Incidental Mutation 'R1544:Kif1a'
| ID |
171972 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif1a
|
| Ensembl Gene |
ENSMUSG00000014602 |
| Gene Name |
kinesin family member 1A |
| Synonyms |
N-3 kinesin, C630002N23Rik, Kns1, LOC381283, ATSV |
| MMRRC Submission |
039583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R1544 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92943186-93029673 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 93002670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086819]
[ENSMUST00000112958]
[ENSMUST00000171556]
[ENSMUST00000171796]
[ENSMUST00000186861]
[ENSMUST00000190723]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086819
|
| SMART Domains |
Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
1.05e-177 |
SMART |
|
low complexity region
|
411 |
429 |
N/A |
INTRINSIC |
|
FHA
|
524 |
581 |
1.39e-8 |
SMART |
|
coiled coil region
|
634 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
778 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
814 |
861 |
6.4e-13 |
PFAM |
|
Pfam:DUF3694
|
1157 |
1305 |
1.8e-47 |
PFAM |
|
low complexity region
|
1420 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1541 |
1549 |
N/A |
INTRINSIC |
|
PH
|
1584 |
1683 |
1.52e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112958
|
| SMART Domains |
Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
1.05e-177 |
SMART |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
FHA
|
515 |
572 |
1.39e-8 |
SMART |
|
coiled coil region
|
625 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
769 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
805 |
851 |
3.9e-15 |
PFAM |
|
Pfam:DUF3694
|
1148 |
1304 |
5e-40 |
PFAM |
|
low complexity region
|
1420 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1541 |
1549 |
N/A |
INTRINSIC |
|
PH
|
1584 |
1683 |
1.52e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171556
|
| SMART Domains |
Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
1.05e-177 |
SMART |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
FHA
|
515 |
572 |
1.39e-8 |
SMART |
|
coiled coil region
|
625 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
769 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
805 |
852 |
2.7e-13 |
PFAM |
|
Pfam:DUF3694
|
1148 |
1296 |
8.4e-48 |
PFAM |
|
low complexity region
|
1411 |
1435 |
N/A |
INTRINSIC |
|
low complexity region
|
1532 |
1540 |
N/A |
INTRINSIC |
|
PH
|
1575 |
1674 |
1.52e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171796
|
| SMART Domains |
Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
1.05e-177 |
SMART |
|
low complexity region
|
402 |
420 |
N/A |
INTRINSIC |
|
FHA
|
515 |
572 |
1.39e-8 |
SMART |
|
coiled coil region
|
625 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
769 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
805 |
852 |
6.4e-13 |
PFAM |
|
Pfam:DUF3694
|
1148 |
1304 |
1.8e-46 |
PFAM |
|
low complexity region
|
1419 |
1443 |
N/A |
INTRINSIC |
|
low complexity region
|
1540 |
1548 |
N/A |
INTRINSIC |
|
PH
|
1583 |
1682 |
1.52e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186861
|
| SMART Domains |
Protein: ENSMUSP00000141194
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
109 |
9.7e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190723
|
| SMART Domains |
Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
5.2e-180 |
SMART |
|
low complexity region
|
411 |
429 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
471 |
N/A |
INTRINSIC |
|
FHA
|
524 |
581 |
6.9e-11 |
SMART |
|
coiled coil region
|
634 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
778 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
814 |
861 |
4e-10 |
PFAM |
|
low complexity region
|
885 |
900 |
N/A |
INTRINSIC |
|
coiled coil region
|
901 |
929 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
938 |
957 |
5.9e-5 |
PROSPERO |
|
Pfam:DUF3694
|
1250 |
1398 |
1.1e-44 |
PFAM |
|
low complexity region
|
1513 |
1537 |
N/A |
INTRINSIC |
|
low complexity region
|
1634 |
1642 |
N/A |
INTRINSIC |
|
PH
|
1677 |
1776 |
6.9e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.9%
|
| Validation Efficiency |
99% (114/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
PHENOTYPE: Most mice homozygous for a null allele die within a day of birth, with reduced motor and sensory deficits, decreased synaptic vesicle precursor transport, and significant neuronal degeneration in the central nervous system, but two point mutant alleles cause progressive hindleg paralysis [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(1) Gene trapped(1)
|
| Other mutations in this stock |
Total: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,543 (GRCm39) |
I182T |
possibly damaging |
Het |
| 4933406P04Rik |
A |
G |
10: 20,187,105 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
A |
G |
12: 112,381,924 (GRCm39) |
|
noncoding transcript |
Het |
| Aacs |
A |
T |
5: 125,593,394 (GRCm39) |
I666F |
possibly damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,694 (GRCm39) |
V227I |
probably benign |
Het |
| Abcd3 |
T |
C |
3: 121,578,122 (GRCm39) |
Q168R |
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,080,311 (GRCm39) |
Q288R |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,966,760 (GRCm39) |
A611V |
probably damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,187 (GRCm39) |
V118A |
possibly damaging |
Het |
| Bend7 |
T |
A |
2: 4,768,122 (GRCm39) |
|
probably benign |
Het |
| Brd4 |
A |
G |
17: 32,417,646 (GRCm39) |
|
probably benign |
Het |
| C4b |
C |
A |
17: 34,957,941 (GRCm39) |
R580L |
probably benign |
Het |
| Cct8 |
G |
T |
16: 87,288,342 (GRCm39) |
|
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,664,608 (GRCm39) |
C484S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,183,127 (GRCm39) |
Y344H |
probably benign |
Het |
| Clic6 |
A |
T |
16: 92,288,961 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,360,703 (GRCm39) |
S247P |
probably damaging |
Het |
| Csf2rb |
G |
T |
15: 78,224,955 (GRCm39) |
A212S |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,475,294 (GRCm39) |
|
probably null |
Het |
| Cyp26c1 |
A |
G |
19: 37,679,393 (GRCm39) |
D366G |
probably benign |
Het |
| Dhx33 |
A |
G |
11: 70,890,354 (GRCm39) |
S222P |
probably damaging |
Het |
| Dhx40 |
T |
A |
11: 86,697,379 (GRCm39) |
I63F |
possibly damaging |
Het |
| Dipk2b |
A |
C |
X: 18,286,701 (GRCm39) |
L285V |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,879,861 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,105,957 (GRCm39) |
D20E |
unknown |
Het |
| Dnase2b |
C |
A |
3: 146,290,312 (GRCm39) |
A220S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,570,352 (GRCm39) |
E362G |
probably benign |
Het |
| Ect2l |
C |
T |
10: 18,044,182 (GRCm39) |
V226I |
probably benign |
Het |
| Epha10 |
C |
A |
4: 124,779,389 (GRCm39) |
N78K |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,593,416 (GRCm39) |
V224A |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,523 (GRCm39) |
D40E |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,887,553 (GRCm39) |
M548V |
probably benign |
Het |
| Flii |
C |
T |
11: 60,610,518 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
T |
6: 29,444,079 (GRCm39) |
Y631F |
probably benign |
Het |
| Gm6871 |
A |
C |
7: 41,195,514 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,387,772 (GRCm39) |
S1028T |
possibly damaging |
Het |
| Hycc1 |
A |
T |
5: 24,170,139 (GRCm39) |
D403E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,301,486 (GRCm39) |
H3739R |
probably benign |
Het |
| Iqcg |
A |
T |
16: 32,865,895 (GRCm39) |
N149K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
| Itih2 |
T |
G |
2: 10,110,025 (GRCm39) |
D576A |
probably benign |
Het |
| Kcmf1 |
T |
C |
6: 72,825,212 (GRCm39) |
T243A |
probably benign |
Het |
| Klf10 |
C |
T |
15: 38,297,030 (GRCm39) |
G337S |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,938,699 (GRCm39) |
N298S |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,882,823 (GRCm39) |
E556G |
probably benign |
Het |
| Mael |
A |
T |
1: 166,029,859 (GRCm39) |
S354T |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,816 (GRCm39) |
D496G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,661 (GRCm39) |
T1806A |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,260 (GRCm39) |
|
probably null |
Het |
| Moap1 |
A |
T |
12: 102,709,504 (GRCm39) |
M15K |
possibly damaging |
Het |
| Mpv17l |
G |
T |
16: 13,764,683 (GRCm39) |
W70L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,127,962 (GRCm39) |
I577V |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,620 (GRCm39) |
L227Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,059 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,452,983 (GRCm39) |
R26L |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,966,248 (GRCm39) |
T405A |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,802,063 (GRCm39) |
I502N |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,246,129 (GRCm39) |
H230L |
probably benign |
Het |
| Nufip2 |
G |
A |
11: 77,582,733 (GRCm39) |
E216K |
possibly damaging |
Het |
| Oaf |
A |
G |
9: 43,133,930 (GRCm39) |
Y264H |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,431 (GRCm39) |
V126A |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,615 (GRCm39) |
L157P |
probably damaging |
Het |
| Or6c217 |
A |
T |
10: 129,738,293 (GRCm39) |
C95* |
probably null |
Het |
| Pax1 |
T |
C |
2: 147,210,321 (GRCm39) |
V352A |
probably damaging |
Het |
| Pkd1l2 |
TGGG |
TGG |
8: 117,764,974 (GRCm39) |
|
probably null |
Het |
| Plxna3 |
G |
A |
X: 73,383,772 (GRCm39) |
|
probably null |
Het |
| Pnpla3 |
T |
C |
15: 84,065,247 (GRCm39) |
V347A |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,920,461 (GRCm39) |
K350* |
probably null |
Het |
| Pramel28 |
T |
C |
4: 143,692,632 (GRCm39) |
D123G |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,186,424 (GRCm39) |
|
probably null |
Het |
| Prb1a |
C |
A |
6: 132,186,423 (GRCm39) |
|
probably null |
Het |
| Ptpn11 |
G |
A |
5: 121,275,574 (GRCm39) |
H540Y |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,000,747 (GRCm39) |
H946N |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad51b |
A |
G |
12: 79,349,317 (GRCm39) |
E51G |
possibly damaging |
Het |
| Rin2 |
T |
C |
2: 145,700,366 (GRCm39) |
V181A |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,245,188 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
A |
G |
4: 152,398,328 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,299,183 (GRCm39) |
K852M |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,043 (GRCm39) |
I102K |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,195,429 (GRCm39) |
I33T |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,315,699 (GRCm39) |
V1670I |
probably damaging |
Het |
| Serhl |
C |
T |
15: 82,989,877 (GRCm39) |
T42M |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,011,281 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,012,374 (GRCm39) |
S166G |
probably benign |
Het |
| Slc15a4 |
G |
A |
5: 127,680,832 (GRCm39) |
H396Y |
probably benign |
Het |
| Slc2a7 |
A |
T |
4: 150,239,143 (GRCm39) |
N123Y |
probably damaging |
Het |
| Smpd3 |
G |
A |
8: 106,992,199 (GRCm39) |
T118M |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,193 (GRCm39) |
I427N |
probably benign |
Het |
| Ssmem1 |
T |
A |
6: 30,519,650 (GRCm39) |
S112T |
probably damaging |
Het |
| Stard10 |
A |
T |
7: 100,993,233 (GRCm39) |
D190V |
probably damaging |
Het |
| Stil |
A |
T |
4: 114,881,049 (GRCm39) |
K531M |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,203,219 (GRCm39) |
|
probably null |
Het |
| Svil |
T |
A |
18: 5,046,817 (GRCm39) |
I21N |
possibly damaging |
Het |
| Syt11 |
T |
C |
3: 88,656,110 (GRCm39) |
M14V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,640,413 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,577,081 (GRCm39) |
Q1468L |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,486,658 (GRCm39) |
S77R |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,554,383 (GRCm39) |
|
probably benign |
Het |
| Tyr |
C |
A |
7: 87,141,914 (GRCm39) |
L138F |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,901 (GRCm39) |
V469A |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,709,098 (GRCm39) |
Y4C |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,968 (GRCm39) |
T61S |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,465 (GRCm39) |
H32R |
probably benign |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,068,284 (GRCm39) |
D1348G |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,324,187 (GRCm39) |
C261S |
probably benign |
Het |
| Zfp809 |
T |
A |
9: 22,146,395 (GRCm39) |
L28Q |
probably damaging |
Het |
| Znrf3 |
T |
A |
11: 5,239,066 (GRCm39) |
Q99L |
probably damaging |
Het |
|
| Other mutations in Kif1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Kif1a
|
APN |
1 |
92,982,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01574:Kif1a
|
APN |
1 |
93,010,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Kif1a
|
APN |
1 |
92,967,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01895:Kif1a
|
APN |
1 |
92,953,455 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02215:Kif1a
|
APN |
1 |
92,948,271 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02571:Kif1a
|
APN |
1 |
92,948,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02734:Kif1a
|
APN |
1 |
92,990,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:Kif1a
|
APN |
1 |
92,967,569 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02990:Kif1a
|
APN |
1 |
92,966,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03298:Kif1a
|
APN |
1 |
92,993,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Kif1a
|
APN |
1 |
92,986,579 (GRCm39) |
nonsense |
probably null |
|
|
IGL03354:Kif1a
|
APN |
1 |
92,987,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
asbestos
|
UTSW |
1 |
92,950,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
chrysolite
|
UTSW |
1 |
93,002,670 (GRCm39) |
splice site |
probably benign |
|
|
osmium
|
UTSW |
1 |
92,986,532 (GRCm39) |
splice site |
probably benign |
|
|
R4538_Kif1a_397
|
UTSW |
1 |
93,004,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Kif1a
|
UTSW |
1 |
93,004,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03046:Kif1a
|
UTSW |
1 |
93,010,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4508001:Kif1a
|
UTSW |
1 |
92,974,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Kif1a
|
UTSW |
1 |
92,970,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Kif1a
|
UTSW |
1 |
92,974,500 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Kif1a
|
UTSW |
1 |
92,969,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Kif1a
|
UTSW |
1 |
92,982,164 (GRCm39) |
splice site |
probably benign |
|
|
R0335:Kif1a
|
UTSW |
1 |
92,980,288 (GRCm39) |
splice site |
probably benign |
|
|
R0380:Kif1a
|
UTSW |
1 |
92,983,753 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0472:Kif1a
|
UTSW |
1 |
92,946,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0501:Kif1a
|
UTSW |
1 |
92,983,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Kif1a
|
UTSW |
1 |
92,971,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0628:Kif1a
|
UTSW |
1 |
92,947,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0848:Kif1a
|
UTSW |
1 |
92,947,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Kif1a
|
UTSW |
1 |
92,951,175 (GRCm39) |
splice site |
probably benign |
|
|
R1132:Kif1a
|
UTSW |
1 |
92,983,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1387:Kif1a
|
UTSW |
1 |
92,983,672 (GRCm39) |
splice site |
probably benign |
|
|
R1466:Kif1a
|
UTSW |
1 |
92,982,651 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1466:Kif1a
|
UTSW |
1 |
92,982,651 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1569:Kif1a
|
UTSW |
1 |
92,986,532 (GRCm39) |
splice site |
probably benign |
|
|
R1802:Kif1a
|
UTSW |
1 |
92,993,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Kif1a
|
UTSW |
1 |
92,946,753 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1919:Kif1a
|
UTSW |
1 |
92,946,753 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1999:Kif1a
|
UTSW |
1 |
92,988,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2000:Kif1a
|
UTSW |
1 |
92,982,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2276:Kif1a
|
UTSW |
1 |
92,996,199 (GRCm39) |
splice site |
probably benign |
|
|
R2307:Kif1a
|
UTSW |
1 |
93,006,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Kif1a
|
UTSW |
1 |
92,974,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Kif1a
|
UTSW |
1 |
92,964,575 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3441:Kif1a
|
UTSW |
1 |
92,964,575 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3618:Kif1a
|
UTSW |
1 |
93,004,765 (GRCm39) |
missense |
probably null |
1.00 |
|
R3957:Kif1a
|
UTSW |
1 |
92,953,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4010:Kif1a
|
UTSW |
1 |
92,950,131 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4013:Kif1a
|
UTSW |
1 |
93,004,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4017:Kif1a
|
UTSW |
1 |
93,004,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4115:Kif1a
|
UTSW |
1 |
92,980,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4386:Kif1a
|
UTSW |
1 |
92,996,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4538:Kif1a
|
UTSW |
1 |
93,004,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Kif1a
|
UTSW |
1 |
92,952,368 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4625:Kif1a
|
UTSW |
1 |
92,970,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Kif1a
|
UTSW |
1 |
93,006,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4794:Kif1a
|
UTSW |
1 |
92,953,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Kif1a
|
UTSW |
1 |
92,948,931 (GRCm39) |
splice site |
probably null |
|
|
R4903:Kif1a
|
UTSW |
1 |
92,949,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Kif1a
|
UTSW |
1 |
93,002,700 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4918:Kif1a
|
UTSW |
1 |
93,002,700 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4991:Kif1a
|
UTSW |
1 |
93,006,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5028:Kif1a
|
UTSW |
1 |
92,982,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5051:Kif1a
|
UTSW |
1 |
93,003,876 (GRCm39) |
splice site |
probably null |
|
|
R5073:Kif1a
|
UTSW |
1 |
92,950,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Kif1a
|
UTSW |
1 |
92,974,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Kif1a
|
UTSW |
1 |
92,946,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5481:Kif1a
|
UTSW |
1 |
92,987,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5510:Kif1a
|
UTSW |
1 |
92,969,414 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5610:Kif1a
|
UTSW |
1 |
92,953,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Kif1a
|
UTSW |
1 |
92,983,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5808:Kif1a
|
UTSW |
1 |
92,970,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6027:Kif1a
|
UTSW |
1 |
92,953,365 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6056:Kif1a
|
UTSW |
1 |
92,952,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Kif1a
|
UTSW |
1 |
92,982,618 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6120:Kif1a
|
UTSW |
1 |
92,952,296 (GRCm39) |
splice site |
probably null |
|
|
R6126:Kif1a
|
UTSW |
1 |
92,947,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Kif1a
|
UTSW |
1 |
92,964,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Kif1a
|
UTSW |
1 |
92,947,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Kif1a
|
UTSW |
1 |
92,982,663 (GRCm39) |
nonsense |
probably null |
|
|
R6326:Kif1a
|
UTSW |
1 |
93,004,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Kif1a
|
UTSW |
1 |
92,949,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Kif1a
|
UTSW |
1 |
93,005,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Kif1a
|
UTSW |
1 |
92,993,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Kif1a
|
UTSW |
1 |
92,967,524 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7022:Kif1a
|
UTSW |
1 |
92,993,820 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7059:Kif1a
|
UTSW |
1 |
92,974,551 (GRCm39) |
intron |
probably benign |
|
|
R7103:Kif1a
|
UTSW |
1 |
93,005,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Kif1a
|
UTSW |
1 |
92,969,305 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7259:Kif1a
|
UTSW |
1 |
93,001,532 (GRCm39) |
nonsense |
probably null |
|
|
R7424:Kif1a
|
UTSW |
1 |
92,982,039 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7659:Kif1a
|
UTSW |
1 |
92,974,542 (GRCm39) |
intron |
probably benign |
|
|
R7681:Kif1a
|
UTSW |
1 |
92,982,666 (GRCm39) |
missense |
probably benign |
|
|
R7976:Kif1a
|
UTSW |
1 |
92,967,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Kif1a
|
UTSW |
1 |
92,982,423 (GRCm39) |
intron |
probably benign |
|
|
R8420:Kif1a
|
UTSW |
1 |
92,950,141 (GRCm39) |
missense |
probably benign |
|
|
R8994:Kif1a
|
UTSW |
1 |
92,983,457 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9016:Kif1a
|
UTSW |
1 |
92,953,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Kif1a
|
UTSW |
1 |
92,979,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9246:Kif1a
|
UTSW |
1 |
93,005,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9252:Kif1a
|
UTSW |
1 |
93,002,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Kif1a
|
UTSW |
1 |
93,000,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9413:Kif1a
|
UTSW |
1 |
92,949,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Kif1a
|
UTSW |
1 |
92,953,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Kif1a
|
UTSW |
1 |
92,983,445 (GRCm39) |
missense |
probably benign |
|
|
R9625:Kif1a
|
UTSW |
1 |
93,000,766 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9694:Kif1a
|
UTSW |
1 |
92,950,173 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Kif1a
|
UTSW |
1 |
92,950,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kif1a
|
UTSW |
1 |
92,949,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Kif1a
|
UTSW |
1 |
92,983,419 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGCTGAAGAAGACACTACCCAC -3'
(R):5'- GAGGCATCTGAGACACCATTTCCC -3'
Sequencing Primer
(F):5'- ACCACATGTCCTGTTCCCAG -3'
(R):5'- TGGTAATGCTCAGACCTGAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation