Incidental Mutation 'R5073:Kif1a'
| ID |
388936 |
| 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 |
042662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R5073 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92943186-93029673 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92950227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1400
(H1400R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086819]
[ENSMUST00000112958]
[ENSMUST00000171556]
[ENSMUST00000171796]
[ENSMUST00000190723]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086819
AA Change: H1401R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000084029
Gene: ENSMUSG00000014602
AA Change: H1401R
| 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 damaging
Transcript: ENSMUST00000112958
AA Change: H1401R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108582
Gene: ENSMUSG00000014602
AA Change: H1401R
| 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 damaging
Transcript: ENSMUST00000171556
AA Change: H1392R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130717
Gene: ENSMUSG00000014602
AA Change: H1392R
| 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 damaging
Transcript: ENSMUST00000171796
AA Change: H1400R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128432
Gene: ENSMUSG00000014602
AA Change: H1400R
| 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: ENSMUST00000188136
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190723
AA Change: H1494R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140163
Gene: ENSMUSG00000014602
AA Change: H1494R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190854
|
| Meta Mutation Damage Score |
0.4395 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
100% (113/113) |
| 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: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,595 (GRCm39) |
H626Q |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,986,549 (GRCm39) |
M245K |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,055,219 (GRCm39) |
|
probably null |
Het |
| Apool |
C |
T |
X: 111,259,540 (GRCm39) |
Q60* |
probably null |
Het |
| Aqp1 |
A |
T |
6: 55,322,520 (GRCm39) |
I172F |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 105,153,374 (GRCm39) |
D1092G |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,261,958 (GRCm39) |
Y110C |
probably damaging |
Het |
| Brpf1 |
T |
C |
6: 113,287,215 (GRCm39) |
S148P |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,301 (GRCm39) |
H339R |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,954,722 (GRCm39) |
|
probably null |
Het |
| Ccl2 |
A |
G |
11: 81,927,984 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cit |
T |
A |
5: 116,084,902 (GRCm39) |
M811K |
probably benign |
Het |
| Crim1 |
T |
C |
17: 78,588,776 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
| Cyp4a29 |
A |
G |
4: 115,104,860 (GRCm39) |
T123A |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,332,224 (GRCm39) |
|
probably benign |
Het |
| Dnaja3 |
A |
T |
16: 4,514,289 (GRCm39) |
T274S |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,620,480 (GRCm39) |
D514G |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,114,254 (GRCm39) |
K1226M |
probably damaging |
Het |
| Eef1akmt1 |
A |
G |
14: 57,803,464 (GRCm39) |
L30P |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,351,741 (GRCm39) |
M125T |
possibly damaging |
Het |
| Eml4 |
C |
A |
17: 83,771,006 (GRCm39) |
S723R |
probably damaging |
Het |
| Fgf15 |
A |
C |
7: 144,450,576 (GRCm39) |
Y54S |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gprasp2 |
C |
T |
X: 134,743,346 (GRCm39) |
T235I |
possibly damaging |
Het |
| H2ab3 |
T |
C |
X: 119,222,543 (GRCm39) |
T84A |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,349,904 (GRCm39) |
I555F |
probably damaging |
Het |
| Hdac6 |
A |
G |
X: 7,811,036 (GRCm39) |
F104L |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,597,079 (GRCm39) |
V122M |
possibly damaging |
Het |
| Hmga1b |
C |
T |
11: 120,654,012 (GRCm39) |
Q100* |
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,105 (GRCm39) |
N2763D |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,457 (GRCm39) |
T298A |
probably benign |
Het |
| Impdh2 |
G |
A |
9: 108,440,535 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,209,475 (GRCm39) |
F1203L |
probably damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,714 (GRCm39) |
S117P |
probably damaging |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Kiss1r |
C |
A |
10: 79,754,596 (GRCm39) |
S30* |
probably null |
Het |
| Krt222 |
T |
A |
11: 99,134,796 (GRCm39) |
|
probably benign |
Het |
| Lekr1 |
A |
T |
3: 65,727,215 (GRCm39) |
|
noncoding transcript |
Het |
| Ltn1 |
A |
G |
16: 87,224,628 (GRCm39) |
V32A |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,839,020 (GRCm39) |
W21R |
probably benign |
Het |
| Marchf5 |
A |
G |
19: 37,188,207 (GRCm39) |
N58S |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,875,391 (GRCm39) |
Q1158* |
probably null |
Het |
| Mib2 |
C |
G |
4: 155,741,233 (GRCm39) |
A535P |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
| Msc |
C |
T |
1: 14,824,537 (GRCm39) |
V178M |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,999 (GRCm39) |
T1982S |
unknown |
Het |
| Mvk |
A |
T |
5: 114,591,013 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
T |
C |
10: 127,543,288 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
G |
9: 80,195,290 (GRCm39) |
S887A |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,722,425 (GRCm39) |
Q1167* |
probably null |
Het |
| Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
| Nmnat1 |
C |
A |
4: 149,553,595 (GRCm39) |
M172I |
probably benign |
Het |
| Nudt1 |
G |
T |
5: 140,317,662 (GRCm39) |
|
probably null |
Het |
| Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,118 (GRCm39) |
E271G |
possibly damaging |
Het |
| Or4e1 |
T |
A |
14: 52,701,032 (GRCm39) |
M118L |
probably damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,655,077 (GRCm39) |
I1798K |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,025 (GRCm39) |
D344G |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,770 (GRCm39) |
T343A |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
| Pilra |
A |
G |
5: 137,833,674 (GRCm39) |
F131L |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,906,742 (GRCm39) |
S1184R |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,058,390 (GRCm39) |
V140I |
probably damaging |
Het |
| Prpf38b |
A |
G |
3: 108,818,484 (GRCm39) |
F92S |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,884,915 (GRCm39) |
|
probably benign |
Het |
| Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
| Rgs9 |
C |
A |
11: 109,118,157 (GRCm39) |
A332S |
probably benign |
Het |
| Rptor |
T |
C |
11: 119,787,305 (GRCm39) |
I1290T |
possibly damaging |
Het |
| Slc38a7 |
C |
A |
8: 96,568,278 (GRCm39) |
R369L |
probably damaging |
Het |
| Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
| Slco2a1 |
G |
T |
9: 102,923,925 (GRCm39) |
L46F |
probably damaging |
Het |
| Snrpd3 |
G |
T |
10: 75,355,227 (GRCm39) |
C20F |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,699,422 (GRCm39) |
I481N |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,176 (GRCm39) |
E143G |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,607,101 (GRCm39) |
M213L |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,938,648 (GRCm39) |
C64R |
probably damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,233,916 (GRCm39) |
L79S |
probably damaging |
Het |
| Tpp2 |
C |
A |
1: 43,993,896 (GRCm39) |
S260R |
possibly damaging |
Het |
| Tppp2 |
G |
A |
14: 52,157,912 (GRCm39) |
R119Q |
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,804,493 (GRCm39) |
|
probably benign |
Het |
| Tuba8 |
T |
C |
6: 121,199,862 (GRCm39) |
V182A |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,254,780 (GRCm39) |
Y559H |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,595 (GRCm39) |
S996T |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,918,037 (GRCm39) |
V308A |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,143,271 (GRCm39) |
|
probably null |
Het |
| Wdr6 |
G |
A |
9: 108,451,565 (GRCm39) |
H773Y |
probably damaging |
Het |
| Wnk4 |
T |
G |
11: 101,152,014 (GRCm39) |
F173V |
probably damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,378,188 (GRCm39) |
Y395H |
probably damaging |
Het |
| Zcwpw1 |
T |
A |
5: 137,793,781 (GRCm39) |
M1K |
probably null |
Het |
| Zfp263 |
A |
G |
16: 3,564,704 (GRCm39) |
R240G |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,890 (GRCm39) |
I272V |
possibly 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 |
|
R1544:Kif1a
|
UTSW |
1 |
93,002,670 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- GACAAAGCCGTGGTCACATC -3'
(R):5'- ATAGGCAGGACGTCTGAGTC -3'
Sequencing Primer
(F):5'- TACCTTGACAGCCAGCTCC -3'
(R):5'- TCTGAGTCCTGCCAGCAGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation