Incidental Mutation 'R2127:Kif1b'
| ID |
227600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif1b
|
| Ensembl Gene |
ENSMUSG00000063077 |
| Gene Name |
kinesin family member 1B |
| Synonyms |
N-3 kinesin, KIF1Bp130, KIF1Bp204, Kif1b beta, Kif1b alpha, D4Mil1e, A530096N05Rik |
| MMRRC Submission |
040130-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149260776-149392150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 149272097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1568
(S1568L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055647]
[ENSMUST00000060537]
|
| AlphaFold |
Q60575 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055647
AA Change: S1522L
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: S1522L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
5.85e-176 |
SMART |
|
low complexity region
|
389 |
404 |
N/A |
INTRINSIC |
|
FHA
|
509 |
566 |
1.61e-4 |
SMART |
|
coiled coil region
|
626 |
685 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
799 |
846 |
9.7e-13 |
PFAM |
|
internal_repeat_1
|
901 |
933 |
7.01e-7 |
PROSPERO |
|
low complexity region
|
1165 |
1179 |
N/A |
INTRINSIC |
|
Pfam:DUF3694
|
1220 |
1368 |
1.1e-46 |
PFAM |
|
low complexity region
|
1444 |
1461 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1591 |
N/A |
INTRINSIC |
|
PH
|
1656 |
1755 |
1.02e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060537
AA Change: S1568L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: S1568L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
362 |
7.61e-175 |
SMART |
|
low complexity region
|
390 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
450 |
N/A |
INTRINSIC |
|
FHA
|
555 |
612 |
1.61e-4 |
SMART |
|
coiled coil region
|
672 |
731 |
N/A |
INTRINSIC |
|
Pfam:KIF1B
|
845 |
892 |
7.1e-15 |
PFAM |
|
internal_repeat_1
|
947 |
979 |
4.76e-7 |
PROSPERO |
|
low complexity region
|
1211 |
1225 |
N/A |
INTRINSIC |
|
Pfam:DUF3694
|
1266 |
1413 |
1.1e-40 |
PFAM |
|
low complexity region
|
1490 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1525 |
1553 |
N/A |
INTRINSIC |
|
low complexity region
|
1619 |
1637 |
N/A |
INTRINSIC |
|
PH
|
1702 |
1801 |
1.02e-14 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139123
AA Change: S246L
|
| SMART Domains |
Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: S246L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3694
|
1 |
92 |
4.4e-23 |
PFAM |
|
low complexity region
|
169 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
316 |
N/A |
INTRINSIC |
|
PH
|
381 |
480 |
1.02e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150853
|
| Meta Mutation Damage Score |
0.2112 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (93/95) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,752 (GRCm39) |
S300T |
possibly damaging |
Het |
| A2ml1 |
A |
C |
6: 128,535,400 (GRCm39) |
V770G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,475 (GRCm39) |
I558T |
probably benign |
Het |
| Abhd17c |
C |
A |
7: 83,759,870 (GRCm39) |
G295W |
probably damaging |
Het |
| Actn3 |
G |
A |
19: 4,921,703 (GRCm39) |
A159V |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Agbl1 |
G |
T |
7: 76,069,628 (GRCm39) |
V373F |
possibly damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,279 (GRCm39) |
E485D |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,377,282 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,206,622 (GRCm39) |
D15G |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,737,611 (GRCm39) |
L921P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,386,038 (GRCm39) |
N88S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,756 (GRCm39) |
C77* |
probably null |
Het |
| Caskin1 |
T |
C |
17: 24,715,970 (GRCm39) |
|
probably null |
Het |
| Catsper4 |
T |
C |
4: 133,941,117 (GRCm39) |
D254G |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,465 (GRCm39) |
D958G |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,377,100 (GRCm39) |
K787Q |
probably benign |
Het |
| Ccdc191 |
C |
T |
16: 43,728,998 (GRCm39) |
T244I |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,179,699 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Cdc37 |
T |
C |
9: 21,061,143 (GRCm39) |
Y4C |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,945,541 (GRCm39) |
N1018K |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,392 (GRCm39) |
D3157G |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,580,477 (GRCm39) |
V492M |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,011 (GRCm39) |
I2486N |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,342,928 (GRCm39) |
T1424I |
possibly damaging |
Het |
| Dsc3 |
C |
T |
18: 20,101,411 (GRCm39) |
A661T |
probably benign |
Het |
| F930015N05Rik |
A |
G |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fbxo34 |
C |
A |
14: 47,767,563 (GRCm39) |
R308S |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
A |
T |
11: 99,663,327 (GRCm39) |
C118S |
unknown |
Het |
| Gm9742 |
A |
T |
13: 8,085,011 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
A |
2: 180,900,842 (GRCm39) |
A185V |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,618 (GRCm39) |
V157A |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,937,932 (GRCm39) |
A247T |
probably damaging |
Het |
| Grin2b |
A |
C |
6: 135,755,698 (GRCm39) |
S539A |
probably benign |
Het |
| Hmbs |
T |
C |
9: 44,252,004 (GRCm39) |
T92A |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,406,000 (GRCm39) |
M173V |
probably benign |
Het |
| Irx4 |
T |
A |
13: 73,413,595 (GRCm39) |
S22T |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,511,881 (GRCm39) |
A623V |
probably benign |
Het |
| Ksr1 |
G |
A |
11: 78,924,139 (GRCm39) |
S361L |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,847 (GRCm39) |
Y506D |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,064,007 (GRCm39) |
S2788P |
possibly damaging |
Het |
| Mfsd2b |
T |
A |
12: 4,917,659 (GRCm39) |
Y129F |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,195,250 (GRCm39) |
S155P |
probably benign |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,688,932 (GRCm39) |
T156A |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,824,280 (GRCm39) |
T799I |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,885,442 (GRCm39) |
V167M |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,610,380 (GRCm39) |
R354L |
possibly damaging |
Het |
| Olfml2a |
T |
C |
2: 38,831,699 (GRCm39) |
C93R |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,685 (GRCm39) |
I174V |
probably benign |
Het |
| Or1e25 |
C |
G |
11: 73,493,631 (GRCm39) |
S75C |
possibly damaging |
Het |
| Or5l14 |
A |
T |
2: 87,793,176 (GRCm39) |
V20D |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,215,494 (GRCm39) |
L1134M |
probably damaging |
Het |
| Plscr4 |
T |
G |
9: 92,370,683 (GRCm39) |
F217V |
possibly damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,354,840 (GRCm39) |
Y667N |
probably benign |
Het |
| Polg |
A |
G |
7: 79,114,676 (GRCm39) |
L95P |
probably damaging |
Het |
| Psg20 |
T |
G |
7: 18,416,643 (GRCm39) |
I158L |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,145 (GRCm39) |
S437G |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,981,032 (GRCm39) |
M305V |
possibly damaging |
Het |
| Rinl |
A |
G |
7: 28,496,168 (GRCm39) |
E383G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,290 (GRCm39) |
M888V |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,776 (GRCm39) |
I22K |
possibly damaging |
Het |
| Rtca |
C |
A |
3: 116,291,323 (GRCm39) |
R219L |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,727,081 (GRCm39) |
P2427S |
probably damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc39a11 |
A |
G |
11: 113,260,629 (GRCm39) |
S176P |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,168 (GRCm39) |
|
noncoding transcript |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Sult2a4 |
G |
T |
7: 13,649,185 (GRCm39) |
P207Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,282 (GRCm39) |
T117A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,760,600 (GRCm39) |
V208A |
probably damaging |
Het |
| Tmbim4 |
T |
A |
10: 120,060,658 (GRCm39) |
I215N |
probably damaging |
Het |
| Tmem202 |
T |
A |
9: 59,427,483 (GRCm39) |
I122F |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,234 (GRCm39) |
S4P |
unknown |
Het |
| Tpcn2 |
A |
G |
7: 144,827,712 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,345,404 (GRCm39) |
F10I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Usp8 |
T |
G |
2: 126,579,495 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,533 (GRCm39) |
Y81F |
probably benign |
Het |
| Vps36 |
G |
T |
8: 22,708,305 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,236,565 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt3 |
A |
G |
11: 103,703,474 (GRCm39) |
H319R |
possibly damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,391 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,475,519 (GRCm39) |
E545G |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,038,472 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,489,917 (GRCm39) |
V1228A |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,061,876 (GRCm39) |
D248G |
probably benign |
Het |
|
| Other mutations in Kif1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01311:Kif1b
|
APN |
4 |
149,305,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Kif1b
|
APN |
4 |
149,299,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02240:Kif1b
|
APN |
4 |
149,330,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02414:Kif1b
|
APN |
4 |
149,283,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02490:Kif1b
|
APN |
4 |
149,288,665 (GRCm39) |
missense |
probably benign |
|
|
IGL02501:Kif1b
|
APN |
4 |
149,299,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Kif1b
|
APN |
4 |
149,330,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Kif1b
|
APN |
4 |
149,375,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Kif1b
|
APN |
4 |
149,265,266 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03287:Kif1b
|
APN |
4 |
149,299,438 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03412:Kif1b
|
APN |
4 |
149,359,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4305001:Kif1b
|
UTSW |
4 |
149,305,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0005:Kif1b
|
UTSW |
4 |
149,266,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Kif1b
|
UTSW |
4 |
149,348,058 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Kif1b
|
UTSW |
4 |
149,348,058 (GRCm39) |
splice site |
probably benign |
|
|
R0129:Kif1b
|
UTSW |
4 |
149,345,658 (GRCm39) |
missense |
probably benign |
|
|
R0180:Kif1b
|
UTSW |
4 |
149,298,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Kif1b
|
UTSW |
4 |
149,283,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Kif1b
|
UTSW |
4 |
149,347,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Kif1b
|
UTSW |
4 |
149,286,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Kif1b
|
UTSW |
4 |
149,288,688 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0403:Kif1b
|
UTSW |
4 |
149,266,424 (GRCm39) |
nonsense |
probably null |
|
|
R0445:Kif1b
|
UTSW |
4 |
149,272,466 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Kif1b
|
UTSW |
4 |
149,307,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Kif1b
|
UTSW |
4 |
149,307,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1681:Kif1b
|
UTSW |
4 |
149,279,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1728:Kif1b
|
UTSW |
4 |
149,272,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Kif1b
|
UTSW |
4 |
149,272,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Kif1b
|
UTSW |
4 |
149,272,089 (GRCm39) |
missense |
probably benign |
|
|
R1915:Kif1b
|
UTSW |
4 |
149,351,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Kif1b
|
UTSW |
4 |
149,272,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2124:Kif1b
|
UTSW |
4 |
149,306,753 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2126:Kif1b
|
UTSW |
4 |
149,272,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2128:Kif1b
|
UTSW |
4 |
149,272,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2129:Kif1b
|
UTSW |
4 |
149,272,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2146:Kif1b
|
UTSW |
4 |
149,268,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2255:Kif1b
|
UTSW |
4 |
149,359,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Kif1b
|
UTSW |
4 |
149,305,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2883:Kif1b
|
UTSW |
4 |
149,322,105 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2981:Kif1b
|
UTSW |
4 |
149,304,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3038:Kif1b
|
UTSW |
4 |
149,297,790 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3616:Kif1b
|
UTSW |
4 |
149,346,740 (GRCm39) |
splice site |
probably benign |
|
|
R3935:Kif1b
|
UTSW |
4 |
149,321,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4347:Kif1b
|
UTSW |
4 |
149,331,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Kif1b
|
UTSW |
4 |
149,298,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4637:Kif1b
|
UTSW |
4 |
149,283,768 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4745:Kif1b
|
UTSW |
4 |
149,322,339 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Kif1b
|
UTSW |
4 |
149,332,378 (GRCm39) |
intron |
probably benign |
|
|
R5618:Kif1b
|
UTSW |
4 |
149,354,346 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5644:Kif1b
|
UTSW |
4 |
149,322,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5683:Kif1b
|
UTSW |
4 |
149,306,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Kif1b
|
UTSW |
4 |
149,358,306 (GRCm39) |
splice site |
probably null |
|
|
R6022:Kif1b
|
UTSW |
4 |
149,282,989 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6048:Kif1b
|
UTSW |
4 |
149,348,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6137:Kif1b
|
UTSW |
4 |
149,322,883 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6139:Kif1b
|
UTSW |
4 |
149,321,989 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6171:Kif1b
|
UTSW |
4 |
149,342,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Kif1b
|
UTSW |
4 |
149,298,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6423:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6424:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6425:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6443:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6460:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6462:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6463:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6469:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6470:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6471:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6472:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6504:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6536:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6537:Kif1b
|
UTSW |
4 |
149,277,053 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6668:Kif1b
|
UTSW |
4 |
149,297,864 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6698:Kif1b
|
UTSW |
4 |
149,359,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7065:Kif1b
|
UTSW |
4 |
149,286,982 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7222:Kif1b
|
UTSW |
4 |
149,309,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Kif1b
|
UTSW |
4 |
149,298,547 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7720:Kif1b
|
UTSW |
4 |
149,266,812 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7744:Kif1b
|
UTSW |
4 |
149,321,532 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7797:Kif1b
|
UTSW |
4 |
149,321,844 (GRCm39) |
missense |
probably benign |
|
|
R7829:Kif1b
|
UTSW |
4 |
149,305,447 (GRCm39) |
splice site |
probably null |
|
|
R7869:Kif1b
|
UTSW |
4 |
149,268,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7878:Kif1b
|
UTSW |
4 |
149,299,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7980:Kif1b
|
UTSW |
4 |
149,354,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Kif1b
|
UTSW |
4 |
149,299,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8237:Kif1b
|
UTSW |
4 |
149,275,642 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8243:Kif1b
|
UTSW |
4 |
149,288,724 (GRCm39) |
missense |
probably benign |
|
|
R8252:Kif1b
|
UTSW |
4 |
149,358,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Kif1b
|
UTSW |
4 |
149,306,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8460:Kif1b
|
UTSW |
4 |
149,272,077 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8462:Kif1b
|
UTSW |
4 |
149,266,797 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8496:Kif1b
|
UTSW |
4 |
149,277,068 (GRCm39) |
nonsense |
probably null |
|
|
R8687:Kif1b
|
UTSW |
4 |
149,345,620 (GRCm39) |
nonsense |
probably null |
|
|
R8694:Kif1b
|
UTSW |
4 |
149,305,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8842:Kif1b
|
UTSW |
4 |
149,338,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8883:Kif1b
|
UTSW |
4 |
149,361,342 (GRCm39) |
missense |
probably benign |
|
|
R8971:Kif1b
|
UTSW |
4 |
149,332,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8994:Kif1b
|
UTSW |
4 |
149,279,939 (GRCm39) |
missense |
|
|
|
R9002:Kif1b
|
UTSW |
4 |
149,275,712 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9227:Kif1b
|
UTSW |
4 |
149,322,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Kif1b
|
UTSW |
4 |
149,275,652 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9450:Kif1b
|
UTSW |
4 |
149,322,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9478:Kif1b
|
UTSW |
4 |
149,345,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9571:Kif1b
|
UTSW |
4 |
149,305,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Kif1b
|
UTSW |
4 |
149,375,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Kif1b
|
UTSW |
4 |
149,336,195 (GRCm39) |
splice site |
probably null |
|
|
X0009:Kif1b
|
UTSW |
4 |
149,331,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Kif1b
|
UTSW |
4 |
149,359,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kif1b
|
UTSW |
4 |
149,350,755 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGAAGGTAAGGACTGACCC -3'
(R):5'- AACGATGTTCCTCTTGTCAGG -3'
Sequencing Primer
(F):5'- AGGTAAGGACTGACCCTTATTATTTC -3'
(R):5'- AAAAACTCGCCACTTCTTGCTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation