Incidental Mutation 'R2126:Kif1b'
| ID |
229865 |
| 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 |
040129-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2126 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 116 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,066 (GRCm39) |
T255A |
possibly damaging |
Het |
| Acat3 |
C |
T |
17: 13,146,294 (GRCm39) |
A230T |
probably benign |
Het |
| Acsl1 |
C |
A |
8: 46,986,663 (GRCm39) |
P650Q |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,660,383 (GRCm39) |
I316N |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| AI429214 |
T |
A |
8: 37,461,362 (GRCm39) |
V170E |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,375,052 (GRCm39) |
G1895S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,439 (GRCm39) |
Q190* |
probably null |
Het |
| Aox3 |
C |
A |
1: 58,197,375 (GRCm39) |
Q574K |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,962,866 (GRCm39) |
Y702H |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,692 (GRCm39) |
I151T |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,176,010 (GRCm39) |
V363A |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,939 (GRCm39) |
N699S |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,386,476 (GRCm39) |
S384P |
probably benign |
Het |
| Atl1 |
G |
T |
12: 69,978,431 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
A |
T |
4: 140,722,702 (GRCm39) |
D203V |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,160,784 (GRCm39) |
N164K |
probably benign |
Het |
| Bnipl |
T |
A |
3: 95,152,994 (GRCm39) |
I162F |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,845,120 (GRCm39) |
L655I |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,195,185 (GRCm39) |
I294M |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,030,521 (GRCm39) |
F1180S |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,449,344 (GRCm39) |
Y121H |
probably benign |
Het |
| Cd4 |
A |
C |
6: 124,847,499 (GRCm39) |
S222A |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,960,416 (GRCm39) |
I289T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,399,084 (GRCm39) |
F328L |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,230,838 (GRCm39) |
D273V |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,162,124 (GRCm39) |
T6A |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,918 (GRCm39) |
G49D |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,729,102 (GRCm39) |
Q599* |
probably null |
Het |
| Col6a5 |
T |
A |
9: 105,822,799 (GRCm39) |
H186L |
unknown |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,445,613 (GRCm39) |
R725* |
probably null |
Het |
| Dnajc10 |
G |
A |
2: 80,181,078 (GRCm39) |
|
probably null |
Het |
| Edem3 |
A |
T |
1: 151,670,482 (GRCm39) |
H337L |
possibly damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,252,604 (GRCm39) |
H392L |
probably benign |
Het |
| Ercc6l2 |
G |
A |
13: 63,996,585 (GRCm39) |
V365I |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 63,996,636 (GRCm39) |
E978G |
probably damaging |
Het |
| Fcrl6 |
C |
T |
1: 172,426,815 (GRCm39) |
V44M |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,161,108 (GRCm39) |
W50* |
probably null |
Het |
| Gm10032 |
T |
C |
14: 67,030,227 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10985 |
CTCTAT |
CT |
3: 53,752,670 (GRCm39) |
|
probably null |
Het |
| Gprc5b |
G |
T |
7: 118,583,398 (GRCm39) |
P157Q |
probably damaging |
Het |
| Gsdmc3 |
G |
A |
15: 63,730,383 (GRCm39) |
Q394* |
probably null |
Het |
| Gucd1 |
A |
G |
10: 75,347,922 (GRCm39) |
S38P |
probably damaging |
Het |
| Higd1a |
A |
T |
9: 121,679,313 (GRCm39) |
I58N |
probably damaging |
Het |
| Hmx3 |
G |
C |
7: 131,146,278 (GRCm39) |
V329L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
T |
19: 8,801,802 (GRCm39) |
R337* |
probably null |
Het |
| Idua |
T |
A |
5: 108,829,304 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,453,811 (GRCm39) |
V218A |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Klhl30 |
T |
A |
1: 91,286,499 (GRCm39) |
|
probably null |
Het |
| Lasp1 |
T |
A |
11: 97,726,960 (GRCm39) |
D227E |
probably benign |
Het |
| Lhx6 |
A |
G |
2: 35,981,336 (GRCm39) |
I85T |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,187,103 (GRCm39) |
D840G |
probably damaging |
Het |
| Loxl4 |
C |
G |
19: 42,592,402 (GRCm39) |
E385D |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,722 (GRCm39) |
I44F |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,832,483 (GRCm39) |
|
probably null |
Het |
| Lyg1 |
T |
C |
1: 37,989,755 (GRCm39) |
Y44C |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,129,122 (GRCm39) |
I129V |
probably damaging |
Het |
| Med27 |
C |
T |
2: 29,414,442 (GRCm39) |
Q150* |
probably null |
Het |
| Ms4a5 |
A |
T |
19: 11,256,732 (GRCm39) |
I55N |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,364,479 (GRCm39) |
S2597P |
possibly damaging |
Het |
| Mxd1 |
A |
C |
6: 86,628,422 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,468,186 (GRCm39) |
D480G |
probably benign |
Het |
| Neb |
T |
C |
2: 52,200,650 (GRCm39) |
Y343C |
probably damaging |
Het |
| Niban1 |
A |
C |
1: 151,571,886 (GRCm39) |
E277A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,584,884 (GRCm39) |
I494V |
possibly damaging |
Het |
| Nrn1 |
A |
C |
13: 36,914,180 (GRCm39) |
V34G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,841 (GRCm39) |
M59V |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,524 (GRCm39) |
I245T |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,459 (GRCm39) |
W313* |
probably null |
Het |
| Or56a3 |
A |
G |
7: 104,735,822 (GRCm39) |
T300A |
probably damaging |
Het |
| Or8b39 |
G |
T |
9: 37,996,572 (GRCm39) |
V147L |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,442 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,796 (GRCm39) |
N95K |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,771 (GRCm39) |
V526E |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,400 (GRCm39) |
F343L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,831,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Plag1 |
A |
T |
4: 3,904,169 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Plch2 |
T |
C |
4: 155,083,456 (GRCm39) |
E393G |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,154,355 (GRCm38) |
M692K |
probably benign |
Het |
| Rassf8 |
G |
A |
6: 145,760,908 (GRCm39) |
R78H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,341,027 (GRCm39) |
Q3556R |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,099 (GRCm39) |
|
probably null |
Het |
| Rpe |
T |
G |
1: 66,755,139 (GRCm39) |
F174V |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,159,502 (GRCm39) |
D36G |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,423 (GRCm39) |
Y1590* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,018 (GRCm39) |
V151A |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,159,330 (GRCm39) |
M17L |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,579,506 (GRCm39) |
Y1228H |
probably damaging |
Het |
| Smad4 |
G |
A |
18: 73,795,815 (GRCm39) |
T193M |
probably benign |
Het |
| Smtn |
T |
A |
11: 3,480,045 (GRCm39) |
H392L |
probably benign |
Het |
| St8sia3 |
A |
G |
18: 64,402,745 (GRCm39) |
D128G |
probably damaging |
Het |
| Sucla2 |
A |
T |
14: 73,830,108 (GRCm39) |
M382L |
possibly damaging |
Het |
| Tbx5 |
A |
G |
5: 119,974,988 (GRCm39) |
T4A |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,104,143 (GRCm39) |
R528G |
probably damaging |
Het |
| Tex44 |
T |
C |
1: 86,354,811 (GRCm39) |
L240P |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,970,904 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,039,758 (GRCm39) |
V731E |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ttf2 |
C |
A |
3: 100,855,509 (GRCm39) |
Q895H |
possibly damaging |
Het |
| Ttll6 |
A |
G |
11: 96,038,358 (GRCm39) |
E402G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,720,436 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,669,195 (GRCm39) |
D303G |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,940,302 (GRCm39) |
A373D |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,058 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,293,033 (GRCm39) |
D358E |
possibly damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,264 (GRCm39) |
S201P |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,403 (GRCm39) |
F78S |
probably damaging |
Het |
| Zfp454 |
A |
C |
11: 50,764,822 (GRCm39) |
S203R |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,976,229 (GRCm39) |
Q833K |
probably benign |
Het |
| Znhit2 |
A |
G |
19: 6,112,091 (GRCm39) |
T279A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,661,913 (GRCm39) |
I131N |
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 |
|
R2127: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'- TATAGGATACAGCCCTGTGAAGG -3'
(R):5'- AAACTCGCCACTTCTTGCTG -3'
Sequencing Primer
(F):5'- CCTGTGAAGGTAAGGACTGACCC -3'
(R):5'- CTTGCTGCTTCGGGAGAGAC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation