Incidental Mutation 'R2146:Kif1b'
| ID |
233816 |
| 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 |
040149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149260776-149392150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149268766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1649
(K1649R)
|
| 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: K1603R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: K1603R
| 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 |
probably damaging
Transcript: ENSMUST00000060537
AA Change: K1649R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: K1649R
| 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: K327R
|
| SMART Domains |
Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: K327R
| 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 |
0.0638 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (84/85) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
T |
6: 124,324,803 (GRCm39) |
|
probably null |
Het |
| 9530002B09Rik |
T |
A |
4: 122,583,198 (GRCm39) |
C13* |
probably null |
Het |
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Adamts18 |
G |
C |
8: 114,571,635 (GRCm39) |
A116G |
possibly damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
| Arhgef5 |
T |
C |
6: 43,260,252 (GRCm39) |
S1413P |
probably damaging |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,575,085 (GRCm39) |
H535N |
possibly damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,051 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
| Ceacam2 |
G |
T |
7: 25,227,368 (GRCm39) |
C166* |
probably null |
Het |
| Ces5a |
T |
A |
8: 94,261,327 (GRCm39) |
E33D |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Chsy3 |
G |
A |
18: 59,309,544 (GRCm39) |
V266I |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,626,821 (GRCm39) |
R251L |
probably damaging |
Het |
| Cps1 |
A |
C |
1: 67,191,538 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
T |
C |
2: 172,217,683 (GRCm39) |
Y99H |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,395,345 (GRCm39) |
T146M |
probably damaging |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dnajc22 |
T |
C |
15: 99,002,264 (GRCm39) |
V303A |
probably benign |
Het |
| Dtx2 |
T |
G |
5: 136,059,464 (GRCm39) |
L458R |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,901,808 (GRCm39) |
F3072L |
probably benign |
Het |
| Fgf5 |
T |
C |
5: 98,423,409 (GRCm39) |
*265R |
probably null |
Het |
| Fndc11 |
A |
G |
2: 180,863,918 (GRCm39) |
E241G |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
| Gm4922 |
T |
G |
10: 18,659,264 (GRCm39) |
Q486P |
probably benign |
Het |
| Gm5786 |
A |
T |
12: 59,128,084 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,463,378 (GRCm39) |
|
probably benign |
Het |
| Ints9 |
G |
A |
14: 65,223,792 (GRCm39) |
G89R |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,615,241 (GRCm39) |
W441R |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,558,808 (GRCm39) |
L382P |
possibly damaging |
Het |
| Itga10 |
G |
T |
3: 96,561,039 (GRCm39) |
G635W |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,075 (GRCm39) |
Y554H |
probably damaging |
Het |
| L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
| Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,434 (GRCm39) |
V144E |
probably benign |
Het |
| Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
| Mdga2 |
C |
T |
12: 66,915,515 (GRCm39) |
E47K |
probably damaging |
Het |
| Metrn |
T |
A |
17: 26,015,601 (GRCm39) |
E38V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
| Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
| Mideas |
G |
T |
12: 84,219,809 (GRCm39) |
P382T |
probably damaging |
Het |
| Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,191,228 (GRCm39) |
R871H |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or13c7b |
A |
G |
4: 43,821,178 (GRCm39) |
F61S |
probably damaging |
Het |
| Or5b111 |
T |
C |
19: 13,291,485 (GRCm39) |
T55A |
probably benign |
Het |
| Or8i2 |
T |
A |
2: 86,852,009 (GRCm39) |
N293I |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
| Pkd2 |
A |
C |
5: 104,603,456 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
T |
A |
10: 17,969,061 (GRCm39) |
D206E |
probably benign |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Rnf13 |
T |
G |
3: 57,709,907 (GRCm39) |
I150S |
probably null |
Het |
| Rxfp4 |
C |
T |
3: 88,560,200 (GRCm39) |
A84T |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
| Sgo2b |
T |
G |
8: 64,381,057 (GRCm39) |
T592P |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,062,349 (GRCm39) |
I228N |
probably damaging |
Het |
| Slc39a1 |
T |
G |
3: 90,156,757 (GRCm39) |
H104Q |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,712,161 (GRCm39) |
V230A |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,269,722 (GRCm39) |
E30G |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,413,827 (GRCm39) |
Y985C |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,121,758 (GRCm39) |
F298S |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,857 (GRCm39) |
F460L |
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tnpo3 |
A |
G |
6: 29,589,035 (GRCm39) |
V105A |
probably benign |
Het |
| Ttc7 |
T |
C |
17: 87,654,135 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,532 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
T |
C |
16: 87,270,075 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
G |
11: 118,159,491 (GRCm39) |
L486S |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,239,816 (GRCm39) |
I72V |
probably benign |
Het |
| Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
| Zfp160 |
A |
G |
17: 21,247,244 (GRCm39) |
K598R |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,158 (GRCm39) |
N535D |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,008 (GRCm39) |
T946A |
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 |
|
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 |
|
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'- GCTTCTGCTTTCTTAGTAGCACATA -3'
(R):5'- AGACGACTTTTGCTGCTCTC -3'
Sequencing Primer
(F):5'- CCACACACTCTAGAGTTGTC -3'
(R):5'- GCCTAGTCTAGCTAACGTTGAGC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation