Incidental Mutation 'R4050:Kif26a'
ID |
314123 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif26a
|
Ensembl Gene |
ENSMUSG00000021294 |
Gene Name |
kinesin family member 26A |
Synonyms |
N-11 kinesin |
MMRRC Submission |
040968-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4050 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112146350 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1812
(M1812K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
AlphaFold |
Q52KG5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000128402
AA Change: M1812K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000119482 Gene: ENSMUSG00000021294 AA Change: M1812K
Domain | Start | End | E-Value | Type |
low complexity region
|
238 |
248 |
N/A |
INTRINSIC |
low complexity region
|
279 |
297 |
N/A |
INTRINSIC |
KISc
|
362 |
726 |
9.57e-35 |
SMART |
low complexity region
|
727 |
739 |
N/A |
INTRINSIC |
low complexity region
|
740 |
754 |
N/A |
INTRINSIC |
low complexity region
|
932 |
957 |
N/A |
INTRINSIC |
low complexity region
|
1005 |
1012 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1054 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1328 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1458 |
1471 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1493 |
N/A |
INTRINSIC |
low complexity region
|
1519 |
1538 |
N/A |
INTRINSIC |
low complexity region
|
1574 |
1587 |
N/A |
INTRINSIC |
low complexity region
|
1664 |
1675 |
N/A |
INTRINSIC |
low complexity region
|
1699 |
1713 |
N/A |
INTRINSIC |
coiled coil region
|
1780 |
1812 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183816
|
Meta Mutation Damage Score |
0.2151 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
97% (58/60) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
A |
G |
4: 148,029,449 (GRCm39) |
D473G |
probably damaging |
Het |
Abca1 |
T |
A |
4: 53,044,144 (GRCm39) |
Q1826L |
probably damaging |
Het |
Apob |
G |
A |
12: 8,065,390 (GRCm39) |
V4087I |
probably benign |
Het |
Atp10b |
G |
A |
11: 43,150,363 (GRCm39) |
A1354T |
probably benign |
Het |
Baz1a |
A |
G |
12: 54,976,404 (GRCm39) |
V424A |
probably benign |
Het |
Cdc20b |
G |
A |
13: 113,200,819 (GRCm39) |
D180N |
probably benign |
Het |
Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
Ddb1 |
A |
G |
19: 10,605,171 (GRCm39) |
D1053G |
probably benign |
Het |
Ddx39a |
T |
A |
8: 84,448,863 (GRCm39) |
M246K |
probably benign |
Het |
Dip2a |
G |
A |
10: 76,114,441 (GRCm39) |
T1013M |
probably damaging |
Het |
Edar |
G |
T |
10: 58,445,769 (GRCm39) |
T265N |
possibly damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,852,410 (GRCm39) |
V1311A |
possibly damaging |
Het |
Gbp8 |
T |
A |
5: 105,179,104 (GRCm39) |
I132F |
probably damaging |
Het |
Gga1 |
A |
G |
15: 78,775,691 (GRCm39) |
D382G |
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
Gm10518 |
C |
A |
1: 179,631,378 (GRCm39) |
|
probably benign |
Het |
Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
H2-Eb1 |
T |
A |
17: 34,533,342 (GRCm39) |
L188Q |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,646,599 (GRCm39) |
S95G |
probably damaging |
Het |
Hnf1a |
T |
A |
5: 115,108,633 (GRCm39) |
N91Y |
probably damaging |
Het |
Ints10 |
C |
T |
8: 69,280,003 (GRCm39) |
S710F |
probably damaging |
Het |
Kazn |
C |
T |
4: 141,834,215 (GRCm39) |
E614K |
unknown |
Het |
Lmo7 |
A |
T |
14: 102,139,713 (GRCm39) |
K488* |
probably null |
Het |
Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
Met |
A |
G |
6: 17,533,983 (GRCm39) |
T645A |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,185,903 (GRCm39) |
|
probably null |
Het |
Mycl |
A |
T |
4: 122,890,632 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
G |
A |
4: 46,147,483 (GRCm39) |
R110H |
probably damaging |
Het |
Nfasc |
G |
T |
1: 132,538,043 (GRCm39) |
|
probably benign |
Het |
Nup35 |
A |
G |
2: 80,486,320 (GRCm39) |
I212V |
probably benign |
Het |
Or2y8 |
T |
G |
11: 52,035,961 (GRCm39) |
Y132S |
probably damaging |
Het |
Or4p20 |
A |
G |
2: 88,253,967 (GRCm39) |
M134T |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcgf5 |
G |
A |
19: 36,420,311 (GRCm39) |
S181N |
probably damaging |
Het |
Plk2 |
C |
T |
13: 110,536,400 (GRCm39) |
T617I |
probably damaging |
Het |
Polq |
A |
T |
16: 36,913,182 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
Pramel24 |
T |
C |
4: 143,453,692 (GRCm39) |
S267P |
probably benign |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Prune1 |
T |
C |
3: 95,169,542 (GRCm39) |
K220R |
possibly damaging |
Het |
Rab3gap2 |
G |
A |
1: 185,004,840 (GRCm39) |
|
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,014,697 (GRCm39) |
A1005V |
probably benign |
Het |
Samd15 |
T |
G |
12: 87,247,406 (GRCm39) |
N30K |
probably benign |
Het |
Scn8a |
A |
T |
15: 100,911,294 (GRCm39) |
K905* |
probably null |
Het |
Scrib |
G |
A |
15: 75,923,322 (GRCm39) |
R1245W |
possibly damaging |
Het |
Skint4 |
C |
T |
4: 111,981,811 (GRCm39) |
S260L |
probably benign |
Het |
Slc29a2 |
A |
T |
19: 5,079,481 (GRCm39) |
M339L |
possibly damaging |
Het |
Slx9 |
T |
C |
10: 77,350,164 (GRCm39) |
R75G |
possibly damaging |
Het |
Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
Synpo2 |
T |
C |
3: 122,907,927 (GRCm39) |
D463G |
possibly damaging |
Het |
Taf4 |
C |
A |
2: 179,573,805 (GRCm39) |
G688C |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,623,507 (GRCm39) |
S2148P |
probably benign |
Het |
Tpte |
T |
A |
8: 22,856,000 (GRCm39) |
V600E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,651,510 (GRCm39) |
V10953A |
probably benign |
Het |
Vav2 |
T |
C |
2: 27,178,691 (GRCm39) |
Y333C |
probably benign |
Het |
Vav2 |
A |
G |
2: 27,181,415 (GRCm39) |
S311P |
probably damaging |
Het |
Zbtb26 |
A |
C |
2: 37,327,000 (GRCm39) |
M1R |
probably null |
Het |
Zfp26 |
G |
A |
9: 20,353,525 (GRCm39) |
P88L |
probably benign |
Het |
Zfp324 |
T |
C |
7: 12,704,794 (GRCm39) |
F328L |
probably damaging |
Het |
|
Other mutations in Kif26a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Kif26a
|
APN |
12 |
112,124,066 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01734:Kif26a
|
APN |
12 |
112,143,262 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01916:Kif26a
|
APN |
12 |
112,143,328 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02080:Kif26a
|
APN |
12 |
112,124,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02138:Kif26a
|
APN |
12 |
112,141,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02145:Kif26a
|
APN |
12 |
112,143,409 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02285:Kif26a
|
APN |
12 |
112,123,941 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02393:Kif26a
|
APN |
12 |
112,139,098 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02445:Kif26a
|
APN |
12 |
112,140,177 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02865:Kif26a
|
APN |
12 |
112,144,049 (GRCm39) |
nonsense |
probably null |
|
IGL03057:Kif26a
|
APN |
12 |
112,142,208 (GRCm39) |
nonsense |
probably null |
|
IGL03204:Kif26a
|
APN |
12 |
112,141,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R0013:Kif26a
|
UTSW |
12 |
112,144,314 (GRCm39) |
missense |
probably benign |
0.03 |
R0034:Kif26a
|
UTSW |
12 |
112,135,397 (GRCm39) |
splice site |
probably benign |
|
R0089:Kif26a
|
UTSW |
12 |
112,143,837 (GRCm39) |
missense |
probably damaging |
0.98 |
R0111:Kif26a
|
UTSW |
12 |
112,129,771 (GRCm39) |
splice site |
probably benign |
|
R0220:Kif26a
|
UTSW |
12 |
112,123,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R0346:Kif26a
|
UTSW |
12 |
112,145,782 (GRCm39) |
missense |
probably null |
0.09 |
R0383:Kif26a
|
UTSW |
12 |
112,144,510 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0478:Kif26a
|
UTSW |
12 |
112,142,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Kif26a
|
UTSW |
12 |
112,145,905 (GRCm39) |
splice site |
probably null |
|
R1163:Kif26a
|
UTSW |
12 |
112,146,379 (GRCm39) |
missense |
probably benign |
0.08 |
R1450:Kif26a
|
UTSW |
12 |
112,140,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Kif26a
|
UTSW |
12 |
112,113,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1616:Kif26a
|
UTSW |
12 |
112,123,680 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1723:Kif26a
|
UTSW |
12 |
112,140,292 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1728:Kif26a
|
UTSW |
12 |
112,143,219 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1729:Kif26a
|
UTSW |
12 |
112,143,219 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1903:Kif26a
|
UTSW |
12 |
112,141,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R2283:Kif26a
|
UTSW |
12 |
112,143,787 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3862:Kif26a
|
UTSW |
12 |
112,146,323 (GRCm39) |
missense |
probably benign |
0.30 |
R3906:Kif26a
|
UTSW |
12 |
112,143,324 (GRCm39) |
missense |
probably benign |
|
R4270:Kif26a
|
UTSW |
12 |
112,139,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Kif26a
|
UTSW |
12 |
112,139,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Kif26a
|
UTSW |
12 |
112,142,007 (GRCm39) |
missense |
probably benign |
|
R4732:Kif26a
|
UTSW |
12 |
112,142,007 (GRCm39) |
missense |
probably benign |
|
R4733:Kif26a
|
UTSW |
12 |
112,142,007 (GRCm39) |
missense |
probably benign |
|
R4908:Kif26a
|
UTSW |
12 |
112,123,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Kif26a
|
UTSW |
12 |
112,144,228 (GRCm39) |
missense |
probably damaging |
0.99 |
R5566:Kif26a
|
UTSW |
12 |
112,123,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R6280:Kif26a
|
UTSW |
12 |
112,141,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R6422:Kif26a
|
UTSW |
12 |
112,135,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6513:Kif26a
|
UTSW |
12 |
112,141,926 (GRCm39) |
missense |
probably damaging |
0.97 |
R6860:Kif26a
|
UTSW |
12 |
112,113,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R6879:Kif26a
|
UTSW |
12 |
112,144,087 (GRCm39) |
missense |
probably benign |
|
R7127:Kif26a
|
UTSW |
12 |
112,144,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7366:Kif26a
|
UTSW |
12 |
112,129,976 (GRCm39) |
critical splice donor site |
probably null |
|
R7595:Kif26a
|
UTSW |
12 |
112,145,759 (GRCm39) |
missense |
probably benign |
0.30 |
R7630:Kif26a
|
UTSW |
12 |
112,142,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R7784:Kif26a
|
UTSW |
12 |
112,144,581 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7992:Kif26a
|
UTSW |
12 |
112,142,481 (GRCm39) |
missense |
probably benign |
|
R8170:Kif26a
|
UTSW |
12 |
112,141,752 (GRCm39) |
splice site |
probably null |
|
R9206:Kif26a
|
UTSW |
12 |
112,144,480 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9287:Kif26a
|
UTSW |
12 |
112,145,719 (GRCm39) |
nonsense |
probably null |
|
R9293:Kif26a
|
UTSW |
12 |
112,112,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R9524:Kif26a
|
UTSW |
12 |
112,140,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9559:Kif26a
|
UTSW |
12 |
112,142,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Kif26a
|
UTSW |
12 |
112,143,625 (GRCm39) |
missense |
probably damaging |
0.99 |
R9793:Kif26a
|
UTSW |
12 |
112,142,887 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Kif26a
|
UTSW |
12 |
112,142,504 (GRCm39) |
missense |
probably benign |
0.26 |
Z1176:Kif26a
|
UTSW |
12 |
112,144,052 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Kif26a
|
UTSW |
12 |
112,144,045 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTGCCGTTTAAATCTGAAC -3'
(R):5'- CTGGGATCCTATATCTGCTGGG -3'
Sequencing Primer
(F):5'- GCCGTTTAAATCTGAACCCACTC -3'
(R):5'- TTCTGCCACAGAGGGAG -3'
|
Posted On |
2015-04-30 |