Incidental Mutation 'R7127:Kif26a'
| ID |
552412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif26a
|
| Ensembl Gene |
ENSMUSG00000021294 |
| Gene Name |
kinesin family member 26A |
| Synonyms |
N-11 kinesin |
| MMRRC Submission |
045246-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112144579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 1611
(P1611L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
| AlphaFold |
Q52KG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128402
AA Change: P1611L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: P1611L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,931,825 (GRCm39) |
T26I |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,300,797 (GRCm39) |
I244N |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,752,218 (GRCm39) |
|
probably null |
Het |
| Aox4 |
T |
A |
1: 58,268,033 (GRCm39) |
N204K |
probably benign |
Het |
| Arl13b |
C |
T |
16: 62,622,102 (GRCm39) |
G397D |
probably damaging |
Het |
| AU041133 |
T |
C |
10: 81,986,700 (GRCm39) |
F118L |
probably benign |
Het |
| Brinp1 |
C |
T |
4: 68,711,260 (GRCm39) |
R316H |
probably benign |
Het |
| Cabcoco1 |
C |
T |
10: 68,272,160 (GRCm39) |
V268I |
probably benign |
Het |
| Car15 |
T |
C |
16: 17,656,060 (GRCm39) |
|
probably benign |
Het |
| Ccdc185 |
G |
T |
1: 182,576,421 (GRCm39) |
D89E |
possibly damaging |
Het |
| Cckar |
T |
A |
5: 53,863,817 (GRCm39) |
Y48F |
probably damaging |
Het |
| Cdyl |
T |
A |
13: 36,040,651 (GRCm39) |
S282T |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,711,806 (GRCm39) |
T730A |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,045,695 (GRCm39) |
S318P |
possibly damaging |
Het |
| Depdc1b |
T |
C |
13: 108,460,462 (GRCm39) |
F24S |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,122,430 (GRCm39) |
G565D |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,003,529 (GRCm39) |
Y1073* |
probably null |
Het |
| Epg5 |
A |
T |
18: 78,072,140 (GRCm39) |
N2384I |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,110 (GRCm39) |
D594G |
probably benign |
Het |
| Flad1 |
A |
G |
3: 89,310,725 (GRCm39) |
Y441H |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,636,703 (GRCm39) |
T2150A |
probably benign |
Het |
| Fnta |
C |
A |
8: 26,497,231 (GRCm39) |
R206L |
probably damaging |
Het |
| Gadd45b |
A |
T |
10: 80,766,999 (GRCm39) |
M95L |
probably benign |
Het |
| Gbp8 |
A |
T |
5: 105,165,578 (GRCm39) |
H358Q |
probably benign |
Het |
| Glipr1l3 |
C |
A |
10: 111,983,995 (GRCm39) |
G157V |
probably damaging |
Het |
| Hoxc13 |
T |
C |
15: 102,829,903 (GRCm39) |
I94T |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,272,779 (GRCm39) |
D361G |
probably damaging |
Het |
| Igkv3-4 |
T |
A |
6: 70,649,155 (GRCm39) |
Y51* |
probably null |
Het |
| Lamb1 |
T |
C |
12: 31,374,314 (GRCm39) |
L1559P |
probably damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,960,829 (GRCm39) |
V413A |
probably damaging |
Het |
| Med6 |
C |
T |
12: 81,635,774 (GRCm39) |
R86Q |
probably damaging |
Het |
| Myrf |
A |
T |
19: 10,192,705 (GRCm39) |
S605T |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,936 (GRCm39) |
C177S |
probably damaging |
Het |
| Plk3 |
A |
T |
4: 116,987,767 (GRCm39) |
V429E |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,967,222 (GRCm39) |
P131L |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,831 (GRCm39) |
R318* |
probably null |
Het |
| Rab34 |
A |
T |
11: 78,082,056 (GRCm39) |
K152* |
probably null |
Het |
| Rasef |
A |
T |
4: 73,662,369 (GRCm39) |
S194T |
probably damaging |
Het |
| Rcc1 |
A |
G |
4: 132,062,107 (GRCm39) |
S269P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,443 (GRCm39) |
F830L |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,670,599 (GRCm39) |
V3466M |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,155,071 (GRCm39) |
I174T |
possibly damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,525,200 (GRCm39) |
M1V |
probably null |
Het |
| Smok3c |
A |
T |
5: 138,062,971 (GRCm39) |
I153F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,203,419 (GRCm39) |
S1736L |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,426,446 (GRCm39) |
M155K |
probably benign |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Sun2 |
T |
C |
15: 79,612,100 (GRCm39) |
I528M |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Taok2 |
G |
T |
7: 126,466,326 (GRCm39) |
A831E |
possibly damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,411,739 (GRCm39) |
F91L |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 133,031,922 (GRCm39) |
S279P |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,657,148 (GRCm39) |
L696H |
probably damaging |
Het |
| Trank1 |
T |
G |
9: 111,194,864 (GRCm39) |
S963A |
possibly damaging |
Het |
| Trf |
A |
G |
9: 103,102,326 (GRCm39) |
V184A |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,903,406 (GRCm39) |
M231K |
possibly damaging |
Het |
| Tuba1a |
T |
G |
15: 98,849,455 (GRCm39) |
T41P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,478,104 (GRCm39) |
Q3573R |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,853 (GRCm39) |
H540Y |
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 |
|
|
R4050:Kif26a
|
UTSW |
12 |
112,146,350 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
|
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'- GCACTAAGCAGGCATTTCG -3'
(R):5'- CTCTCTTCTTCGGGGACTTGAG -3'
Sequencing Primer
(F):5'- ATTTCGGGCTGCCCATAG -3'
(R):5'- ACTCTCACTCATGGAGTCTGGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation