Incidental Mutation 'R4271:Kif26a'
| ID |
322185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif26a
|
| Ensembl Gene |
ENSMUSG00000021294 |
| Gene Name |
kinesin family member 26A |
| Synonyms |
N-11 kinesin |
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 112139848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 460
(S460F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
| AlphaFold |
Q52KG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128402
AA Change: S460F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: S460F
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
| Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
| Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
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 |
|
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'- CAGATGGGCCTCAGGTGTATAC -3'
(R):5'- TGTCAGCTCAGAAACCTGCC -3'
Sequencing Primer
(F):5'- GCCTCAGGTGTATACAGACATAGC -3'
(R):5'- TCAGAAACCTGCCCAGTGTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation