Incidental Mutation 'R7784:Kif26a'
ID |
599459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif26a
|
Ensembl Gene |
ENSMUSG00000021294 |
Gene Name |
kinesin family member 26A |
Synonyms |
N-11 kinesin |
MMRRC Submission |
045840-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7784 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 112144581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1612
(R1612G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
AlphaFold |
Q52KG5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128402
AA Change: R1612G
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119482 Gene: ENSMUSG00000021294 AA Change: R1612G
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
A |
T |
5: 146,119,638 (GRCm39) |
|
probably null |
Het |
3425401B19Rik |
A |
T |
14: 32,381,797 (GRCm39) |
S1389R |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,045,243 (GRCm39) |
C363* |
probably null |
Het |
Actbl2 |
T |
A |
13: 111,391,945 (GRCm39) |
N93K |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,223,197 (GRCm39) |
Y993H |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,739,510 (GRCm39) |
W653* |
probably null |
Het |
Akap13 |
T |
A |
7: 75,260,076 (GRCm39) |
V97D |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,396 (GRCm39) |
D613V |
probably damaging |
Het |
Col10a1 |
C |
A |
10: 34,270,214 (GRCm39) |
P62H |
unknown |
Het |
Cpb2 |
A |
T |
14: 75,512,480 (GRCm39) |
N298Y |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,789,396 (GRCm39) |
|
probably null |
Het |
Ddx6 |
T |
C |
9: 44,541,439 (GRCm39) |
|
probably null |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Eps8 |
T |
A |
6: 137,476,585 (GRCm39) |
I605L |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,475,121 (GRCm39) |
L304P |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,114,658 (GRCm39) |
I929F |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,551 (GRCm39) |
N393I |
probably damaging |
Het |
Fbxw25 |
C |
T |
9: 109,479,187 (GRCm39) |
D355N |
|
Het |
Ffar2 |
T |
C |
7: 30,518,683 (GRCm39) |
K286E |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
Ganc |
G |
A |
2: 120,267,149 (GRCm39) |
W488* |
probably null |
Het |
Ifi207 |
T |
A |
1: 173,557,698 (GRCm39) |
M347L |
unknown |
Het |
Kat6b |
A |
T |
14: 21,710,909 (GRCm39) |
I619F |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,837,320 (GRCm39) |
|
probably null |
Het |
Krt39 |
A |
T |
11: 99,411,857 (GRCm39) |
C76* |
probably null |
Het |
Lcmt1 |
G |
T |
7: 123,000,718 (GRCm39) |
R84L |
probably benign |
Het |
Lrit1 |
A |
G |
14: 36,783,737 (GRCm39) |
Y355C |
probably benign |
Het |
Mad2l1 |
C |
A |
6: 66,512,397 (GRCm39) |
|
probably null |
Het |
Med23 |
C |
T |
10: 24,778,346 (GRCm39) |
T870M |
probably damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,517 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
A |
G |
14: 60,537,894 (GRCm39) |
D593G |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,752,166 (GRCm39) |
V683M |
|
Het |
Neb |
T |
A |
2: 52,125,500 (GRCm39) |
M506L |
|
Het |
Or12d13 |
T |
C |
17: 37,647,469 (GRCm39) |
Y218C |
probably benign |
Het |
Or12d13 |
A |
G |
17: 37,647,946 (GRCm39) |
F59S |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,194,322 (GRCm39) |
H158Q |
possibly damaging |
Het |
Or9m1 |
G |
A |
2: 87,733,537 (GRCm39) |
T161I |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,316,295 (GRCm39) |
F294L |
probably damaging |
Het |
Rabgap1 |
G |
A |
2: 37,377,544 (GRCm39) |
S347N |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,044,201 (GRCm39) |
T350A |
|
Het |
Rbp3 |
A |
T |
14: 33,676,115 (GRCm39) |
H21L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,212,881 (GRCm39) |
V1069F |
unknown |
Het |
Rtn4 |
T |
A |
11: 29,691,048 (GRCm39) |
L1113* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,606,040 (GRCm39) |
F2407L |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,425,166 (GRCm39) |
D107E |
probably damaging |
Het |
Septin4 |
A |
G |
11: 87,469,834 (GRCm39) |
T7A |
probably benign |
Het |
Slc34a3 |
T |
A |
2: 25,122,237 (GRCm39) |
I123F |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,639,936 (GRCm39) |
Y243H |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,889,114 (GRCm39) |
E66V |
probably damaging |
Het |
Slco1a7 |
C |
T |
6: 141,658,919 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
T |
A |
1: 85,190,195 (GRCm39) |
|
probably null |
Het |
Spata33 |
A |
G |
8: 123,939,991 (GRCm39) |
R68G |
unknown |
Het |
Spta1 |
G |
A |
1: 174,030,017 (GRCm39) |
D928N |
probably damaging |
Het |
St8sia5 |
A |
G |
18: 77,342,246 (GRCm39) |
S319G |
probably benign |
Het |
Tmem208 |
A |
G |
8: 106,055,465 (GRCm39) |
D149G |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,193,171 (GRCm39) |
I583F |
probably damaging |
Het |
Trio |
C |
T |
15: 27,764,080 (GRCm39) |
V2015M |
probably damaging |
Het |
Tsc22d1 |
C |
T |
14: 76,654,141 (GRCm39) |
Q207* |
probably null |
Het |
Tshr |
A |
G |
12: 91,472,079 (GRCm39) |
D143G |
probably benign |
Het |
Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,176,789 (GRCm39) |
T1318S |
possibly damaging |
Het |
Utp14b |
A |
G |
1: 78,642,660 (GRCm39) |
K186R |
probably damaging |
Het |
Vars2 |
C |
T |
17: 35,969,050 (GRCm39) |
A884T |
possibly damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,596,183 (GRCm39) |
Q19R |
possibly 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 |
|
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 |
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'- ACCATCATGGGCACTAAGC -3'
(R):5'- GTTCCACTCTCACTCATGGAG -3'
Sequencing Primer
(F):5'- GCACTAAGCAGGCATTTCG -3'
(R):5'- ACTCTCACTCATGGAGTCTGGAG -3'
|
Posted On |
2019-11-26 |