Incidental Mutation 'R9524:Kif26a'
ID |
719105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif26a
|
Ensembl Gene |
ENSMUSG00000021294 |
Gene Name |
kinesin family member 26A |
Synonyms |
N-11 kinesin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9524 (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 112140286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 505
(T505M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
AlphaFold |
Q52KG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128402
AA Change: T505M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000119482 Gene: ENSMUSG00000021294 AA Change: T505M
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930438A08Rik |
T |
G |
11: 58,180,594 (GRCm39) |
|
probably null |
Het |
Adra2c |
G |
A |
5: 35,438,143 (GRCm39) |
R305Q |
probably benign |
Het |
Ahnak |
A |
G |
19: 9,014,617 (GRCm39) |
D147G |
|
Het |
Arhgap30 |
T |
A |
1: 171,225,114 (GRCm39) |
S57T |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,408,607 (GRCm39) |
I2498T |
probably damaging |
Het |
Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
Cc2d1a |
G |
T |
8: 84,870,744 (GRCm39) |
D101E |
probably benign |
Het |
Cntfr |
A |
G |
4: 41,661,995 (GRCm39) |
L249P |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,071,876 (GRCm39) |
I940T |
possibly damaging |
Het |
Dnah12 |
T |
G |
14: 26,572,494 (GRCm39) |
C2862G |
probably null |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,976,309 (GRCm39) |
F1247L |
possibly damaging |
Het |
Dpp10 |
T |
C |
1: 123,264,611 (GRCm39) |
Q737R |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,959,897 (GRCm39) |
V673A |
possibly damaging |
Het |
Eif2a |
A |
T |
3: 58,448,467 (GRCm39) |
K100I |
possibly damaging |
Het |
Flnc |
C |
A |
6: 29,461,109 (GRCm39) |
N2694K |
probably damaging |
Het |
Fv1 |
T |
A |
4: 147,953,768 (GRCm39) |
D111E |
possibly damaging |
Het |
Gcnt3 |
G |
A |
9: 69,941,569 (GRCm39) |
A333V |
probably damaging |
Het |
Gpr151 |
T |
C |
18: 42,712,710 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
A |
G |
6: 100,727,416 (GRCm39) |
T177A |
probably benign |
Het |
Hnmt |
G |
A |
2: 23,893,880 (GRCm39) |
L205F |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,172,740 (GRCm39) |
|
probably null |
Het |
Ikzf2 |
T |
C |
1: 69,578,337 (GRCm39) |
S391G |
probably benign |
Het |
Kif3b |
A |
T |
2: 153,159,460 (GRCm39) |
K420N |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,730,294 (GRCm39) |
V3341A |
unknown |
Het |
Lce1i |
T |
C |
3: 92,685,081 (GRCm39) |
K32E |
unknown |
Het |
Lmf1 |
A |
G |
17: 25,881,514 (GRCm39) |
Y521C |
probably damaging |
Het |
Mki67 |
C |
T |
7: 135,305,913 (GRCm39) |
C655Y |
probably damaging |
Het |
Morc3 |
T |
A |
16: 93,667,401 (GRCm39) |
V593E |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,497,314 (GRCm39) |
F6613L |
probably benign |
Het |
Naip1 |
G |
A |
13: 100,563,101 (GRCm39) |
T688I |
probably benign |
Het |
Or2n1d |
T |
A |
17: 38,646,540 (GRCm39) |
L164* |
probably null |
Het |
Otop2 |
T |
A |
11: 115,214,503 (GRCm39) |
C87S |
probably benign |
Het |
Picalm |
T |
A |
7: 89,810,484 (GRCm39) |
L97* |
probably null |
Het |
Pik3c2g |
T |
A |
6: 139,606,768 (GRCm39) |
W272R |
probably damaging |
Het |
Plekhg4 |
G |
A |
8: 106,101,398 (GRCm39) |
G20R |
unknown |
Het |
Ppp1r35 |
G |
A |
5: 137,777,304 (GRCm39) |
A17T |
unknown |
Het |
Ppp2r5e |
A |
T |
12: 75,509,167 (GRCm39) |
Y371N |
possibly damaging |
Het |
Rexo1 |
T |
C |
10: 80,386,872 (GRCm39) |
E62G |
probably damaging |
Het |
Rtl1 |
T |
C |
12: 109,556,973 (GRCm39) |
E1622G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,723,600 (GRCm39) |
E4181G |
probably damaging |
Het |
Saxo1 |
C |
A |
4: 86,397,132 (GRCm39) |
M135I |
probably benign |
Het |
Shank2 |
C |
A |
7: 143,964,183 (GRCm39) |
P597Q |
possibly damaging |
Het |
Shld2 |
G |
A |
14: 33,971,245 (GRCm39) |
Q547* |
probably null |
Het |
Slc44a1 |
G |
A |
4: 53,542,389 (GRCm39) |
V308I |
probably benign |
Het |
Slc6a21 |
A |
G |
7: 44,937,785 (GRCm39) |
H367R |
probably benign |
Het |
Snx11 |
G |
T |
11: 96,660,023 (GRCm39) |
T222K |
probably benign |
Het |
Snx4 |
C |
T |
16: 33,112,228 (GRCm39) |
Q388* |
probably null |
Het |
Sulf1 |
T |
C |
1: 12,918,622 (GRCm39) |
L831P |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
Unc5c |
T |
C |
3: 141,494,683 (GRCm39) |
V406A |
possibly damaging |
Het |
Unc5d |
A |
C |
8: 29,365,639 (GRCm39) |
N115K |
probably damaging |
Het |
Usp28 |
C |
A |
9: 48,947,026 (GRCm39) |
T819N |
probably damaging |
Het |
Usp42 |
T |
C |
5: 143,702,704 (GRCm39) |
D639G |
possibly damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,897,564 (GRCm39) |
M193K |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,823 (GRCm39) |
Y247H |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,822,814 (GRCm39) |
D2989G |
|
Het |
Vsig2 |
A |
G |
9: 37,455,335 (GRCm39) |
E295G |
probably benign |
Het |
Wdfy3 |
T |
A |
5: 102,055,333 (GRCm39) |
N1579I |
probably benign |
Het |
Zfp521 |
T |
C |
18: 13,980,173 (GRCm39) |
D80G |
possibly damaging |
Het |
Zfp663 |
A |
C |
2: 165,195,607 (GRCm39) |
L204R |
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 |
|
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 |
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'- TGACAGGACTCTTGAGGGTAGG -3'
(R):5'- AGAGCATATGGGAGCTTCGC -3'
Sequencing Primer
(F):5'- AGGCTGTGGAGAGTCTGAG -3'
(R):5'- CACGGACGTGTCTTCAGTG -3'
|
Posted On |
2022-07-18 |