Incidental Mutation 'IGL02138:Kif26a'
ID |
281418 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02138
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112141284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 696
(S696P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
AlphaFold |
Q52KG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128402
AA Change: S696P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119482 Gene: ENSMUSG00000021294 AA Change: S696P
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
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
G |
14: 32,384,672 (GRCm39) |
D431A |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,401,631 (GRCm39) |
M209T |
probably damaging |
Het |
Ano8 |
T |
C |
8: 71,937,486 (GRCm39) |
H86R |
probably damaging |
Het |
Camk1d |
G |
T |
2: 5,449,895 (GRCm39) |
Y87* |
probably null |
Het |
Capza3 |
A |
G |
6: 139,987,872 (GRCm39) |
D157G |
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,009,947 (GRCm39) |
D124E |
probably benign |
Het |
Col14a1 |
C |
A |
15: 55,284,231 (GRCm39) |
Q831K |
unknown |
Het |
Copb2 |
C |
T |
9: 98,469,605 (GRCm39) |
P829S |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,208,419 (GRCm39) |
V929A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,175,991 (GRCm39) |
V18A |
probably benign |
Het |
Ecm2 |
G |
T |
13: 49,676,304 (GRCm39) |
L340F |
probably damaging |
Het |
Hacl1 |
A |
G |
14: 31,352,940 (GRCm39) |
L149P |
probably benign |
Het |
Higd2a |
A |
T |
13: 54,738,235 (GRCm39) |
|
probably null |
Het |
Hspa12a |
A |
T |
19: 58,816,730 (GRCm39) |
S28R |
probably benign |
Het |
Igkv5-37 |
A |
G |
6: 69,940,435 (GRCm39) |
Y70H |
probably damaging |
Het |
Iho1 |
G |
A |
9: 108,283,820 (GRCm39) |
T208I |
probably benign |
Het |
Kif11 |
T |
C |
19: 37,373,057 (GRCm39) |
V92A |
probably damaging |
Het |
Kng1 |
A |
T |
16: 22,886,558 (GRCm39) |
N168Y |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Lepr |
A |
G |
4: 101,625,264 (GRCm39) |
D473G |
probably damaging |
Het |
Lipt1 |
G |
A |
1: 37,914,867 (GRCm39) |
E308K |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,194,792 (GRCm39) |
F76Y |
probably benign |
Het |
Mapk1 |
A |
G |
16: 16,841,316 (GRCm39) |
I163V |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,017,638 (GRCm39) |
E430G |
possibly damaging |
Het |
Med13 |
A |
T |
11: 86,177,591 (GRCm39) |
S1502T |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,307,046 (GRCm39) |
H237L |
probably benign |
Het |
Mss51 |
A |
C |
14: 20,534,923 (GRCm39) |
Y282* |
probably null |
Het |
Ncoa3 |
A |
G |
2: 165,897,182 (GRCm39) |
T658A |
probably benign |
Het |
Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,196 (GRCm39) |
S188T |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Ppme1 |
C |
T |
7: 99,983,139 (GRCm39) |
M335I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sntg2 |
T |
A |
12: 30,357,230 (GRCm39) |
|
probably null |
Het |
Spryd3 |
T |
C |
15: 102,027,354 (GRCm39) |
|
probably benign |
Het |
Srpx |
A |
G |
X: 9,933,662 (GRCm39) |
|
probably null |
Het |
St8sia1 |
G |
T |
6: 142,909,504 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
G |
14: 30,865,470 (GRCm39) |
|
probably null |
Het |
Sycp2 |
A |
T |
2: 178,000,047 (GRCm39) |
S976R |
probably benign |
Het |
Sycp2 |
T |
A |
2: 178,043,783 (GRCm39) |
K108* |
probably null |
Het |
Tagap1 |
T |
C |
17: 7,223,485 (GRCm39) |
T404A |
probably damaging |
Het |
Tg |
C |
T |
15: 66,589,082 (GRCm39) |
T21I |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,759,202 (GRCm39) |
Y665F |
probably damaging |
Het |
Tmc8 |
T |
G |
11: 117,682,081 (GRCm39) |
S525A |
probably benign |
Het |
Tor4a |
A |
T |
2: 25,084,810 (GRCm39) |
D364E |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,211,253 (GRCm39) |
I236V |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,434,226 (GRCm39) |
|
probably benign |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,347,300 (GRCm39) |
R3180S |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,735,724 (GRCm39) |
C1077R |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |