Incidental Mutation 'R6513:Kif26a'
ID |
520023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif26a
|
Ensembl Gene |
ENSMUSG00000021294 |
Gene Name |
kinesin family member 26A |
Synonyms |
N-11 kinesin |
MMRRC Submission |
044640-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6513 (G1)
|
Quality Score |
221.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
112112642-112148181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112141926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 727
(S727T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000128402]
|
AlphaFold |
Q52KG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128402
AA Change: S727T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119482 Gene: ENSMUSG00000021294 AA Change: S727T
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (62/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
C |
16: 90,852,654 (GRCm39) |
S161G |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,616,919 (GRCm39) |
V2290A |
probably benign |
Het |
Aox4 |
A |
G |
1: 58,252,212 (GRCm39) |
N29S |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,891,379 (GRCm39) |
R592G |
possibly damaging |
Het |
Caap1 |
A |
T |
4: 94,389,640 (GRCm39) |
D231E |
possibly damaging |
Het |
Cabp1 |
T |
A |
5: 115,307,193 (GRCm39) |
M165L |
possibly damaging |
Het |
Calhm4 |
T |
A |
10: 33,917,630 (GRCm39) |
R274* |
probably null |
Het |
Cep72 |
A |
T |
13: 74,206,582 (GRCm39) |
L73H |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,525,743 (GRCm39) |
S731G |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,179,295 (GRCm39) |
I258V |
probably benign |
Het |
Dsg1c |
T |
G |
18: 20,407,687 (GRCm39) |
N344K |
probably benign |
Het |
Enah |
A |
G |
1: 181,841,920 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
A |
2: 125,225,591 (GRCm39) |
S554C |
probably damaging |
Het |
Fkrp |
C |
A |
7: 16,545,037 (GRCm39) |
R275L |
possibly damaging |
Het |
Gbp4 |
C |
T |
5: 105,270,986 (GRCm39) |
G215D |
possibly damaging |
Het |
Gli2 |
G |
A |
1: 118,783,284 (GRCm39) |
L239F |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,573 (GRCm39) |
D125G |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,494,259 (GRCm39) |
|
probably null |
Het |
Invs |
G |
A |
4: 48,397,534 (GRCm39) |
V370I |
possibly damaging |
Het |
Kdm2b |
A |
G |
5: 123,018,302 (GRCm39) |
V1040A |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,088,434 (GRCm39) |
V1059D |
possibly damaging |
Het |
Kifbp |
T |
C |
10: 62,410,813 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
G |
7: 43,705,169 (GRCm39) |
H112R |
probably benign |
Het |
Krt72 |
T |
G |
15: 101,685,187 (GRCm39) |
|
probably null |
Het |
Lactb |
C |
T |
9: 66,878,172 (GRCm39) |
R219H |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,373,045 (GRCm39) |
I612N |
probably damaging |
Het |
Meaf6 |
A |
C |
4: 124,983,697 (GRCm39) |
N51T |
probably damaging |
Het |
Mtap |
A |
G |
4: 89,066,498 (GRCm39) |
T36A |
possibly damaging |
Het |
Myo3a |
G |
A |
2: 22,412,143 (GRCm39) |
G713S |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,255 (GRCm39) |
T596I |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,224 (GRCm39) |
C172* |
probably null |
Het |
Or4f14 |
C |
G |
2: 111,743,228 (GRCm39) |
G16R |
possibly damaging |
Het |
Pam |
A |
G |
1: 97,765,752 (GRCm39) |
V759A |
possibly damaging |
Het |
Pcare |
T |
A |
17: 72,051,701 (GRCm39) |
E1217V |
probably damaging |
Het |
Pds5a |
T |
A |
5: 65,772,944 (GRCm39) |
I1220F |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,568,240 (GRCm39) |
M1222L |
possibly damaging |
Het |
Phospho1 |
C |
T |
11: 95,721,513 (GRCm39) |
A61V |
possibly damaging |
Het |
Pnpla7 |
G |
A |
2: 24,906,550 (GRCm39) |
V638I |
possibly damaging |
Het |
Pramel34 |
C |
A |
5: 93,785,391 (GRCm39) |
|
probably null |
Het |
Ptf1a |
T |
A |
2: 19,451,848 (GRCm39) |
D282E |
probably damaging |
Het |
Ptgs2 |
A |
T |
1: 149,975,879 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,522,156 (GRCm39) |
R471G |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,303,419 (GRCm39) |
S251P |
possibly damaging |
Het |
Shcbp1 |
T |
C |
8: 4,794,507 (GRCm39) |
M429V |
probably benign |
Het |
Shprh |
T |
C |
10: 11,062,637 (GRCm39) |
L1248P |
probably damaging |
Het |
Son |
T |
C |
16: 91,456,835 (GRCm39) |
|
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,233,995 (GRCm39) |
L355P |
probably damaging |
Het |
Tbc1d31 |
A |
T |
15: 57,818,778 (GRCm39) |
R794W |
probably damaging |
Het |
Telo2 |
T |
C |
17: 25,320,386 (GRCm39) |
Y766C |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,572,793 (GRCm39) |
|
probably null |
Het |
Tle4 |
T |
C |
19: 14,429,056 (GRCm39) |
D722G |
probably damaging |
Het |
Tprg1l |
A |
G |
4: 154,243,862 (GRCm39) |
V98A |
probably benign |
Het |
Trak1 |
C |
T |
9: 121,272,822 (GRCm39) |
R237C |
probably benign |
Het |
Vmn2r113 |
T |
C |
17: 23,177,715 (GRCm39) |
I833T |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,915,093 (GRCm39) |
S518C |
probably damaging |
Het |
Vmn2r49 |
A |
G |
7: 9,710,524 (GRCm39) |
I736T |
probably damaging |
Het |
Wdr38 |
T |
A |
2: 38,889,970 (GRCm39) |
|
probably null |
Het |
Wee2 |
A |
G |
6: 40,429,553 (GRCm39) |
E180G |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,604 (GRCm39) |
S197P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,629 (GRCm39) |
|
probably null |
Het |
Zfp516 |
T |
A |
18: 82,973,835 (GRCm39) |
L11Q |
probably damaging |
Het |
Zfp623 |
G |
A |
15: 75,819,317 (GRCm39) |
R91H |
probably benign |
Het |
Zkscan7 |
G |
A |
9: 122,725,170 (GRCm39) |
R713Q |
probably benign |
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 |
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'- ATGCTGATCACCCCTCAGAG -3'
(R):5'- CCCACATAGATGACCGTGTC -3'
Sequencing Primer
(F):5'- AGAAGCCGCCCTTATGTTCTG -3'
(R):5'- CATAGATGACCGTGTCGCAGG -3'
|
Posted On |
2018-06-06 |