Incidental Mutation 'R5037:Kif13b'
ID |
389594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif13b
|
Ensembl Gene |
ENSMUSG00000060012 |
Gene Name |
kinesin family member 13B |
Synonyms |
C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5037 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 64996038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 941
(Y941*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
AlphaFold |
A0A286YCV9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082508
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100473
AA Change: Y941*
|
SMART Domains |
Protein: ENSMUSP00000098041 Gene: ENSMUSG00000060012 AA Change: Y941*
Domain | Start | End | E-Value | Type |
KISc
|
3 |
361 |
1.4e-182 |
SMART |
FHA
|
470 |
520 |
6.86e-1 |
SMART |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
coiled coil region
|
617 |
646 |
N/A |
INTRINSIC |
coiled coil region
|
669 |
701 |
N/A |
INTRINSIC |
Pfam:KIF1B
|
756 |
802 |
4.1e-20 |
PFAM |
Pfam:DUF3694
|
1003 |
1279 |
1.4e-37 |
PFAM |
low complexity region
|
1514 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1532 |
1548 |
N/A |
INTRINSIC |
low complexity region
|
1574 |
1589 |
N/A |
INTRINSIC |
low complexity region
|
1617 |
1630 |
N/A |
INTRINSIC |
CAP_GLY
|
1719 |
1784 |
1.54e-29 |
SMART |
low complexity region
|
1814 |
1826 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224503
AA Change: Y941*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating cholesterol and factor VIII levels. [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 |
Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
Eif4g2 |
A |
T |
7: 110,676,239 (GRCm39) |
N347K |
probably benign |
Het |
Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
Eri2 |
G |
A |
7: 119,384,897 (GRCm39) |
L535F |
probably benign |
Het |
Garin5b |
T |
G |
7: 4,761,575 (GRCm39) |
K379T |
possibly damaging |
Het |
Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
Lrrn3 |
A |
T |
12: 41,503,594 (GRCm39) |
I241N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
Mthfd1 |
T |
G |
12: 76,340,914 (GRCm39) |
F258V |
probably damaging |
Het |
Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably damaging |
Het |
|
Other mutations in Kif13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Kif13b
|
APN |
14 |
64,907,142 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00485:Kif13b
|
APN |
14 |
65,002,522 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00495:Kif13b
|
APN |
14 |
64,951,562 (GRCm39) |
missense |
probably benign |
0.07 |
IGL00556:Kif13b
|
APN |
14 |
64,982,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00571:Kif13b
|
APN |
14 |
64,983,866 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00590:Kif13b
|
APN |
14 |
65,016,911 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01650:Kif13b
|
APN |
14 |
65,002,594 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01730:Kif13b
|
APN |
14 |
64,987,810 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01908:Kif13b
|
APN |
14 |
64,995,007 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02388:Kif13b
|
APN |
14 |
65,037,807 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02573:Kif13b
|
APN |
14 |
65,040,880 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02661:Kif13b
|
APN |
14 |
65,005,140 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02794:Kif13b
|
APN |
14 |
65,040,889 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02959:Kif13b
|
APN |
14 |
65,005,166 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02979:Kif13b
|
APN |
14 |
65,027,146 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03114:Kif13b
|
APN |
14 |
65,025,897 (GRCm39) |
missense |
probably benign |
0.00 |
R0024:Kif13b
|
UTSW |
14 |
64,987,722 (GRCm39) |
missense |
probably benign |
0.30 |
R0330:Kif13b
|
UTSW |
14 |
65,040,669 (GRCm39) |
missense |
probably benign |
|
R0376:Kif13b
|
UTSW |
14 |
64,994,853 (GRCm39) |
splice site |
probably benign |
|
R0571:Kif13b
|
UTSW |
14 |
64,988,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Kif13b
|
UTSW |
14 |
64,989,111 (GRCm39) |
splice site |
probably benign |
|
R1144:Kif13b
|
UTSW |
14 |
64,951,566 (GRCm39) |
missense |
probably benign |
0.01 |
R1183:Kif13b
|
UTSW |
14 |
65,019,826 (GRCm39) |
missense |
probably benign |
0.00 |
R1264:Kif13b
|
UTSW |
14 |
65,013,681 (GRCm39) |
splice site |
probably benign |
|
R1497:Kif13b
|
UTSW |
14 |
64,973,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R1579:Kif13b
|
UTSW |
14 |
65,019,790 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1624:Kif13b
|
UTSW |
14 |
64,976,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R1706:Kif13b
|
UTSW |
14 |
64,998,115 (GRCm39) |
splice site |
probably benign |
|
R2176:Kif13b
|
UTSW |
14 |
64,907,120 (GRCm39) |
missense |
probably benign |
0.01 |
R3727:Kif13b
|
UTSW |
14 |
65,003,197 (GRCm39) |
splice site |
probably benign |
|
R3785:Kif13b
|
UTSW |
14 |
65,037,849 (GRCm39) |
missense |
probably benign |
0.00 |
R3786:Kif13b
|
UTSW |
14 |
65,037,849 (GRCm39) |
missense |
probably benign |
0.00 |
R4088:Kif13b
|
UTSW |
14 |
65,004,904 (GRCm39) |
critical splice donor site |
probably null |
|
R4279:Kif13b
|
UTSW |
14 |
65,016,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Kif13b
|
UTSW |
14 |
65,043,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R4689:Kif13b
|
UTSW |
14 |
65,010,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R4692:Kif13b
|
UTSW |
14 |
65,041,024 (GRCm39) |
missense |
probably benign |
0.05 |
R4878:Kif13b
|
UTSW |
14 |
65,043,603 (GRCm39) |
missense |
probably benign |
0.00 |
R4971:Kif13b
|
UTSW |
14 |
64,995,011 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5119:Kif13b
|
UTSW |
14 |
64,994,902 (GRCm39) |
missense |
probably benign |
0.01 |
R5167:Kif13b
|
UTSW |
14 |
65,010,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Kif13b
|
UTSW |
14 |
65,017,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5437:Kif13b
|
UTSW |
14 |
65,043,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R5756:Kif13b
|
UTSW |
14 |
64,973,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Kif13b
|
UTSW |
14 |
64,975,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Kif13b
|
UTSW |
14 |
65,025,854 (GRCm39) |
splice site |
probably null |
|
R6120:Kif13b
|
UTSW |
14 |
64,989,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R6150:Kif13b
|
UTSW |
14 |
64,989,088 (GRCm39) |
missense |
probably damaging |
0.99 |
R6165:Kif13b
|
UTSW |
14 |
64,979,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Kif13b
|
UTSW |
14 |
64,973,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Kif13b
|
UTSW |
14 |
64,976,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Kif13b
|
UTSW |
14 |
64,976,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Kif13b
|
UTSW |
14 |
65,005,068 (GRCm39) |
missense |
probably benign |
0.26 |
R6479:Kif13b
|
UTSW |
14 |
64,988,974 (GRCm39) |
missense |
probably benign |
0.08 |
R6512:Kif13b
|
UTSW |
14 |
64,982,323 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6851:Kif13b
|
UTSW |
14 |
65,010,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Kif13b
|
UTSW |
14 |
65,010,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7217:Kif13b
|
UTSW |
14 |
65,010,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Kif13b
|
UTSW |
14 |
64,994,972 (GRCm39) |
missense |
probably null |
0.02 |
R7427:Kif13b
|
UTSW |
14 |
65,025,909 (GRCm39) |
missense |
probably benign |
|
R7428:Kif13b
|
UTSW |
14 |
65,025,909 (GRCm39) |
missense |
probably benign |
|
R7573:Kif13b
|
UTSW |
14 |
65,041,107 (GRCm39) |
missense |
probably benign |
0.00 |
R7629:Kif13b
|
UTSW |
14 |
65,016,784 (GRCm39) |
nonsense |
probably null |
|
R7683:Kif13b
|
UTSW |
14 |
64,994,956 (GRCm39) |
missense |
probably benign |
0.24 |
R7835:Kif13b
|
UTSW |
14 |
65,004,901 (GRCm39) |
missense |
probably benign |
0.00 |
R7895:Kif13b
|
UTSW |
14 |
64,973,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8285:Kif13b
|
UTSW |
14 |
65,019,825 (GRCm39) |
missense |
probably benign |
0.03 |
R8374:Kif13b
|
UTSW |
14 |
65,025,884 (GRCm39) |
missense |
probably damaging |
0.97 |
R8467:Kif13b
|
UTSW |
14 |
64,996,154 (GRCm39) |
missense |
probably damaging |
0.96 |
R8804:Kif13b
|
UTSW |
14 |
64,987,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R8859:Kif13b
|
UTSW |
14 |
64,979,882 (GRCm39) |
missense |
probably benign |
0.04 |
R8891:Kif13b
|
UTSW |
14 |
64,982,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R9236:Kif13b
|
UTSW |
14 |
64,982,383 (GRCm39) |
missense |
probably benign |
0.22 |
R9446:Kif13b
|
UTSW |
14 |
64,984,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Kif13b
|
UTSW |
14 |
65,013,759 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1176:Kif13b
|
UTSW |
14 |
65,040,793 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGTGTTCACATCGCAGTTAATG -3'
(R):5'- CAGATGTACATGCAGACTGAGC -3'
Sequencing Primer
(F):5'- AGTTAATGACCATCTGTCCTCTGAGG -3'
(R):5'- TTGGATGATCCCCAAGTC -3'
|
Posted On |
2016-06-06 |