Incidental Mutation 'R7683:Kif13b'
| ID |
592897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif13b
|
| Ensembl Gene |
ENSMUSG00000060012 |
| Gene Name |
kinesin family member 13B |
| Synonyms |
C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN |
| MMRRC Submission |
045749-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64994956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 903
(V903I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100473
AA Change: V903I
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: V903I
| 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 benign
Transcript: ENSMUST00000224503
AA Change: V903I
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
G |
13: 59,660,312 (GRCm39) |
C305R |
probably damaging |
Het |
| Anpep |
C |
A |
7: 79,488,946 (GRCm39) |
V381L |
probably damaging |
Het |
| Ap5s1 |
T |
C |
2: 131,054,627 (GRCm39) |
L146P |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,629,690 (GRCm39) |
I599V |
probably damaging |
Het |
| Arpc2 |
T |
C |
1: 74,302,973 (GRCm39) |
Y250H |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,246,582 (GRCm39) |
M677K |
probably damaging |
Het |
| Begain |
C |
T |
12: 108,999,413 (GRCm39) |
A453T |
unknown |
Het |
| C1ql4 |
T |
C |
15: 98,985,092 (GRCm39) |
D173G |
probably benign |
Het |
| Card11 |
T |
G |
5: 140,881,781 (GRCm39) |
N461T |
probably benign |
Het |
| Ccdc9 |
T |
C |
7: 16,018,287 (GRCm39) |
D7G |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,463,744 (GRCm39) |
V152A |
probably benign |
Het |
| Chl1 |
G |
A |
6: 103,668,613 (GRCm39) |
A449T |
possibly damaging |
Het |
| Col11a1 |
G |
T |
3: 113,907,385 (GRCm39) |
G638W |
unknown |
Het |
| Cse1l |
A |
T |
2: 166,764,708 (GRCm39) |
T171S |
probably benign |
Het |
| D2hgdh |
T |
A |
1: 93,766,687 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
T |
C |
11: 69,930,680 (GRCm39) |
Y432H |
possibly damaging |
Het |
| Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,702,545 (GRCm39) |
Q251L |
probably damaging |
Het |
| Gtf2f1 |
T |
A |
17: 57,312,458 (GRCm39) |
E195V |
possibly damaging |
Het |
| Hap1 |
A |
T |
11: 100,242,374 (GRCm39) |
L376Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,921,289 (GRCm39) |
I234N |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,535,063 (GRCm39) |
V29A |
probably benign |
Het |
| Hp |
C |
T |
8: 110,305,731 (GRCm39) |
|
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,456,748 (GRCm39) |
S10P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,576,438 (GRCm39) |
V792A |
probably benign |
Het |
| Lars2 |
G |
T |
9: 123,206,895 (GRCm39) |
|
probably null |
Het |
| Med7 |
A |
G |
11: 46,331,687 (GRCm39) |
D94G |
possibly damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,846 (GRCm39) |
T136A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,124,956 (GRCm39) |
E122G |
|
Het |
| Or5h18 |
G |
T |
16: 58,847,469 (GRCm39) |
T267K |
probably benign |
Het |
| Or6k14 |
A |
G |
1: 173,927,042 (GRCm39) |
Q6R |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,821 (GRCm39) |
I489V |
probably benign |
Het |
| Pdcd6ip |
A |
T |
9: 113,516,763 (GRCm39) |
L216Q |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,553,364 (GRCm39) |
C379* |
probably null |
Het |
| Pramel24 |
A |
T |
4: 143,453,284 (GRCm39) |
K131* |
probably null |
Het |
| Ptpn13 |
T |
A |
5: 103,713,018 (GRCm39) |
C1714S |
probably benign |
Het |
| Pum2 |
G |
A |
12: 8,778,922 (GRCm39) |
R498Q |
possibly damaging |
Het |
| Sema3d |
T |
A |
5: 12,623,823 (GRCm39) |
Y577* |
probably null |
Het |
| Slc29a3 |
G |
A |
10: 60,552,145 (GRCm39) |
P300S |
not run |
Het |
| Slc5a4b |
A |
G |
10: 75,899,906 (GRCm39) |
V444A |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,685 (GRCm39) |
E250G |
probably damaging |
Het |
| Srsf7 |
A |
G |
17: 80,514,703 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,523,683 (GRCm39) |
Y239C |
probably damaging |
Het |
| Triml2 |
C |
A |
8: 43,638,325 (GRCm39) |
Q98K |
probably damaging |
Het |
| Txndc11 |
A |
T |
16: 10,902,099 (GRCm39) |
L705Q |
probably damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,404 (GRCm39) |
M191T |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,651 (GRCm39) |
K151N |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,646,125 (GRCm39) |
I498V |
probably damaging |
Het |
| Zfp459 |
T |
C |
13: 67,556,615 (GRCm39) |
H156R |
probably damaging |
Het |
| Zscan18 |
T |
A |
7: 12,503,532 (GRCm39) |
K676* |
probably null |
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 |
|
R5037:Kif13b
|
UTSW |
14 |
64,996,038 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- ACACATGCCTCACATAGCTG -3'
(R):5'- GAACTAACACTCTGGTCTACGAC -3'
Sequencing Primer
(F):5'- TGCCTCACATAGCTGAATGG -3'
(R):5'- TCTGGTCTACGACTAGAAAATACTCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation