Incidental Mutation 'R7573:Kif13b'
| ID |
586183 |
| 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 |
045659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65041107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1732
(I1732V)
|
| 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: I1732V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: I1732V
| 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: I1736V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,366,917 (GRCm39) |
I49F |
|
Het |
| 1810055G02Rik |
T |
A |
19: 3,765,728 (GRCm39) |
M1K |
probably null |
Het |
| Abcb1b |
G |
A |
5: 8,878,866 (GRCm39) |
C750Y |
possibly damaging |
Het |
| Abi2 |
T |
A |
1: 60,509,867 (GRCm39) |
V412D |
probably benign |
Het |
| Alk |
C |
T |
17: 72,207,787 (GRCm39) |
V983M |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,953 (GRCm39) |
W266R |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,434,918 (GRCm39) |
R188G |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,478,008 (GRCm39) |
D695V |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,648,718 (GRCm39) |
I28L |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,068,914 (GRCm39) |
D536G |
|
Het |
| Cacna1c |
A |
G |
6: 118,581,406 (GRCm39) |
S1733P |
|
Het |
| Cacna1e |
T |
C |
1: 154,601,911 (GRCm39) |
|
probably benign |
Het |
| Capns1 |
A |
G |
7: 29,891,960 (GRCm39) |
F101L |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,922,015 (GRCm39) |
T1030A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,159,329 (GRCm39) |
T2151A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,953,220 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Cfap157 |
T |
C |
2: 32,667,520 (GRCm39) |
H521R |
probably benign |
Het |
| Crygs |
T |
A |
16: 22,624,069 (GRCm39) |
*179C |
probably null |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,830,836 (GRCm39) |
T1686A |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,748,382 (GRCm39) |
V95A |
probably benign |
Het |
| Cxcl3 |
A |
G |
5: 90,934,105 (GRCm39) |
T26A |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,016,041 (GRCm39) |
V400A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,107,104 (GRCm39) |
N1139I |
possibly damaging |
Het |
| Fam136a |
G |
A |
6: 86,343,667 (GRCm39) |
E55K |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,600,502 (GRCm39) |
D179G |
probably damaging |
Het |
| Fam178b |
T |
C |
1: 36,671,533 (GRCm39) |
D196G |
probably damaging |
Het |
| Fut9 |
A |
T |
4: 25,620,691 (GRCm39) |
M41K |
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,694,122 (GRCm39) |
Q1531R |
probably null |
Het |
| Gpr6 |
A |
T |
10: 40,946,868 (GRCm39) |
V238D |
probably damaging |
Het |
| Hoxa2 |
A |
T |
6: 52,140,283 (GRCm39) |
S234R |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,103,337 (GRCm39) |
T143A |
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,723,382 (GRCm39) |
S693P |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,785,211 (GRCm39) |
V72A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,722,954 (GRCm39) |
D348V |
probably benign |
Het |
| Map4k2 |
A |
T |
19: 6,394,094 (GRCm39) |
E300D |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,138,679 (GRCm39) |
|
probably null |
Het |
| Mpo |
A |
G |
11: 87,688,403 (GRCm39) |
D354G |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,847,778 (GRCm39) |
T174A |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,172,450 (GRCm39) |
C1183Y |
probably damaging |
Het |
| Nfkb2 |
C |
A |
19: 46,297,082 (GRCm39) |
Q336K |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,320,468 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
T |
C |
7: 19,753,125 (GRCm39) |
L10P |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,377,232 (GRCm39) |
S53G |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,072,912 (GRCm39) |
M120I |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,277 (GRCm39) |
I151T |
probably benign |
Het |
| Or52a5b |
A |
G |
7: 103,416,677 (GRCm39) |
M309T |
probably benign |
Het |
| Or52z13 |
C |
T |
7: 103,246,735 (GRCm39) |
L71F |
probably benign |
Het |
| Or8b54 |
A |
T |
9: 38,686,791 (GRCm39) |
K80I |
probably damaging |
Het |
| Or8g18 |
C |
T |
9: 39,148,977 (GRCm39) |
V248I |
probably benign |
Het |
| Pak5 |
A |
G |
2: 135,958,225 (GRCm39) |
S288P |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,487,809 (GRCm39) |
F234L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,358,658 (GRCm39) |
N616D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,506,852 (GRCm39) |
R9C |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,213,272 (GRCm39) |
C154R |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,014,579 (GRCm39) |
W1243R |
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,765,974 (GRCm39) |
A385T |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,310 (GRCm39) |
C3804R |
|
Het |
| Ros1 |
T |
A |
10: 52,046,072 (GRCm39) |
T153S |
probably benign |
Het |
| Sema4g |
T |
C |
19: 44,986,010 (GRCm39) |
S284P |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,090,571 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,574,569 (GRCm39) |
S236G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,398,256 (GRCm39) |
F674L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,849,585 (GRCm39) |
K361N |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,929,052 (GRCm39) |
L88S |
unknown |
Het |
| Smarca4 |
T |
A |
9: 21,550,371 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,735,240 (GRCm39) |
N198K |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,141,234 (GRCm39) |
Q1166* |
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,854 (GRCm39) |
N212S |
possibly damaging |
Het |
| Tbx2 |
C |
G |
11: 85,724,138 (GRCm39) |
A69G |
possibly damaging |
Het |
| Tmc1 |
C |
A |
19: 20,884,372 (GRCm39) |
D23Y |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,135,455 (GRCm39) |
D940E |
probably benign |
Het |
| Trim27 |
T |
A |
13: 21,364,770 (GRCm39) |
C36S |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,560,696 (GRCm39) |
G808D |
probably damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,094 (GRCm39) |
Y279* |
probably null |
Het |
| Usp40 |
G |
A |
1: 87,913,794 (GRCm39) |
A433V |
probably benign |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,843 (GRCm39) |
A53V |
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,787 (GRCm39) |
N302S |
probably benign |
Het |
| Wfdc2 |
A |
T |
2: 164,407,741 (GRCm39) |
I137L |
probably benign |
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 |
|
|
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'- AGAGCTTAAGTCCTTCACAGGC -3'
(R):5'- TTATGAAGGGTCAGGAGGCTC -3'
Sequencing Primer
(F):5'- TAAGTCCTTCACAGGCATGCTGG -3'
(R):5'- TCAAGGAGTCTGATGCGCTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation