Incidental Mutation 'R1497:Kif13b'
| ID |
168995 |
| 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 |
039548-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64973715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 355
(N355S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100473
AA Change: N355S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: N355S
| 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 damaging
Transcript: ENSMUST00000224503
AA Change: N355S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6090 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,864,647 (GRCm39) |
|
probably benign |
Het |
| Abhd17a |
A |
G |
10: 80,420,164 (GRCm39) |
|
probably benign |
Het |
| Acacb |
G |
A |
5: 114,334,868 (GRCm39) |
E646K |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,916,743 (GRCm39) |
M262V |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,573,578 (GRCm39) |
|
probably benign |
Het |
| Car5b |
T |
A |
X: 162,771,400 (GRCm39) |
K188N |
probably benign |
Het |
| Caskin1 |
C |
T |
17: 24,723,515 (GRCm39) |
R768* |
probably null |
Het |
| Casp8ap2 |
T |
C |
4: 32,639,938 (GRCm39) |
S331P |
probably benign |
Het |
| Ccdc68 |
C |
T |
18: 70,093,585 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,673,300 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,726,064 (GRCm39) |
S3090G |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,479,788 (GRCm39) |
M1023L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,453,123 (GRCm39) |
F608S |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,807,893 (GRCm39) |
E2531A |
unknown |
Het |
| Ctc1 |
T |
A |
11: 68,913,387 (GRCm39) |
C128S |
probably benign |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,666,223 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp2j6 |
T |
A |
4: 96,419,898 (GRCm39) |
I278F |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,908,924 (GRCm39) |
S723R |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,626,213 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,005,059 (GRCm39) |
L775Q |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,971,049 (GRCm39) |
T2701K |
probably damaging |
Het |
| Eml3 |
T |
A |
19: 8,913,733 (GRCm39) |
S424R |
probably damaging |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,315 (GRCm39) |
E96G |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 7,010,107 (GRCm39) |
H314R |
probably benign |
Het |
| Fam193b |
G |
T |
13: 55,702,247 (GRCm39) |
H43Q |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 35,095,195 (GRCm39) |
N340I |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,292,109 (GRCm39) |
Q89H |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,127,076 (GRCm39) |
H1996L |
unknown |
Het |
| Gabpb1 |
C |
T |
2: 126,481,169 (GRCm39) |
V327M |
possibly damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,477,098 (GRCm39) |
V36A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,275,407 (GRCm39) |
N2739S |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,455,194 (GRCm39) |
|
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,761,856 (GRCm39) |
D448G |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,472,610 (GRCm39) |
D860G |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,519,513 (GRCm39) |
H2199L |
possibly damaging |
Het |
| Magi1 |
A |
G |
6: 93,724,310 (GRCm39) |
F235S |
probably damaging |
Het |
| Maml1 |
A |
C |
11: 50,156,534 (GRCm39) |
M547R |
possibly damaging |
Het |
| Mapk7 |
T |
C |
11: 61,384,689 (GRCm39) |
K6E |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,147,393 (GRCm39) |
N534K |
possibly damaging |
Het |
| Mcat |
G |
A |
15: 83,433,453 (GRCm39) |
Q34* |
probably null |
Het |
| Mcu |
T |
A |
10: 59,284,670 (GRCm39) |
D180V |
probably damaging |
Het |
| Mettl21c |
G |
T |
1: 44,048,951 (GRCm39) |
P199T |
probably benign |
Het |
| Mndal |
A |
T |
1: 173,700,441 (GRCm39) |
S177T |
probably benign |
Het |
| Mpeg1 |
G |
T |
19: 12,438,611 (GRCm39) |
C23F |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,471 (GRCm39) |
Y98F |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,180,638 (GRCm39) |
S625P |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,830,282 (GRCm39) |
|
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,797 (GRCm39) |
S95P |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,653 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or4a66 |
T |
C |
2: 88,531,106 (GRCm39) |
D189G |
probably damaging |
Het |
| Otop2 |
A |
G |
11: 115,220,675 (GRCm39) |
|
probably null |
Het |
| Pcnx4 |
G |
C |
12: 72,621,174 (GRCm39) |
G998A |
probably benign |
Het |
| Pnkd |
C |
A |
1: 74,390,681 (GRCm39) |
|
probably null |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,204 (GRCm39) |
V701E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,616,727 (GRCm39) |
I3897T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,784,401 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,803,782 (GRCm39) |
Q156L |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,234,778 (GRCm39) |
V975D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,335,752 (GRCm39) |
*470W |
probably null |
Het |
| Sik3 |
T |
A |
9: 46,113,320 (GRCm39) |
V587E |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,635,120 (GRCm39) |
I384T |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,812,963 (GRCm39) |
V1469D |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,620,409 (GRCm39) |
E2164G |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,083,372 (GRCm39) |
N888K |
probably benign |
Het |
| Tex22 |
T |
C |
12: 113,039,000 (GRCm39) |
S34P |
probably benign |
Het |
| Tmed6 |
T |
C |
8: 107,790,754 (GRCm39) |
T98A |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,083,826 (GRCm39) |
P141L |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,956,036 (GRCm39) |
I778V |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,754,816 (GRCm39) |
H174Q |
probably damaging |
Het |
| Usb1 |
T |
C |
8: 96,065,325 (GRCm39) |
V59A |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,394 (GRCm39) |
N19K |
probably damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,219 (GRCm39) |
F95L |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,805,160 (GRCm39) |
V16M |
probably benign |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,625 (GRCm39) |
V210A |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,942,733 (GRCm39) |
Q465L |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,105 (GRCm39) |
N617Y |
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 |
|
|
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 |
|
|
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'- GGTCTGCATGTGAACCCCTATTTTGTC -3'
(R):5'- CACATTCTAGTCTGTCAGCGGTCTC -3'
Sequencing Primer
(F):5'- TGAACCCCTATTTTGTCTTAAATGTG -3'
(R):5'- TCAGCGGTCTCGACAAAAATG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation