Incidental Mutation 'R1497:Kif13b'
| ID |
168995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif13b
|
| Ensembl Gene |
ENSMUSG00000060012 |
| Gene Name |
kinesin family member 13B |
| Synonyms |
N-3 kinesin, C130021D12Rik, 5330429L19Rik, 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 |
64647265-64809617 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64736266 bp (GRCm38)
|
| 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: 109,973,821 (GRCm38) |
|
probably benign |
Het |
| Abhd17a |
A |
G |
10: 80,584,330 (GRCm38) |
|
probably benign |
Het |
| Acacb |
G |
A |
5: 114,196,807 (GRCm38) |
E646K |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,928,311 (GRCm38) |
M262V |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,435,515 (GRCm38) |
|
probably benign |
Het |
| Car5b |
T |
A |
X: 163,988,404 (GRCm38) |
K188N |
probably benign |
Het |
| Caskin1 |
C |
T |
17: 24,504,541 (GRCm38) |
R768* |
probably null |
Het |
| Casp8ap2 |
T |
C |
4: 32,639,938 (GRCm38) |
S331P |
probably benign |
Het |
| Ccdc68 |
C |
T |
18: 69,960,514 (GRCm38) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,842,955 (GRCm38) |
|
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,848,865 (GRCm38) |
S3090G |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,552,058 (GRCm38) |
M1023L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,635,259 (GRCm38) |
F608S |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,978,825 (GRCm38) |
E2531A |
unknown |
Het |
| Ctc1 |
T |
A |
11: 69,022,561 (GRCm38) |
C128S |
probably benign |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,782,022 (GRCm38) |
|
noncoding transcript |
Het |
| Cyp2j6 |
T |
A |
4: 96,531,661 (GRCm38) |
I278F |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,904,113 (GRCm38) |
S723R |
probably damaging |
Het |
| Dhx8 |
A |
G |
11: 101,735,387 (GRCm38) |
|
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,114,233 (GRCm38) |
L775Q |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,752,075 (GRCm38) |
T2701K |
probably damaging |
Het |
| Eml3 |
T |
A |
19: 8,936,369 (GRCm38) |
S424R |
probably damaging |
Het |
| Epm2aip1 |
A |
G |
9: 111,272,247 (GRCm38) |
E96G |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 6,742,708 (GRCm38) |
H314R |
probably benign |
Het |
| Fam193b |
G |
T |
13: 55,554,434 (GRCm38) |
H43Q |
probably damaging |
Het |
| Fam208b |
T |
C |
13: 3,570,409 (GRCm38) |
E2164G |
probably damaging |
Het |
| Fam217a |
T |
A |
13: 34,911,212 (GRCm38) |
N340I |
probably damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,384,802 (GRCm38) |
Q89H |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,219,769 (GRCm38) |
H1996L |
unknown |
Het |
| Gabpb1 |
C |
T |
2: 126,639,249 (GRCm38) |
V327M |
possibly damaging |
Het |
| Gtf3c3 |
A |
G |
1: 54,437,939 (GRCm38) |
V36A |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,548,096 (GRCm38) |
N2739S |
probably damaging |
Het |
| Hyal1 |
A |
G |
9: 107,577,995 (GRCm38) |
|
probably null |
Het |
| Ipo13 |
T |
C |
4: 117,904,659 (GRCm38) |
D448G |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,402,386 (GRCm38) |
D860G |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,314,515 (GRCm38) |
H2199L |
possibly damaging |
Het |
| Magi1 |
A |
G |
6: 93,747,329 (GRCm38) |
F235S |
probably damaging |
Het |
| Maml1 |
A |
C |
11: 50,265,707 (GRCm38) |
M547R |
possibly damaging |
Het |
| Mapk7 |
T |
C |
11: 61,493,863 (GRCm38) |
K6E |
possibly damaging |
Het |
| Mbd5 |
T |
A |
2: 49,257,381 (GRCm38) |
N534K |
possibly damaging |
Het |
| Mcat |
G |
A |
15: 83,549,252 (GRCm38) |
Q34* |
probably null |
Het |
| Mcu |
T |
A |
10: 59,448,848 (GRCm38) |
D180V |
probably damaging |
Het |
| Mettl21c |
G |
T |
1: 44,009,791 (GRCm38) |
P199T |
probably benign |
Het |
| Mndal |
A |
T |
1: 173,872,875 (GRCm38) |
S177T |
probably benign |
Het |
| Mpeg1 |
G |
T |
19: 12,461,247 (GRCm38) |
C23F |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,438,234 (GRCm38) |
Y98F |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,289,812 (GRCm38) |
S625P |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,753,218 (GRCm38) |
|
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,320,372 (GRCm38) |
S95P |
probably benign |
Het |
| Olfr1196 |
T |
C |
2: 88,700,762 (GRCm38) |
D189G |
probably damaging |
Het |
| Olfr378 |
T |
A |
11: 73,425,827 (GRCm38) |
D52V |
possibly damaging |
Het |
| Otop2 |
A |
G |
11: 115,329,849 (GRCm38) |
|
probably null |
Het |
| Pcnx4 |
G |
C |
12: 72,574,400 (GRCm38) |
G998A |
probably benign |
Het |
| Pnkd |
C |
A |
1: 74,351,522 (GRCm38) |
|
probably null |
Het |
| Ppp4r4 |
T |
A |
12: 103,606,945 (GRCm38) |
V701E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,601,841 (GRCm38) |
I3897T |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,332,287 (GRCm38) |
E205G |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,893,575 (GRCm38) |
|
probably benign |
Het |
| Serpinb5 |
A |
T |
1: 106,876,052 (GRCm38) |
Q156L |
probably benign |
Het |
| Setdb1 |
A |
T |
3: 95,327,467 (GRCm38) |
V975D |
probably benign |
Het |
| Shc1 |
A |
G |
3: 89,428,445 (GRCm38) |
*470W |
probably null |
Het |
| Sik3 |
T |
A |
9: 46,202,022 (GRCm38) |
V587E |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,221,089 (GRCm38) |
H1276Q |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,668,861 (GRCm38) |
I384T |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,922,137 (GRCm38) |
V1469D |
probably benign |
Het |
| Tdrd5 |
A |
T |
1: 156,255,802 (GRCm38) |
N888K |
probably benign |
Het |
| Tex22 |
T |
C |
12: 113,075,380 (GRCm38) |
S34P |
probably benign |
Het |
| Tmed6 |
T |
C |
8: 107,064,122 (GRCm38) |
T98A |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,484,619 (GRCm38) |
P141L |
probably benign |
Het |
| Trpa1 |
T |
C |
1: 14,885,812 (GRCm38) |
I778V |
probably benign |
Het |
| Urb2 |
T |
A |
8: 124,028,077 (GRCm38) |
H174Q |
probably damaging |
Het |
| Usb1 |
T |
C |
8: 95,338,697 (GRCm38) |
V59A |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,137,409 (GRCm38) |
N19K |
probably damaging |
Het |
| Vmn1r185 |
A |
T |
7: 26,611,794 (GRCm38) |
F95L |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,620,990 (GRCm38) |
V16M |
probably benign |
Het |
| Vmn2r92 |
T |
C |
17: 18,167,363 (GRCm38) |
V210A |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 54,672,501 (GRCm38) |
I448K |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 127,343,561 (GRCm38) |
Q465L |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,771,105 (GRCm38) |
N617Y |
probably damaging |
Het |
|
| Other mutations in Kif13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Kif13b
|
APN |
14 |
64,669,693 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL00485:Kif13b
|
APN |
14 |
64,765,073 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL00495:Kif13b
|
APN |
14 |
64,714,113 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL00556:Kif13b
|
APN |
14 |
64,744,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00571:Kif13b
|
APN |
14 |
64,746,417 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00590:Kif13b
|
APN |
14 |
64,779,462 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01650:Kif13b
|
APN |
14 |
64,765,145 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01730:Kif13b
|
APN |
14 |
64,750,361 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01908:Kif13b
|
APN |
14 |
64,757,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02388:Kif13b
|
APN |
14 |
64,800,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02573:Kif13b
|
APN |
14 |
64,803,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02661:Kif13b
|
APN |
14 |
64,767,691 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02794:Kif13b
|
APN |
14 |
64,803,440 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02959:Kif13b
|
APN |
14 |
64,767,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02979:Kif13b
|
APN |
14 |
64,789,697 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03114:Kif13b
|
APN |
14 |
64,788,448 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0024:Kif13b
|
UTSW |
14 |
64,750,273 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0330:Kif13b
|
UTSW |
14 |
64,803,220 (GRCm38) |
missense |
probably benign |
|
|
R0376:Kif13b
|
UTSW |
14 |
64,757,404 (GRCm38) |
splice site |
probably benign |
|
|
R0571:Kif13b
|
UTSW |
14 |
64,751,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0718:Kif13b
|
UTSW |
14 |
64,751,662 (GRCm38) |
splice site |
probably benign |
|
|
R1144:Kif13b
|
UTSW |
14 |
64,714,117 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1183:Kif13b
|
UTSW |
14 |
64,782,377 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1264:Kif13b
|
UTSW |
14 |
64,776,232 (GRCm38) |
splice site |
probably benign |
|
|
R1579:Kif13b
|
UTSW |
14 |
64,782,341 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1624:Kif13b
|
UTSW |
14 |
64,738,619 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1706:Kif13b
|
UTSW |
14 |
64,760,666 (GRCm38) |
splice site |
probably benign |
|
|
R2176:Kif13b
|
UTSW |
14 |
64,669,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3727:Kif13b
|
UTSW |
14 |
64,765,748 (GRCm38) |
splice site |
probably benign |
|
|
R3785:Kif13b
|
UTSW |
14 |
64,800,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3786:Kif13b
|
UTSW |
14 |
64,800,400 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4088:Kif13b
|
UTSW |
14 |
64,767,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4279:Kif13b
|
UTSW |
14 |
64,779,356 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4559:Kif13b
|
UTSW |
14 |
64,806,132 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4689:Kif13b
|
UTSW |
14 |
64,773,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4692:Kif13b
|
UTSW |
14 |
64,803,575 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4878:Kif13b
|
UTSW |
14 |
64,806,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4971:Kif13b
|
UTSW |
14 |
64,757,562 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5037:Kif13b
|
UTSW |
14 |
64,758,589 (GRCm38) |
nonsense |
probably null |
|
|
R5119:Kif13b
|
UTSW |
14 |
64,757,453 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5167:Kif13b
|
UTSW |
14 |
64,772,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5408:Kif13b
|
UTSW |
14 |
64,779,689 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5437:Kif13b
|
UTSW |
14 |
64,806,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5756:Kif13b
|
UTSW |
14 |
64,736,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5838:Kif13b
|
UTSW |
14 |
64,737,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5891:Kif13b
|
UTSW |
14 |
64,788,405 (GRCm38) |
splice site |
probably null |
|
|
R6120:Kif13b
|
UTSW |
14 |
64,751,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6150:Kif13b
|
UTSW |
14 |
64,751,639 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6165:Kif13b
|
UTSW |
14 |
64,742,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6187:Kif13b
|
UTSW |
14 |
64,736,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6229:Kif13b
|
UTSW |
14 |
64,738,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6267:Kif13b
|
UTSW |
14 |
64,738,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6347:Kif13b
|
UTSW |
14 |
64,767,619 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6479:Kif13b
|
UTSW |
14 |
64,751,525 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6512:Kif13b
|
UTSW |
14 |
64,744,874 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6851:Kif13b
|
UTSW |
14 |
64,773,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7131:Kif13b
|
UTSW |
14 |
64,773,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7217:Kif13b
|
UTSW |
14 |
64,773,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7398:Kif13b
|
UTSW |
14 |
64,757,523 (GRCm38) |
missense |
probably null |
0.02 |
|
R7427:Kif13b
|
UTSW |
14 |
64,788,460 (GRCm38) |
missense |
probably benign |
|
|
R7428:Kif13b
|
UTSW |
14 |
64,788,460 (GRCm38) |
missense |
probably benign |
|
|
R7573:Kif13b
|
UTSW |
14 |
64,803,658 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7629:Kif13b
|
UTSW |
14 |
64,779,335 (GRCm38) |
nonsense |
probably null |
|
|
R7683:Kif13b
|
UTSW |
14 |
64,757,507 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7835:Kif13b
|
UTSW |
14 |
64,767,452 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7895:Kif13b
|
UTSW |
14 |
64,736,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8285:Kif13b
|
UTSW |
14 |
64,782,376 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8374:Kif13b
|
UTSW |
14 |
64,788,435 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8467:Kif13b
|
UTSW |
14 |
64,758,705 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8804:Kif13b
|
UTSW |
14 |
64,750,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8859:Kif13b
|
UTSW |
14 |
64,742,433 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8891:Kif13b
|
UTSW |
14 |
64,744,877 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9236:Kif13b
|
UTSW |
14 |
64,744,934 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9446:Kif13b
|
UTSW |
14 |
64,747,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9589:Kif13b
|
UTSW |
14 |
64,776,310 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
Z1176:Kif13b
|
UTSW |
14 |
64,803,344 (GRCm38) |
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