Incidental Mutation 'R2176:Kif13b'
ID |
236904 |
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 |
040178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2176 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64907120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 35
(V35I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224126]
[ENSMUST00000224503]
|
AlphaFold |
A0A286YCV9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100473
AA Change: V35I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000098041 Gene: ENSMUSG00000060012 AA Change: V35I
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: ENSMUST00000224126
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224503
AA Change: V35I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231130
|
Meta Mutation Damage Score |
0.0621 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
A |
5: 121,657,649 (GRCm39) |
Y548F |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,127,614 (GRCm39) |
L83P |
probably damaging |
Het |
BC051665 |
A |
T |
13: 60,932,344 (GRCm39) |
|
probably benign |
Het |
Casp3 |
A |
G |
8: 47,082,791 (GRCm39) |
N3S |
probably damaging |
Het |
Ccdc174 |
G |
A |
6: 91,865,070 (GRCm39) |
M109I |
probably benign |
Het |
Ccr6 |
T |
A |
17: 8,475,073 (GRCm39) |
F93I |
probably damaging |
Het |
Clvs2 |
T |
C |
10: 33,471,811 (GRCm39) |
S165G |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,320,941 (GRCm39) |
V171A |
probably benign |
Het |
Dennd5a |
C |
A |
7: 109,504,327 (GRCm39) |
|
probably null |
Het |
Dock2 |
T |
A |
11: 34,586,044 (GRCm39) |
Y546F |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,158,401 (GRCm39) |
|
probably null |
Het |
Focad |
T |
A |
4: 88,197,481 (GRCm39) |
Y625N |
unknown |
Het |
Fyb1 |
A |
G |
15: 6,609,435 (GRCm39) |
K3E |
probably damaging |
Het |
Gm14496 |
G |
A |
2: 181,633,130 (GRCm39) |
D38N |
probably benign |
Het |
Gm20403 |
T |
C |
12: 55,033,155 (GRCm39) |
T54A |
probably benign |
Het |
Gm9830 |
A |
G |
9: 44,375,556 (GRCm39) |
|
noncoding transcript |
Het |
Hectd1 |
A |
T |
12: 51,792,277 (GRCm39) |
S2487R |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,233 (GRCm39) |
L175S |
probably benign |
Het |
Inhca |
A |
G |
9: 103,136,566 (GRCm39) |
|
probably benign |
Het |
Itgav |
C |
T |
2: 83,633,599 (GRCm39) |
R983C |
probably damaging |
Het |
Kcna10 |
T |
C |
3: 107,102,032 (GRCm39) |
V221A |
probably damaging |
Het |
Kif6 |
G |
A |
17: 50,062,258 (GRCm39) |
E473K |
probably damaging |
Het |
Mfsd14a |
T |
C |
3: 116,426,042 (GRCm39) |
T452A |
probably benign |
Het |
Mllt1 |
A |
G |
17: 57,204,398 (GRCm39) |
S382P |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,757,398 (GRCm39) |
W1083R |
probably damaging |
Het |
Nell2 |
T |
C |
15: 95,333,038 (GRCm39) |
I174V |
probably damaging |
Het |
Noct |
G |
A |
3: 51,157,117 (GRCm39) |
|
probably null |
Het |
Nvl |
A |
T |
1: 180,962,639 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,250,595 (GRCm39) |
S574G |
probably benign |
Het |
Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
Or11h4 |
T |
C |
14: 50,973,681 (GRCm39) |
M313V |
probably benign |
Het |
Or4a75 |
A |
T |
2: 89,447,924 (GRCm39) |
M204K |
possibly damaging |
Het |
Pip5k1a |
A |
T |
3: 94,972,807 (GRCm39) |
S415T |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,623,741 (GRCm39) |
P785S |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,339,733 (GRCm39) |
Y1048C |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,570,720 (GRCm39) |
V337E |
probably benign |
Het |
Prkg2 |
T |
C |
5: 99,114,368 (GRCm39) |
|
probably benign |
Het |
Prl7a2 |
T |
G |
13: 27,843,089 (GRCm39) |
Y238S |
probably benign |
Het |
Psg28 |
T |
A |
7: 18,161,804 (GRCm39) |
D233V |
probably damaging |
Het |
Rad50 |
A |
G |
11: 53,589,036 (GRCm39) |
C221R |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,887,254 (GRCm39) |
|
probably benign |
Het |
Rgsl1 |
T |
A |
1: 153,701,014 (GRCm39) |
|
probably benign |
Het |
Ror1 |
C |
A |
4: 100,299,071 (GRCm39) |
R815S |
probably damaging |
Het |
Rrp1b |
C |
A |
17: 32,275,534 (GRCm39) |
D360E |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,496,680 (GRCm39) |
Q3682R |
possibly damaging |
Het |
Sdr42e1 |
A |
T |
8: 118,389,616 (GRCm39) |
F342I |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,128,114 (GRCm39) |
R1337G |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,140 (GRCm39) |
V36A |
probably damaging |
Het |
Slc4a5 |
G |
A |
6: 83,239,542 (GRCm39) |
G152D |
probably damaging |
Het |
Sptbn4 |
T |
G |
7: 27,063,587 (GRCm39) |
M2280L |
probably benign |
Het |
Syngr2 |
T |
C |
11: 117,703,406 (GRCm39) |
I74T |
probably damaging |
Het |
Tm9sf1 |
T |
C |
14: 55,878,866 (GRCm39) |
I175M |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,258,516 (GRCm39) |
E502G |
probably damaging |
Het |
Tph1 |
T |
A |
7: 46,311,463 (GRCm39) |
D88V |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,295,691 (GRCm39) |
K979E |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,691,934 (GRCm39) |
T799A |
probably benign |
Het |
Utf1 |
A |
G |
7: 139,523,920 (GRCm39) |
E45G |
possibly damaging |
Het |
Vmn1r208 |
A |
T |
13: 22,956,772 (GRCm39) |
C242S |
probably damaging |
Het |
Wrnip1 |
T |
C |
13: 33,004,223 (GRCm39) |
I498T |
probably damaging |
Het |
Ypel2 |
T |
A |
11: 86,862,699 (GRCm39) |
H18L |
probably benign |
Het |
Zan |
T |
G |
5: 137,420,110 (GRCm39) |
D2849A |
unknown |
Het |
Zfp647 |
A |
T |
15: 76,795,860 (GRCm39) |
F267I |
probably damaging |
Het |
Zfp786 |
G |
T |
6: 47,797,905 (GRCm39) |
H344Q |
possibly damaging |
Het |
Zswim3 |
G |
T |
2: 164,662,614 (GRCm39) |
A365S |
probably benign |
Het |
Zswim5 |
T |
C |
4: 116,830,238 (GRCm39) |
W538R |
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 |
|
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'- CCTGCTGTGAACCTTTGCTC -3'
(R):5'- TGACATCCCTCACTCATTGTCA -3'
Sequencing Primer
(F):5'- CTTTTCAGTACACAAGGTGGAACCG -3'
(R):5'- ACTCATTGTCAGCCTGGGAAC -3'
|
Posted On |
2014-10-02 |