Incidental Mutation 'IGL00089:Kif13b'
| ID |
954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif13b
|
| Ensembl Gene |
ENSMUSG00000060012 |
| Gene Name |
kinesin family member 13B |
| Synonyms |
C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 64907142 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 42
(T42I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224126]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100473
AA Change: T42I
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: T42I
| 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 |
possibly damaging
Transcript: ENSMUST00000224503
AA Change: T42I
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231130
|
| Coding Region Coverage |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,854 (GRCm39) |
S580P |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,342,700 (GRCm39) |
I927F |
possibly damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,765 (GRCm39) |
V1168A |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,278,847 (GRCm39) |
N1052K |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,895,373 (GRCm39) |
Q1155K |
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,098,915 (GRCm39) |
|
probably benign |
Het |
| Ahsa2 |
T |
C |
11: 23,446,837 (GRCm39) |
E42G |
probably damaging |
Het |
| Ankk1 |
T |
G |
9: 49,333,200 (GRCm39) |
I95L |
probably benign |
Het |
| Anpep |
A |
T |
7: 79,491,734 (GRCm39) |
L89Q |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,306,083 (GRCm39) |
N83S |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,863,525 (GRCm39) |
|
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,798,841 (GRCm39) |
F849L |
probably benign |
Het |
| BC106179 |
A |
G |
16: 23,043,022 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,608 (GRCm39) |
*129Q |
probably null |
Het |
| C2cd5 |
T |
C |
6: 142,963,671 (GRCm39) |
I888V |
probably null |
Het |
| Calb2 |
A |
T |
8: 110,872,303 (GRCm39) |
L227Q |
probably damaging |
Het |
| Ccp110 |
G |
T |
7: 118,321,647 (GRCm39) |
C434F |
possibly damaging |
Het |
| Cd209c |
A |
T |
8: 3,990,339 (GRCm39) |
C160S |
probably damaging |
Het |
| Chmp1a |
A |
G |
8: 123,935,758 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
T |
A |
9: 105,635,390 (GRCm39) |
|
probably null |
Het |
| Cyld |
T |
A |
8: 89,432,085 (GRCm39) |
C28S |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,908,854 (GRCm39) |
I1156F |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 38,133,454 (GRCm39) |
Y16* |
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,438,982 (GRCm39) |
S1117A |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,955 (GRCm39) |
D203E |
probably damaging |
Het |
| Dhx15 |
G |
T |
5: 52,324,117 (GRCm39) |
L392I |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,823,680 (GRCm39) |
D567G |
probably benign |
Het |
| Eaf1 |
T |
A |
14: 31,226,483 (GRCm39) |
|
probably null |
Het |
| Efnb2 |
T |
C |
8: 8,710,589 (GRCm39) |
D9G |
probably benign |
Het |
| Fcrla |
A |
T |
1: 170,755,067 (GRCm39) |
C15S |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,291,686 (GRCm39) |
N588S |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,945,412 (GRCm39) |
|
probably benign |
Het |
| Gm10146 |
A |
T |
10: 78,229,307 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,653 (GRCm39) |
|
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,741,274 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
A |
C |
1: 125,800,468 (GRCm39) |
R406S |
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,503,504 (GRCm39) |
H31R |
probably damaging |
Het |
| Helz2 |
G |
T |
2: 180,871,495 (GRCm39) |
R2706S |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,127,798 (GRCm39) |
|
probably null |
Het |
| Hnf4g |
A |
G |
3: 3,713,142 (GRCm39) |
T239A |
probably benign |
Het |
| Hps5 |
A |
T |
7: 46,425,362 (GRCm39) |
I413N |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,256,131 (GRCm39) |
G1413R |
probably damaging |
Het |
| Itgax |
T |
G |
7: 127,734,498 (GRCm39) |
M352R |
probably damaging |
Het |
| Katna1 |
T |
A |
10: 7,638,568 (GRCm39) |
M433K |
probably damaging |
Het |
| Kcna4 |
T |
G |
2: 107,126,207 (GRCm39) |
S314A |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,855,945 (GRCm39) |
T622I |
probably benign |
Het |
| Krt86 |
T |
A |
15: 101,374,396 (GRCm39) |
M263K |
possibly damaging |
Het |
| Lap3 |
A |
G |
5: 45,663,511 (GRCm39) |
|
probably benign |
Het |
| Lepr |
A |
T |
4: 101,672,232 (GRCm39) |
R1085S |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,306,769 (GRCm39) |
I314V |
probably benign |
Het |
| Luc7l2 |
T |
C |
6: 38,585,105 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
T |
A |
6: 88,870,383 (GRCm39) |
M117L |
probably benign |
Het |
| Mdh2 |
T |
C |
5: 135,815,138 (GRCm39) |
Y133H |
probably damaging |
Het |
| Minar1 |
C |
T |
9: 89,483,853 (GRCm39) |
V515I |
probably benign |
Het |
| Mlkl |
T |
A |
8: 112,046,060 (GRCm39) |
R317* |
probably null |
Het |
| Mrps34 |
T |
C |
17: 25,114,344 (GRCm39) |
L68P |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,738,764 (GRCm39) |
E1299G |
probably damaging |
Het |
| Nlrp14 |
T |
C |
7: 106,791,709 (GRCm39) |
L139P |
possibly damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,627,413 (GRCm39) |
D86G |
probably damaging |
Het |
| Or10u4 |
T |
A |
10: 129,801,673 (GRCm39) |
R293W |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,110 (GRCm39) |
I100N |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,412 (GRCm39) |
M39L |
probably benign |
Het |
| Patj |
T |
C |
4: 98,353,343 (GRCm39) |
F629L |
probably damaging |
Het |
| Rad23a |
A |
G |
8: 85,562,524 (GRCm39) |
F280L |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,769,558 (GRCm39) |
G811V |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,872,796 (GRCm39) |
D177G |
probably benign |
Het |
| Sult1c2 |
A |
C |
17: 54,140,147 (GRCm39) |
Y159* |
probably null |
Het |
| Surf6 |
T |
A |
2: 26,783,081 (GRCm39) |
|
probably null |
Het |
| Susd6 |
T |
G |
12: 80,916,841 (GRCm39) |
|
probably benign |
Het |
| Sypl2 |
G |
A |
3: 108,133,742 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,984,280 (GRCm39) |
F2289Y |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,037,071 (GRCm39) |
I223T |
probably benign |
Het |
| Vmn1r234 |
C |
T |
17: 21,449,860 (GRCm39) |
T258I |
possibly damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,854 (GRCm39) |
K263M |
possibly damaging |
Het |
| Vmo1 |
A |
T |
11: 70,404,424 (GRCm39) |
N192K |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,312 (GRCm39) |
N440D |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,156,159 (GRCm39) |
Y264H |
unknown |
Het |
| Zfp639 |
T |
G |
3: 32,573,902 (GRCm39) |
|
probably null |
Het |
| Zfp831 |
T |
C |
2: 174,488,078 (GRCm39) |
Y918H |
possibly damaging |
Het |
|
| Other mutations in Kif13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation