Incidental Mutation 'R6120:Kif13b'
ID |
485732 |
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 |
044268-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6120 (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 T
at 64989007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 796
(N796I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
AlphaFold |
A0A286YCV9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082508
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100473
AA Change: N796I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098041 Gene: ENSMUSG00000060012 AA Change: N796I
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: N796I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.3256 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (55/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
Csf1 |
T |
A |
3: 107,661,170 (GRCm39) |
I116L |
probably damaging |
Het |
Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
Entpd2 |
T |
A |
2: 25,289,478 (GRCm39) |
I320N |
probably benign |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,785,608 (GRCm39) |
Y256H |
probably benign |
Het |
Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
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 |
|
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 |
|
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'- AGGTTAGTGCTCTCAGTTGC -3'
(R):5'- ACAACAAGTGTCCTGTCAGTAC -3'
Sequencing Primer
(F):5'- AATGTCATGCAGTGAGACCCAGTC -3'
(R):5'- AAGTGTCCTGTCAGTACCCCTC -3'
|
Posted On |
2017-08-16 |