Incidental Mutation 'R1183:Kif13b'
| ID |
101810 |
| 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 |
039255-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1183 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65019826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1398
(H1398Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100473
AA Change: H1398Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: H1398Q
| 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: ENSMUST00000224503
AA Change: H1398Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
G |
8: 111,768,206 (GRCm39) |
Y192* |
probably null |
Het |
| Abcc6 |
T |
C |
7: 45,634,677 (GRCm39) |
Y1100C |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,974,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,416 (GRCm39) |
V497E |
probably damaging |
Het |
| Adtrp |
T |
G |
13: 41,981,813 (GRCm39) |
|
probably benign |
Het |
| Alg9 |
T |
A |
9: 50,700,833 (GRCm39) |
L201Q |
possibly damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,856,121 (GRCm39) |
I84K |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,725 (GRCm39) |
S288P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,949,452 (GRCm39) |
L366Q |
possibly damaging |
Het |
| Cacna1a |
A |
G |
8: 85,306,846 (GRCm39) |
D1367G |
probably damaging |
Het |
| Card19 |
C |
T |
13: 49,358,727 (GRCm39) |
R82Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,292,372 (GRCm39) |
I226V |
possibly damaging |
Het |
| Ces1f |
A |
C |
8: 93,994,633 (GRCm39) |
D259E |
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,416,611 (GRCm39) |
M1072K |
probably benign |
Het |
| Dcpp2 |
T |
A |
17: 24,119,468 (GRCm39) |
V94D |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,337,474 (GRCm39) |
D3209G |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,416,255 (GRCm39) |
T719A |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,375,716 (GRCm39) |
W1167* |
probably null |
Het |
| Eml5 |
T |
C |
12: 98,758,305 (GRCm39) |
I1874V |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,003,926 (GRCm39) |
T645A |
probably damaging |
Het |
| F2rl2 |
T |
C |
13: 95,837,621 (GRCm39) |
L222S |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,191,731 (GRCm39) |
C495S |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,163,537 (GRCm39) |
D2106E |
probably benign |
Het |
| Fgf14 |
T |
A |
14: 124,913,936 (GRCm39) |
N65I |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,755,763 (GRCm39) |
Y497H |
probably damaging |
Het |
| Fn1 |
A |
C |
1: 71,625,404 (GRCm39) |
D2376E |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,764,662 (GRCm39) |
T453A |
possibly damaging |
Het |
| Galnt1 |
G |
T |
18: 24,404,647 (GRCm39) |
W328L |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,372 (GRCm39) |
V97A |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,693,707 (GRCm39) |
V154A |
possibly damaging |
Het |
| Gdf15 |
A |
G |
8: 71,084,202 (GRCm39) |
F21L |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,029,182 (GRCm39) |
F273S |
possibly damaging |
Het |
| Invs |
A |
T |
4: 48,421,725 (GRCm39) |
R786W |
possibly damaging |
Het |
| Itfg1 |
T |
G |
8: 86,507,152 (GRCm39) |
E236A |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,137,194 (GRCm39) |
I752F |
probably damaging |
Het |
| Kcnip3 |
C |
A |
2: 127,306,985 (GRCm39) |
G144W |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,109,598 (GRCm39) |
H925R |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,107,511 (GRCm39) |
A1011T |
probably damaging |
Het |
| Lrp4 |
A |
T |
2: 91,307,864 (GRCm39) |
|
probably null |
Het |
| Lrtm2 |
T |
C |
6: 119,297,846 (GRCm39) |
D65G |
probably benign |
Het |
| Lyz1 |
A |
G |
10: 117,128,715 (GRCm39) |
L10P |
probably damaging |
Het |
| Metap2 |
A |
T |
10: 93,706,046 (GRCm39) |
N245K |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,943,270 (GRCm39) |
D297G |
possibly damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,573 (GRCm39) |
D340G |
possibly damaging |
Het |
| Mtfr1l |
A |
G |
4: 134,256,436 (GRCm39) |
L243P |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,842,897 (GRCm39) |
I105T |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,748,571 (GRCm39) |
S1967P |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,100,585 (GRCm39) |
N2248S |
possibly damaging |
Het |
| Nfatc2 |
T |
C |
2: 168,432,008 (GRCm39) |
D35G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,067,252 (GRCm39) |
M764K |
probably benign |
Het |
| Or10a3n |
A |
G |
7: 108,492,948 (GRCm39) |
L222P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,529,256 (GRCm39) |
S1753G |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,939,179 (GRCm39) |
V2070I |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,219,824 (GRCm39) |
V961A |
probably damaging |
Het |
| Pofut1 |
C |
T |
2: 153,103,158 (GRCm39) |
S169L |
probably benign |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,335 (GRCm39) |
S542T |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Ptges3l |
T |
C |
11: 101,312,731 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,647 (GRCm39) |
L71F |
probably benign |
Het |
| Ramp3 |
A |
G |
11: 6,624,867 (GRCm39) |
K54E |
possibly damaging |
Het |
| Rbpms |
C |
A |
8: 34,294,100 (GRCm39) |
Q214H |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
A |
9: 37,319,348 (GRCm39) |
D565E |
probably damaging |
Het |
| S100a1 |
C |
T |
3: 90,418,641 (GRCm39) |
V58I |
probably benign |
Het |
| Setx |
T |
A |
2: 29,070,104 (GRCm39) |
D2636E |
probably benign |
Het |
| Sun2 |
A |
T |
15: 79,612,669 (GRCm39) |
V417E |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,660,519 (GRCm39) |
N99S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,064,893 (GRCm39) |
D1441G |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,896 (GRCm39) |
M627K |
probably damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,628 (GRCm39) |
Y395C |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,759,398 (GRCm39) |
Y1129H |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,275,813 (GRCm39) |
R470S |
probably damaging |
Het |
| Tsg101 |
G |
T |
7: 46,539,372 (GRCm39) |
D389E |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,406 (GRCm39) |
L46P |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,997,419 (GRCm39) |
I1745V |
possibly damaging |
Het |
| Usp20 |
T |
C |
2: 30,901,797 (GRCm39) |
Y521H |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,543,019 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,491 (GRCm39) |
E504D |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,086,867 (GRCm39) |
I612F |
probably benign |
Het |
| Zbtb8a |
T |
C |
4: 129,251,520 (GRCm39) |
H317R |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,315 (GRCm39) |
S243G |
probably damaging |
Het |
| Zfp764 |
A |
G |
7: 127,005,419 (GRCm39) |
W73R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,632 (GRCm39) |
D90E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAGTGGTTTTCACATCCCAG -3'
(R):5'- AAGGGTGTTAGTGGACCTCAACGG -3'
Sequencing Primer
(F):5'- tctgactgggaaacaggataac -3'
(R):5'- GACCTCAACGGCAGGATCAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation