Incidental Mutation 'R8804:Kif13b'
| ID |
671945 |
| 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 |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64987791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 773
(C773R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100473
AA Change: C773R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: C773R
| 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: C773R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| 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 |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,820 (GRCm39) |
|
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,599,300 (GRCm39) |
F100S |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,899,212 (GRCm39) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,552,652 (GRCm39) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,625,041 (GRCm39) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,389,626 (GRCm39) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,947 (GRCm39) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,008,284 (GRCm39) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,361,296 (GRCm39) |
R22G |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,496,805 (GRCm39) |
I480N |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,624 (GRCm39) |
T401A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,809 (GRCm39) |
N1763S |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,849,320 (GRCm39) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,250,061 (GRCm39) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,442,518 (GRCm39) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,718,610 (GRCm39) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,281,412 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,411,640 (GRCm39) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,356,511 (GRCm39) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,042,756 (GRCm39) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,842,595 (GRCm39) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,339 (GRCm39) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 84,046,150 (GRCm39) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,324,469 (GRCm39) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,435,531 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,893,914 (GRCm39) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,991,694 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,964,507 (GRCm39) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,652 (GRCm39) |
H265Y |
probably damaging |
Het |
| Gykl1 |
A |
G |
18: 52,827,608 (GRCm39) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,139,575 (GRCm39) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,843,581 (GRCm39) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,876 (GRCm39) |
T153P |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,942,198 (GRCm39) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,093,972 (GRCm39) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,251,830 (GRCm39) |
I410K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,874 (GRCm39) |
D220G |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,898 (GRCm39) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 86,993,414 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,635 (GRCm39) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,220,891 (GRCm39) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,853,900 (GRCm39) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,881,908 (GRCm39) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,103,431 (GRCm39) |
N223Y |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,205 (GRCm39) |
V95E |
probably benign |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,708,039 (GRCm39) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,416,584 (GRCm39) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,225 (GRCm39) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,325,273 (GRCm39) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,629,661 (GRCm39) |
G59V |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,150 (GRCm39) |
D161V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,411 (GRCm39) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,763,978 (GRCm39) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,574,243 (GRCm39) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 24,087,245 (GRCm39) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,907,639 (GRCm39) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,655,523 (GRCm39) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,874,506 (GRCm39) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,629 (GRCm39) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,511,900 (GRCm39) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,920 (GRCm39) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm39) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,294,693 (GRCm39) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,032,326 (GRCm39) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,707 (GRCm39) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,648,202 (GRCm39) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,685,882 (GRCm39) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,170,398 (GRCm39) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,142,606 (GRCm39) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,407,270 (GRCm39) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,408,015 (GRCm39) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,675,161 (GRCm39) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,774,144 (GRCm39) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,312,191 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,399 (GRCm39) |
D175G |
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 |
|
|
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 |
|
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'- AACTATCTCAGCTAACTTTGCCTTG -3'
(R):5'- CACTCACTGACAGATGGAAAGG -3'
Sequencing Primer
(F):5'- AGCTAACTTTGCCTTGTTGAC -3'
(R):5'- AGGGGAAATTCTGCTAGAATCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation