Incidental Mutation 'R8891:Kif13b'
| ID |
677713 |
| 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 |
068753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
64889633-65047067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64982326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 513
(T513A)
|
| 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: T513A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: T513A
| 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: T513A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,772,520 (GRCm39) |
K570* |
probably null |
Het |
| Abi1 |
T |
C |
2: 22,861,262 (GRCm39) |
I99V |
probably damaging |
Het |
| Abtb3 |
G |
A |
10: 85,223,958 (GRCm39) |
G256R |
unknown |
Het |
| Adgrg7 |
T |
A |
16: 56,572,762 (GRCm39) |
E351D |
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,612,143 (GRCm39) |
K66T |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,162,144 (GRCm39) |
R34W |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,787,813 (GRCm39) |
T1469A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,096,284 (GRCm39) |
I1605V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,822,194 (GRCm39) |
R1708S |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,767,840 (GRCm39) |
E28D |
probably benign |
Het |
| Cldn24 |
A |
T |
8: 48,275,281 (GRCm39) |
N35I |
probably benign |
Het |
| Coa6 |
G |
C |
8: 127,149,570 (GRCm39) |
|
probably null |
Het |
| Copa |
C |
T |
1: 171,946,818 (GRCm39) |
R1009C |
probably damaging |
Het |
| Crybb2 |
G |
A |
5: 113,209,913 (GRCm39) |
T150M |
possibly damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,620,076 (GRCm39) |
T143S |
probably benign |
Het |
| Eid3 |
A |
G |
10: 82,702,992 (GRCm39) |
N151S |
probably damaging |
Het |
| Fbxo17 |
G |
T |
7: 28,434,733 (GRCm39) |
V173L |
possibly damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,415,433 (GRCm39) |
N240S |
probably damaging |
Het |
| Gck |
G |
T |
11: 5,851,733 (GRCm39) |
S445R |
probably damaging |
Het |
| Gm5114 |
C |
A |
7: 39,057,718 (GRCm39) |
V634F |
probably benign |
Het |
| Gnat2 |
G |
A |
3: 108,005,634 (GRCm39) |
D200N |
|
Het |
| H13 |
A |
G |
2: 152,546,049 (GRCm39) |
N390S |
probably benign |
Het |
| Helz |
T |
A |
11: 107,552,842 (GRCm39) |
M1206K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
G |
A |
19: 25,387,439 (GRCm39) |
G371R |
probably benign |
Het |
| L3mbtl4 |
T |
C |
17: 68,762,781 (GRCm39) |
S105P |
possibly damaging |
Het |
| Lpo |
T |
A |
11: 87,697,848 (GRCm39) |
E653V |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,887,435 (GRCm39) |
D3088G |
possibly damaging |
Het |
| Man2b1 |
C |
A |
8: 85,811,084 (GRCm39) |
H72N |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,801 (GRCm39) |
H981Q |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,559,246 (GRCm39) |
I56N |
probably benign |
Het |
| Mul1 |
A |
C |
4: 138,162,164 (GRCm39) |
K32Q |
probably benign |
Het |
| Oas1c |
C |
T |
5: 120,946,126 (GRCm39) |
S124N |
probably benign |
Het |
| Omg |
T |
A |
11: 79,393,829 (GRCm39) |
K10* |
probably null |
Het |
| Or2a52 |
A |
G |
6: 43,144,750 (GRCm39) |
I253V |
probably benign |
Het |
| Or4k52 |
A |
T |
2: 111,611,186 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,407,046 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,692 (GRCm39) |
N599K |
probably damaging |
Het |
| Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
| Phf7 |
C |
A |
14: 30,971,613 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
C |
T |
4: 144,099,397 (GRCm39) |
C456Y |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,604,982 (GRCm39) |
N42S |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,090,136 (GRCm39) |
D716E |
probably benign |
Het |
| Rprd2 |
A |
C |
3: 95,671,367 (GRCm39) |
H1345Q |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,814,768 (GRCm39) |
A668V |
probably damaging |
Het |
| Sag |
T |
A |
1: 87,759,683 (GRCm39) |
L307Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,603,734 (GRCm39) |
P1106L |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,382,409 (GRCm39) |
I615N |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,628,993 (GRCm39) |
V600A |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,263 (GRCm39) |
T264A |
probably benign |
Het |
| Tbx3 |
A |
G |
5: 119,809,983 (GRCm39) |
|
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,783,069 (GRCm39) |
V477A |
possibly damaging |
Het |
| Tle7 |
T |
A |
8: 110,836,763 (GRCm39) |
S216R |
possibly damaging |
Het |
| Ttc17 |
G |
A |
2: 94,192,764 (GRCm39) |
A89V |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,255,657 (GRCm39) |
I39T |
|
Het |
| Zfp184 |
T |
C |
13: 22,143,512 (GRCm39) |
F406S |
probably damaging |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp59 |
T |
A |
7: 27,554,313 (GRCm39) |
D588E |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,797,083 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
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'- TAAGGTGGTCAGAGTTTTGAGAAAC -3'
(R):5'- ACGATGTTCACACTTACAATGACTC -3'
Sequencing Primer
(F):5'- TGGTCAGAGTTTTGAGAAACAGATTG -3'
(R):5'- ACAATGACTCTTCTGTTTCAGAAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation