Incidental Mutation 'R6479:Kif13b'
| ID |
516999 |
| 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 |
044611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6479 (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 G
at 64988974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 785
(K785R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100473]
[ENSMUST00000224503]
|
| AlphaFold |
A0A286YCV9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082508
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100473
AA Change: K785R
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: K785R
| 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: K785R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.0%
|
| Validation Efficiency |
95% (55/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
C |
8: 25,119,681 (GRCm39) |
S533A |
probably benign |
Het |
| Akap6 |
T |
G |
12: 53,187,952 (GRCm39) |
S1789A |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,236,011 (GRCm39) |
S519P |
probably damaging |
Het |
| Anapc2 |
A |
G |
2: 25,175,407 (GRCm39) |
K816E |
probably benign |
Het |
| Atp6v1a |
T |
C |
16: 43,919,121 (GRCm39) |
D488G |
probably benign |
Het |
| Banp |
A |
G |
8: 122,718,176 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
A |
G |
2: 25,825,874 (GRCm39) |
C1367R |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,021,535 (GRCm39) |
H539Q |
probably damaging |
Het |
| Ccl5 |
A |
G |
11: 83,421,212 (GRCm39) |
Y26H |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,723,898 (GRCm39) |
S86R |
probably benign |
Het |
| Cts7 |
A |
G |
13: 61,503,455 (GRCm39) |
S170P |
probably benign |
Het |
| Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
| Dennd1b |
C |
T |
1: 138,969,698 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
T |
C |
12: 104,662,982 (GRCm39) |
D1533G |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,878,954 (GRCm39) |
E1531G |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,811,612 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gm10309 |
A |
T |
17: 86,812,007 (GRCm39) |
M1K |
probably null |
Het |
| Gm4884 |
A |
T |
7: 40,690,211 (GRCm39) |
N36Y |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,553,053 (GRCm39) |
R2546* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,315,480 (GRCm39) |
D3743G |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,354,157 (GRCm39) |
E114V |
possibly damaging |
Het |
| Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
| Jarid2 |
G |
A |
13: 45,001,765 (GRCm39) |
G26D |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,413 (GRCm39) |
I20F |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,690,373 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,317,429 (GRCm39) |
T851I |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,248,353 (GRCm39) |
|
probably benign |
Het |
| Megf10 |
T |
C |
18: 57,379,642 (GRCm39) |
F273L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,700,700 (GRCm39) |
D73E |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,560,385 (GRCm39) |
F640L |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,635,457 (GRCm39) |
S2448P |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,467,877 (GRCm39) |
V377A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,750,086 (GRCm39) |
V183A |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,752 (GRCm39) |
R755H |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,110,207 (GRCm39) |
T275A |
probably benign |
Het |
| Or52n4 |
A |
G |
7: 104,294,333 (GRCm39) |
I80T |
probably benign |
Het |
| Osgepl1 |
T |
C |
1: 53,360,702 (GRCm39) |
V381A |
probably benign |
Het |
| Pcdha1 |
C |
T |
18: 37,064,509 (GRCm39) |
T391I |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,327 (GRCm39) |
N328S |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,740,147 (GRCm39) |
E340G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,651,931 (GRCm39) |
T387A |
probably benign |
Het |
| Plxnb1 |
C |
A |
9: 108,940,733 (GRCm39) |
T1536K |
possibly damaging |
Het |
| Rbp7 |
T |
C |
4: 149,534,347 (GRCm39) |
T130A |
probably benign |
Het |
| Rhot2 |
A |
T |
17: 26,060,054 (GRCm39) |
V309E |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,557,964 (GRCm39) |
I421M |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,389,331 (GRCm39) |
L585H |
probably damaging |
Het |
| Spint4 |
C |
A |
2: 164,542,764 (GRCm39) |
A119D |
probably benign |
Het |
| Strip2 |
G |
T |
6: 29,944,496 (GRCm39) |
|
probably null |
Het |
| Stxbp4 |
T |
C |
11: 90,510,013 (GRCm39) |
Y59C |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,181,679 (GRCm39) |
Q4219* |
probably null |
Het |
| Syne1 |
A |
T |
10: 5,406,826 (GRCm39) |
I37N |
probably damaging |
Het |
| Syne4 |
G |
T |
7: 30,016,340 (GRCm39) |
G179* |
probably null |
Het |
| Tead1 |
T |
C |
7: 112,460,672 (GRCm39) |
V192A |
probably benign |
Het |
| Trim37 |
G |
T |
11: 87,107,313 (GRCm39) |
E317* |
probably null |
Het |
| Wdfy3 |
A |
C |
5: 102,061,045 (GRCm39) |
Y1390D |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,342,931 (GRCm39) |
F779L |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,096,511 (GRCm39) |
G306D |
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 |
|
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'- TAGTGCTCTCAGTTGCTGC -3'
(R):5'- CAAGTGTCCTGTCAGTACCC -3'
Sequencing Primer
(F):5'- CTCTGTGAATTGAAGACAGCTG -3'
(R):5'- GTCCTGTCAGTACCCCTCACTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation