Incidental Mutation 'R9001:Kif15'
| ID |
684977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif15
|
| Ensembl Gene |
ENSMUSG00000036768 |
| Gene Name |
kinesin family member 15 |
| Synonyms |
N-10 kinesin, 3930402I10Rik, 3110023M17Rik, HKLP2, Knsl7 |
| MMRRC Submission |
068832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122826855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 798
(C798G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: C798G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: C798G
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
24 |
371 |
2.86e-179 |
SMART |
|
Pfam:Kinesin-relat_1
|
463 |
551 |
6.6e-26 |
PFAM |
|
coiled coil region
|
579 |
643 |
N/A |
INTRINSIC |
|
coiled coil region
|
706 |
1037 |
N/A |
INTRINSIC |
|
coiled coil region
|
1065 |
1133 |
N/A |
INTRINSIC |
|
Pfam:HMMR_C
|
1265 |
1387 |
3.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214652
AA Change: C570G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
T |
C |
12: 110,637,176 (GRCm39) |
R26G |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,462 (GRCm39) |
N439S |
probably damaging |
Het |
| Arfgef3 |
C |
T |
10: 18,522,476 (GRCm39) |
E517K |
probably benign |
Het |
| Arhgap29 |
A |
T |
3: 121,775,523 (GRCm39) |
I89L |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,122,296 (GRCm39) |
V149I |
possibly damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,534 (GRCm39) |
H362L |
probably benign |
Het |
| Cmtm2a |
A |
G |
8: 105,019,376 (GRCm39) |
V71A |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,944,370 (GRCm39) |
I1035F |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,079 (GRCm39) |
V1279A |
|
Het |
| Csmd3 |
A |
T |
15: 47,596,901 (GRCm39) |
V1068E |
|
Het |
| Ddx50 |
T |
C |
10: 62,475,728 (GRCm39) |
Y331C |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,916,623 (GRCm39) |
Y631H |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,515 (GRCm39) |
G1915S |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,436,374 (GRCm39) |
*2463W |
probably null |
Het |
| Dst |
G |
T |
1: 34,213,292 (GRCm39) |
V1395F |
possibly damaging |
Het |
| Dzip1l |
T |
C |
9: 99,523,907 (GRCm39) |
|
probably null |
Het |
| Eef1akmt3 |
T |
C |
10: 126,877,232 (GRCm39) |
E11G |
probably benign |
Het |
| Elfn2 |
A |
G |
15: 78,557,438 (GRCm39) |
F370L |
probably benign |
Het |
| Enam |
T |
A |
5: 88,637,388 (GRCm39) |
F104Y |
probably benign |
Het |
| Esd |
A |
G |
14: 74,983,123 (GRCm39) |
E258G |
probably benign |
Het |
| Fam181b |
G |
A |
7: 92,730,356 (GRCm39) |
A377T |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,282,008 (GRCm39) |
I454M |
probably benign |
Het |
| Ggt5 |
T |
A |
10: 75,445,992 (GRCm39) |
V462D |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,178 (GRCm39) |
S67G |
unknown |
Het |
| Grn |
A |
T |
11: 102,327,497 (GRCm39) |
Y286F |
|
Het |
| Gulp1 |
A |
G |
1: 44,827,709 (GRCm39) |
I284V |
probably benign |
Het |
| Ilf2 |
A |
G |
3: 90,390,108 (GRCm39) |
N140S |
probably benign |
Het |
| Ints4 |
C |
A |
7: 97,190,276 (GRCm39) |
P925Q |
possibly damaging |
Het |
| Khdc1b |
A |
G |
1: 21,454,560 (GRCm39) |
N88D |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,910,409 (GRCm39) |
V285E |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,641,860 (GRCm39) |
S59G |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,299,999 (GRCm39) |
M333T |
probably benign |
Het |
| Mrm3 |
A |
G |
11: 76,141,234 (GRCm39) |
D414G |
probably benign |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mtpap |
A |
G |
18: 4,380,831 (GRCm39) |
N170D |
probably benign |
Het |
| Nelfb |
C |
A |
2: 25,096,287 (GRCm39) |
R274L |
probably damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,447 (GRCm39) |
V261G |
probably damaging |
Het |
| Pkm |
A |
G |
9: 59,572,626 (GRCm39) |
N44S |
probably benign |
Het |
| Rel |
T |
C |
11: 23,698,855 (GRCm39) |
D144G |
probably damaging |
Het |
| Scgb2b21 |
A |
T |
7: 33,218,956 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
A |
13: 33,277,743 (GRCm39) |
D325E |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,748,956 (GRCm39) |
C654R |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,798 (GRCm39) |
K143R |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,529 (GRCm39) |
H2034Y |
unknown |
Het |
| Thbs2 |
T |
C |
17: 14,889,007 (GRCm39) |
D1164G |
probably damaging |
Het |
| Tnfrsf10b |
T |
C |
14: 70,015,250 (GRCm39) |
S243P |
possibly damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,410 (GRCm39) |
S2408T |
probably benign |
Het |
| Topors |
A |
T |
4: 40,261,696 (GRCm39) |
D529E |
possibly damaging |
Het |
| Trmt5 |
T |
C |
12: 73,331,643 (GRCm39) |
M138V |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,104,104 (GRCm39) |
I242M |
possibly damaging |
Het |
| Zfp523 |
A |
G |
17: 28,408,915 (GRCm39) |
Q21R |
possibly damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,856 (GRCm39) |
N344K |
probably damaging |
Het |
|
| Other mutations in Kif15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01459:Kif15
|
APN |
9 |
122,804,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Kif15
|
APN |
9 |
122,825,399 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01647:Kif15
|
APN |
9 |
122,792,536 (GRCm39) |
intron |
probably benign |
|
|
IGL01921:Kif15
|
APN |
9 |
122,808,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Kif15
|
APN |
9 |
122,846,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02191:Kif15
|
APN |
9 |
122,804,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Kif15
|
APN |
9 |
122,824,892 (GRCm39) |
splice site |
probably benign |
|
|
IGL02537:Kif15
|
APN |
9 |
122,822,914 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02814:Kif15
|
APN |
9 |
122,832,705 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4480001:Kif15
|
UTSW |
9 |
122,840,608 (GRCm39) |
missense |
probably benign |
|
|
R0034:Kif15
|
UTSW |
9 |
122,828,350 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0458:Kif15
|
UTSW |
9 |
122,838,424 (GRCm39) |
missense |
probably benign |
|
|
R0526:Kif15
|
UTSW |
9 |
122,826,862 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0533:Kif15
|
UTSW |
9 |
122,838,498 (GRCm39) |
unclassified |
probably benign |
|
|
R0726:Kif15
|
UTSW |
9 |
122,788,993 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1580:Kif15
|
UTSW |
9 |
122,789,021 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1597:Kif15
|
UTSW |
9 |
122,823,074 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2096:Kif15
|
UTSW |
9 |
122,815,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3125:Kif15
|
UTSW |
9 |
122,817,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3176:Kif15
|
UTSW |
9 |
122,816,905 (GRCm39) |
splice site |
probably benign |
|
|
R4088:Kif15
|
UTSW |
9 |
122,815,254 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4308:Kif15
|
UTSW |
9 |
122,843,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4597:Kif15
|
UTSW |
9 |
122,822,914 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4705:Kif15
|
UTSW |
9 |
122,789,058 (GRCm39) |
splice site |
probably null |
|
|
R4832:Kif15
|
UTSW |
9 |
122,831,191 (GRCm39) |
splice site |
probably null |
|
|
R5100:Kif15
|
UTSW |
9 |
122,821,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5126:Kif15
|
UTSW |
9 |
122,804,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Kif15
|
UTSW |
9 |
122,828,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5247:Kif15
|
UTSW |
9 |
122,815,507 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5376:Kif15
|
UTSW |
9 |
122,823,036 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5392:Kif15
|
UTSW |
9 |
122,825,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5422:Kif15
|
UTSW |
9 |
122,813,954 (GRCm39) |
splice site |
probably null |
|
|
R5562:Kif15
|
UTSW |
9 |
122,807,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Kif15
|
UTSW |
9 |
122,820,916 (GRCm39) |
splice site |
probably null |
|
|
R5767:Kif15
|
UTSW |
9 |
122,843,039 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5927:Kif15
|
UTSW |
9 |
122,846,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Kif15
|
UTSW |
9 |
122,840,687 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6435:Kif15
|
UTSW |
9 |
122,815,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7040:Kif15
|
UTSW |
9 |
122,840,679 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7158:Kif15
|
UTSW |
9 |
122,828,379 (GRCm39) |
missense |
probably benign |
|
|
R7163:Kif15
|
UTSW |
9 |
122,846,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Kif15
|
UTSW |
9 |
122,838,991 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7318:Kif15
|
UTSW |
9 |
122,817,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Kif15
|
UTSW |
9 |
122,820,202 (GRCm39) |
missense |
probably benign |
|
|
R8039:Kif15
|
UTSW |
9 |
122,836,490 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8228:Kif15
|
UTSW |
9 |
122,821,041 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8549:Kif15
|
UTSW |
9 |
122,815,236 (GRCm39) |
missense |
probably benign |
|
|
R9031:Kif15
|
UTSW |
9 |
122,846,492 (GRCm39) |
intron |
probably benign |
|
|
R9044:Kif15
|
UTSW |
9 |
122,840,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9063:Kif15
|
UTSW |
9 |
122,833,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Kif15
|
UTSW |
9 |
122,807,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9490:Kif15
|
UTSW |
9 |
122,788,203 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9554:Kif15
|
UTSW |
9 |
122,828,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Kif15
|
UTSW |
9 |
122,815,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9752:Kif15
|
UTSW |
9 |
122,824,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Kif15
|
UTSW |
9 |
122,780,116 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAACCAGGACCTAAGGAG -3'
(R):5'- CAGTGTACTTGATGGCTTATGCAATG -3'
Sequencing Primer
(F):5'- CAACCAGGACCTAAGGAGAGGAG -3'
(R):5'- TGAAGCAAGCATCTTTAGCCATCAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation