Incidental Mutation 'R9554:Kif15'
| ID |
720667 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 122828585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 902
(L902F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040717
AA Change: L902F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: L902F
| 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 damaging
Transcript: ENSMUST00000214652
AA Change: L674F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,107 (GRCm39) |
E817G |
probably benign |
Het |
| Abhd12b |
A |
G |
12: 70,215,988 (GRCm39) |
T182A |
probably benign |
Het |
| Allc |
A |
T |
12: 28,607,414 (GRCm39) |
C279* |
probably null |
Het |
| Ang |
A |
G |
14: 51,338,976 (GRCm39) |
D39G |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,360,197 (GRCm39) |
T958M |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,784,900 (GRCm39) |
R191K |
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,750 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,668,169 (GRCm39) |
S321R |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,251,015 (GRCm39) |
W616R |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,657,165 (GRCm39) |
R361H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,201,691 (GRCm39) |
Q38R |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,507,560 (GRCm39) |
N785S |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,122,076 (GRCm39) |
N1133S |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,645,614 (GRCm39) |
Y877* |
probably null |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Fam120b |
G |
A |
17: 15,626,020 (GRCm39) |
A458T |
possibly damaging |
Het |
| Fgd4 |
G |
A |
16: 16,308,353 (GRCm39) |
T9I |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,038,915 (GRCm39) |
R108L |
probably damaging |
Het |
| Gfpt1 |
C |
T |
6: 87,062,323 (GRCm39) |
R561W |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,340 (GRCm39) |
D4G |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,882,470 (GRCm39) |
T108S |
probably damaging |
Het |
| Hivep1 |
G |
A |
13: 42,308,251 (GRCm39) |
D164N |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,497 (GRCm39) |
R4481S |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,332,310 (GRCm39) |
V1209A |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,376,838 (GRCm39) |
R377H |
probably benign |
Het |
| Ms4a4a |
G |
A |
19: 11,367,708 (GRCm39) |
M191I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,018,580 (GRCm39) |
N1922I |
|
Het |
| Nbeal1 |
C |
T |
1: 60,290,287 (GRCm39) |
Q998* |
probably null |
Het |
| Neil3 |
C |
A |
8: 54,061,770 (GRCm39) |
G204C |
probably damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,066,994 (GRCm39) |
E262G |
possibly damaging |
Het |
| Oc90 |
G |
A |
15: 65,761,437 (GRCm39) |
P194S |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,193,787 (GRCm39) |
S57P |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,181 (GRCm39) |
F123L |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,223 (GRCm39) |
Y96* |
probably null |
Het |
| Or2aj4 |
T |
A |
16: 19,384,722 (GRCm39) |
I304F |
possibly damaging |
Het |
| Or4a73 |
C |
A |
2: 89,420,710 (GRCm39) |
V250F |
probably damaging |
Het |
| Or4d5 |
T |
A |
9: 40,012,160 (GRCm39) |
M209L |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,774 (GRCm39) |
I199N |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,994,365 (GRCm39) |
T13A |
probably benign |
Het |
| Or8g28 |
A |
C |
9: 39,169,756 (GRCm39) |
F71V |
possibly damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,333,574 (GRCm39) |
L149Q |
probably damaging |
Het |
| Pid1 |
A |
G |
1: 84,137,032 (GRCm39) |
V33A |
probably benign |
Het |
| Polr3gl |
A |
G |
3: 96,489,037 (GRCm39) |
V60A |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,317,242 (GRCm39) |
V527A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,671 (GRCm39) |
I385M |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,599 (GRCm39) |
S1338N |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,006 (GRCm39) |
T389A |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Slx4 |
C |
A |
16: 3,805,820 (GRCm39) |
M577I |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,577 (GRCm39) |
S2092P |
probably damaging |
Het |
| Traf6 |
T |
A |
2: 101,518,953 (GRCm39) |
H147Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,547,693 (GRCm39) |
E32159V |
possibly damaging |
Het |
| Ubn1 |
T |
C |
16: 4,888,492 (GRCm39) |
S154P |
unknown |
Het |
| Uchl1 |
T |
A |
5: 66,833,649 (GRCm39) |
M6K |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,989 (GRCm39) |
M1K |
probably null |
Het |
| Zfp429 |
T |
A |
13: 67,538,531 (GRCm39) |
K304N |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,464 (GRCm39) |
S307T |
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 |
|
|
R9001:Kif15
|
UTSW |
9 |
122,826,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CAGGATTCCTACGATAACTTACAAG -3'
(R):5'- AGTGCTATATCACTGAGTTAACCC -3'
Sequencing Primer
(F):5'- CTGCATGTAAGTGATTAACAGTGTTG -3'
(R):5'- AGTGCACAGTGGAGCCCTATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation