Incidental Mutation 'IGL03372:Kif19a'
| ID |
420344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif19a
|
| Ensembl Gene |
ENSMUSG00000010021 |
| Gene Name |
kinesin family member 19A |
| Synonyms |
N-8 kinesin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
IGL03372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114670044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 80
(V80L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084368]
[ENSMUST00000138804]
|
| AlphaFold |
Q99PT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084368
AA Change: V80L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: V80L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
354 |
4.53e-150 |
SMART |
|
coiled coil region
|
361 |
388 |
N/A |
INTRINSIC |
|
coiled coil region
|
431 |
449 |
N/A |
INTRINSIC |
|
coiled coil region
|
506 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
807 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138804
AA Change: V80L
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: V80L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
312 |
2.99e-118 |
SMART |
|
coiled coil region
|
319 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
389 |
407 |
N/A |
INTRINSIC |
|
coiled coil region
|
464 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
692 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 129,911,362 (GRCm39) |
A1161V |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,350 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
T |
2: 153,242,333 (GRCm39) |
N961I |
probably damaging |
Het |
| Bcl2l10 |
A |
G |
9: 75,255,329 (GRCm39) |
I49V |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,962,578 (GRCm39) |
|
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,597 (GRCm39) |
M54V |
probably benign |
Het |
| Cep72 |
A |
C |
13: 74,191,637 (GRCm39) |
L200V |
possibly damaging |
Het |
| Clic4 |
T |
C |
4: 134,945,925 (GRCm39) |
D164G |
probably damaging |
Het |
| Col5a3 |
G |
A |
9: 20,686,624 (GRCm39) |
P1334S |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,459,030 (GRCm39) |
L293P |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,479,109 (GRCm39) |
S140T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,052,833 (GRCm39) |
M2897K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,952,666 (GRCm39) |
E721G |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,218,109 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,943,283 (GRCm39) |
K725N |
possibly damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,909 (GRCm39) |
I308V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,432,674 (GRCm39) |
|
probably benign |
Het |
| Gm10109 |
A |
T |
7: 43,871,126 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,245,519 (GRCm39) |
V405I |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,356,077 (GRCm39) |
|
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,691 (GRCm39) |
I63T |
possibly damaging |
Het |
| Kcmf1 |
A |
C |
6: 72,826,546 (GRCm39) |
L161R |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,774 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,840,783 (GRCm39) |
I575N |
possibly damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,077 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
A |
T |
3: 40,978,962 (GRCm39) |
H6L |
possibly damaging |
Het |
| Map4k2 |
T |
A |
19: 6,392,279 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,759,154 (GRCm39) |
H146R |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,631,813 (GRCm39) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 123,170,113 (GRCm39) |
|
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,131,654 (GRCm39) |
S514N |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,378,641 (GRCm39) |
I1610K |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,584,473 (GRCm39) |
L2095P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,588 (GRCm39) |
N115S |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,577 (GRCm39) |
Y218H |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,812,519 (GRCm39) |
I276R |
possibly damaging |
Het |
| P2rx6 |
G |
A |
16: 17,385,356 (GRCm39) |
E150K |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,150,996 (GRCm39) |
L771Q |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,806,976 (GRCm39) |
N1087K |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,453,713 (GRCm39) |
R31L |
probably benign |
Het |
| Proser3 |
A |
C |
7: 30,242,993 (GRCm39) |
S195A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,586,121 (GRCm39) |
K292E |
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,438,781 (GRCm39) |
R394H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,314 (GRCm39) |
I649T |
probably damaging |
Het |
| Skint3 |
G |
A |
4: 112,113,103 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,304,285 (GRCm39) |
L576Q |
probably damaging |
Het |
| Snx2 |
A |
G |
18: 53,349,463 (GRCm39) |
D408G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,069 (GRCm39) |
V203A |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,936,459 (GRCm39) |
V1530M |
probably damaging |
Het |
| Tsc2 |
A |
C |
17: 24,838,444 (GRCm39) |
L515R |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,108,353 (GRCm39) |
M500K |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,496 (GRCm39) |
D76G |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,336,855 (GRCm39) |
D127G |
probably damaging |
Het |
|
| Other mutations in Kif19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Kif19a
|
APN |
11 |
114,670,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00743:Kif19a
|
APN |
11 |
114,675,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00763:Kif19a
|
APN |
11 |
114,657,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01327:Kif19a
|
APN |
11 |
114,672,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Kif19a
|
APN |
11 |
114,680,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02481:Kif19a
|
APN |
11 |
114,679,979 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02496:Kif19a
|
APN |
11 |
114,670,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02735:Kif19a
|
APN |
11 |
114,676,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Kif19a
|
APN |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Kif19a
|
APN |
11 |
114,676,396 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4520001:Kif19a
|
UTSW |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Kif19a
|
UTSW |
11 |
114,675,736 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0383:Kif19a
|
UTSW |
11 |
114,656,340 (GRCm39) |
start codon destroyed |
possibly damaging |
0.63 |
|
R0850:Kif19a
|
UTSW |
11 |
114,671,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1343:Kif19a
|
UTSW |
11 |
114,676,653 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1422:Kif19a
|
UTSW |
11 |
114,676,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1547:Kif19a
|
UTSW |
11 |
114,677,398 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1591:Kif19a
|
UTSW |
11 |
114,680,057 (GRCm39) |
missense |
probably benign |
|
|
R2148:Kif19a
|
UTSW |
11 |
114,671,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Kif19a
|
UTSW |
11 |
114,681,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3814:Kif19a
|
UTSW |
11 |
114,672,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3944:Kif19a
|
UTSW |
11 |
114,677,561 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4631:Kif19a
|
UTSW |
11 |
114,675,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4866:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4867:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5022:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5072:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5073:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5074:Kif19a
|
UTSW |
11 |
114,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Kif19a
|
UTSW |
11 |
114,673,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Kif19a
|
UTSW |
11 |
114,670,041 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5646:Kif19a
|
UTSW |
11 |
114,670,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Kif19a
|
UTSW |
11 |
114,670,049 (GRCm39) |
nonsense |
probably null |
|
|
R5890:Kif19a
|
UTSW |
11 |
114,680,264 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6344:Kif19a
|
UTSW |
11 |
114,672,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6522:Kif19a
|
UTSW |
11 |
114,676,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6570:Kif19a
|
UTSW |
11 |
114,675,731 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6879:Kif19a
|
UTSW |
11 |
114,672,159 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7028:Kif19a
|
UTSW |
11 |
114,672,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Kif19a
|
UTSW |
11 |
114,656,281 (GRCm39) |
start gained |
probably benign |
|
|
R7492:Kif19a
|
UTSW |
11 |
114,681,065 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7782:Kif19a
|
UTSW |
11 |
114,672,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Kif19a
|
UTSW |
11 |
114,678,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Kif19a
|
UTSW |
11 |
114,675,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Kif19a
|
UTSW |
11 |
114,680,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9596:Kif19a
|
UTSW |
11 |
114,676,752 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Kif19a
|
UTSW |
11 |
114,680,655 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1176:Kif19a
|
UTSW |
11 |
114,677,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kif19a
|
UTSW |
11 |
114,675,730 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Kif19a
|
UTSW |
11 |
114,672,141 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2016-08-02 |
Incidental Mutation