Incidental Mutation 'IGL00743:Kif19a'
ID |
11616 |
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 # |
IGL00743
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114675599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 357
(V357A)
|
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: V357A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: V357A
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: ENSMUST00000131782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138340
|
SMART Domains |
Protein: ENSMUSP00000122743 Gene: ENSMUSG00000010021
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000115663 Gene: ENSMUSG00000010021 AA Change: V315A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hps6 |
A |
T |
19: 45,992,099 (GRCm39) |
D12V |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
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 |
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 |
IGL03372:Kif19a
|
APN |
11 |
114,670,044 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2012-12-06 |