Incidental Mutation 'R5890:Kif19a'
ID |
457111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif19a
|
Ensembl Gene |
ENSMUSG00000010021 |
Gene Name |
kinesin family member 19A |
Synonyms |
N-8 kinesin |
MMRRC Submission |
044091-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R5890 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114680264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 867
(W867L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000206]
[ENSMUST00000084368]
[ENSMUST00000138804]
|
AlphaFold |
Q99PT9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000206
|
SMART Domains |
Protein: ENSMUSP00000000206 Gene: ENSMUSG00000000202
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
BTB
|
63 |
162 |
2.01e-11 |
SMART |
BACK
|
169 |
269 |
8.58e-19 |
SMART |
Blast:BACK
|
425 |
460 |
1e-14 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084368
AA Change: W867L
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: W867L
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 |
noncoding transcript
Transcript: ENSMUST00000137965
|
Predicted Effect |
unknown
Transcript: ENSMUST00000138340
AA Change: W138L
|
SMART Domains |
Protein: ENSMUSP00000122743 Gene: ENSMUSG00000010021 AA Change: W138L
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141386
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156192
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138804
|
SMART Domains |
Protein: ENSMUSP00000115663 Gene: ENSMUSG00000010021
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,550,554 (GRCm39) |
|
probably null |
Het |
Acsm3 |
C |
A |
7: 119,374,457 (GRCm39) |
T303N |
probably benign |
Het |
Adamts13 |
A |
T |
2: 26,876,603 (GRCm39) |
R506W |
probably damaging |
Het |
Adck5 |
C |
T |
15: 76,477,785 (GRCm39) |
T166M |
probably damaging |
Het |
Adcy8 |
T |
A |
15: 64,687,266 (GRCm39) |
I413F |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,564,811 (GRCm39) |
D252E |
probably damaging |
Het |
Aldh16a1 |
T |
A |
7: 44,793,969 (GRCm39) |
T636S |
probably benign |
Het |
Ampd1 |
C |
A |
3: 102,997,391 (GRCm39) |
F264L |
probably damaging |
Het |
Arhgap17 |
T |
C |
7: 122,885,981 (GRCm39) |
|
probably benign |
Het |
Babam2 |
A |
G |
5: 32,222,151 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
C |
T |
11: 78,164,096 (GRCm39) |
Q40* |
probably null |
Het |
Bod1l |
T |
A |
5: 41,977,921 (GRCm39) |
E1131V |
probably benign |
Het |
Cbs |
C |
T |
17: 31,832,193 (GRCm39) |
V553M |
probably damaging |
Het |
Cd72 |
T |
C |
4: 43,454,475 (GRCm39) |
K18R |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,128,587 (GRCm39) |
Y580C |
probably damaging |
Het |
Chrnb1 |
T |
A |
11: 69,683,555 (GRCm39) |
I264F |
possibly damaging |
Het |
Cntf |
A |
G |
19: 12,741,357 (GRCm39) |
W168R |
probably damaging |
Het |
Cxxc1 |
T |
A |
18: 74,354,237 (GRCm39) |
D648E |
possibly damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,700,936 (GRCm39) |
L294Q |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,605,414 (GRCm39) |
S532P |
probably damaging |
Het |
Defb3 |
G |
A |
8: 19,345,200 (GRCm39) |
C52Y |
probably damaging |
Het |
Dennd5a |
T |
G |
7: 109,533,428 (GRCm39) |
E114A |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,428,039 (GRCm39) |
F222L |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,905,820 (GRCm39) |
|
probably null |
Het |
Fras1 |
A |
T |
5: 96,793,807 (GRCm39) |
H1043L |
probably benign |
Het |
Gamt |
C |
A |
10: 80,095,741 (GRCm39) |
R63L |
possibly damaging |
Het |
Gm1527 |
A |
G |
3: 28,969,544 (GRCm39) |
H298R |
probably benign |
Het |
Gphb5 |
C |
T |
12: 75,462,596 (GRCm39) |
|
probably null |
Het |
Greb1 |
A |
T |
12: 16,783,422 (GRCm39) |
V104D |
possibly damaging |
Het |
Hck |
A |
G |
2: 152,970,996 (GRCm39) |
D86G |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,833,958 (GRCm39) |
K321* |
probably null |
Het |
Kcna5 |
C |
T |
6: 126,511,699 (GRCm39) |
R143H |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,303 (GRCm39) |
A376V |
probably damaging |
Het |
Mars1 |
A |
T |
10: 127,133,914 (GRCm39) |
M661K |
probably benign |
Het |
Mecp2 |
C |
T |
X: 73,079,043 (GRCm39) |
V496M |
probably damaging |
Het |
Mfsd2b |
A |
T |
12: 4,917,651 (GRCm39) |
C132S |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,966,666 (GRCm39) |
Y356C |
probably damaging |
Het |
Mif4gd |
G |
T |
11: 115,500,188 (GRCm39) |
A89E |
probably benign |
Het |
Mkln1 |
A |
T |
6: 31,467,482 (GRCm39) |
E593D |
probably benign |
Het |
Mlh1 |
G |
T |
9: 111,057,563 (GRCm39) |
N749K |
possibly damaging |
Het |
Mrgprb2 |
T |
A |
7: 48,201,707 (GRCm39) |
*339C |
probably null |
Het |
Nphp4 |
T |
C |
4: 152,631,536 (GRCm39) |
V812A |
probably benign |
Het |
Nrcam |
G |
T |
12: 44,623,554 (GRCm39) |
V1048L |
probably benign |
Het |
Obsl1 |
G |
A |
1: 75,470,503 (GRCm39) |
A856V |
probably damaging |
Het |
Osgepl1 |
T |
A |
1: 53,357,326 (GRCm39) |
F163I |
probably damaging |
Het |
Pcdha6 |
C |
A |
18: 37,102,121 (GRCm39) |
T438K |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,286 (GRCm39) |
M271L |
probably benign |
Het |
Phip |
T |
C |
9: 82,789,005 (GRCm39) |
T770A |
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,217,734 (GRCm39) |
T166A |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,081,932 (GRCm39) |
I1102K |
probably benign |
Het |
Sbsn |
T |
C |
7: 30,452,692 (GRCm39) |
V569A |
possibly damaging |
Het |
Skida1 |
T |
A |
2: 18,050,814 (GRCm39) |
|
probably benign |
Het |
Smg1 |
T |
A |
7: 117,789,809 (GRCm39) |
|
probably benign |
Het |
Sorcs2 |
A |
G |
5: 36,386,535 (GRCm39) |
Y168H |
probably damaging |
Het |
Sufu |
A |
T |
19: 46,443,172 (GRCm39) |
|
probably null |
Het |
Tbc1d24 |
A |
T |
17: 24,404,500 (GRCm39) |
W215R |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,552,067 (GRCm39) |
L2502P |
probably damaging |
Het |
Tgm4 |
A |
T |
9: 122,890,703 (GRCm39) |
E10V |
probably damaging |
Het |
Trip11 |
T |
C |
12: 101,852,231 (GRCm39) |
E611G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,540,243 (GRCm39) |
A34248S |
possibly damaging |
Het |
Ube3a |
T |
A |
7: 58,921,776 (GRCm39) |
N49K |
probably damaging |
Het |
Ube3c |
A |
G |
5: 29,863,290 (GRCm39) |
D855G |
possibly damaging |
Het |
Ugt8a |
A |
G |
3: 125,669,202 (GRCm39) |
S301P |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,824,534 (GRCm39) |
N1295I |
possibly damaging |
Het |
Wdr47 |
G |
T |
3: 108,517,328 (GRCm39) |
G43C |
probably damaging |
Het |
Wdtc1 |
A |
C |
4: 133,021,673 (GRCm39) |
L601W |
unknown |
Het |
Zfp236 |
A |
G |
18: 82,658,276 (GRCm39) |
F614S |
possibly damaging |
Het |
Zfp637 |
T |
A |
6: 117,822,047 (GRCm39) |
D58E |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTATCCCTGCACTCGTTGAG -3'
(R):5'- AGTTGTGTCAGGGCTCTAAGC -3'
Sequencing Primer
(F):5'- AGCGAGGCTGATGATGCTC -3'
(R):5'- CAGGGCTCTAAGCGTAGTG -3'
|
Posted On |
2017-02-15 |