Incidental Mutation 'R5786:Kif19a'
ID |
448037 |
Institutional Source |
Beutler Lab
|
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 # |
R5786 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 114670049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 81
(Y81*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084368]
[ENSMUST00000138804]
|
AlphaFold |
Q99PT9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084368
AA Change: Y81*
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: Y81*
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 null
Transcript: ENSMUST00000138804
AA Change: Y81*
|
SMART Domains |
Protein: ENSMUSP00000115663 Gene: ENSMUSG00000010021 AA Change: Y81*
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
A |
6: 40,945,122 (GRCm39) |
D200E |
probably damaging |
Het |
4930578I06Rik |
C |
A |
14: 64,210,691 (GRCm39) |
R179L |
probably damaging |
Het |
Abhd5 |
A |
G |
9: 122,192,868 (GRCm39) |
|
probably null |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Apob |
C |
T |
12: 8,065,304 (GRCm39) |
T4091I |
possibly damaging |
Het |
Avil |
G |
A |
10: 126,852,368 (GRCm39) |
|
probably null |
Het |
Cacna1a |
T |
C |
8: 85,142,350 (GRCm39) |
|
probably benign |
Het |
Capn7 |
T |
C |
14: 31,082,102 (GRCm39) |
L436P |
probably damaging |
Het |
Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,244 (GRCm39) |
S150P |
probably damaging |
Het |
Cd1d1 |
T |
C |
3: 86,906,095 (GRCm39) |
N60S |
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,446,641 (GRCm39) |
|
probably null |
Het |
Col15a1 |
A |
G |
4: 47,280,865 (GRCm39) |
E753G |
possibly damaging |
Het |
Col1a2 |
C |
T |
6: 4,530,223 (GRCm39) |
R699W |
unknown |
Het |
Cracd |
T |
C |
5: 77,014,043 (GRCm39) |
|
probably null |
Het |
Csf2rb |
T |
C |
15: 78,233,155 (GRCm39) |
Y821H |
probably damaging |
Het |
Cyp3a11 |
A |
G |
5: 145,799,284 (GRCm39) |
I301T |
possibly damaging |
Het |
Dpp3 |
C |
T |
19: 4,968,350 (GRCm39) |
G241R |
possibly damaging |
Het |
Dpyd |
G |
T |
3: 119,220,886 (GRCm39) |
M952I |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,654,628 (GRCm39) |
I111L |
possibly damaging |
Het |
Ect2 |
A |
G |
3: 27,201,102 (GRCm39) |
F123L |
probably damaging |
Het |
Ehmt2 |
G |
C |
17: 35,129,719 (GRCm39) |
D961H |
probably damaging |
Het |
Esp1 |
A |
G |
17: 41,041,809 (GRCm39) |
I34V |
probably benign |
Het |
Fam171b |
G |
A |
2: 83,708,580 (GRCm39) |
V361I |
probably benign |
Het |
Flnc |
T |
A |
6: 29,459,536 (GRCm39) |
Y2545* |
probably null |
Het |
Fmo4 |
C |
T |
1: 162,631,286 (GRCm39) |
G227D |
probably benign |
Het |
Grn |
C |
T |
11: 102,324,869 (GRCm39) |
Q153* |
probably null |
Het |
H2-DMb1 |
T |
G |
17: 34,372,408 (GRCm39) |
S12R |
possibly damaging |
Het |
Ica1 |
G |
T |
6: 8,672,391 (GRCm39) |
N203K |
possibly damaging |
Het |
Kdm4c |
C |
A |
4: 74,277,722 (GRCm39) |
T792K |
probably damaging |
Het |
Kifc2 |
G |
T |
15: 76,548,578 (GRCm39) |
C440F |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,537,268 (GRCm39) |
T234A |
probably benign |
Het |
Lysmd2 |
C |
A |
9: 75,542,885 (GRCm39) |
P164Q |
probably benign |
Het |
Maea |
T |
A |
5: 33,526,027 (GRCm39) |
D234E |
probably benign |
Het |
Map4k1 |
T |
A |
7: 28,699,445 (GRCm39) |
V572E |
probably damaging |
Het |
Med6 |
C |
T |
12: 81,620,733 (GRCm39) |
G166R |
probably null |
Het |
Mtmr10 |
T |
C |
7: 63,987,458 (GRCm39) |
I666T |
probably damaging |
Het |
Myh14 |
T |
A |
7: 44,262,887 (GRCm39) |
K1777M |
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,517 (GRCm39) |
S6461P |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,061 (GRCm39) |
M1T |
probably null |
Het |
Osbpl7 |
T |
A |
11: 96,956,658 (GRCm39) |
V567E |
probably damaging |
Het |
Rad51ap2 |
A |
T |
12: 11,506,921 (GRCm39) |
D281V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpl24 |
C |
A |
16: 55,787,516 (GRCm39) |
H59N |
possibly damaging |
Het |
Rtl1 |
G |
A |
12: 109,559,053 (GRCm39) |
L929F |
possibly damaging |
Het |
Runx3 |
C |
T |
4: 134,890,575 (GRCm39) |
T159I |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,794,637 (GRCm39) |
I99V |
probably benign |
Het |
Slc12a6 |
C |
A |
2: 112,115,067 (GRCm39) |
P12Q |
probably benign |
Het |
Slc25a18 |
T |
C |
6: 120,769,035 (GRCm39) |
L184P |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,812,120 (GRCm39) |
D57G |
probably benign |
Het |
Spdye4c |
T |
A |
2: 128,438,761 (GRCm39) |
*340K |
probably null |
Het |
Srsf5 |
G |
A |
12: 80,996,311 (GRCm39) |
E162K |
possibly damaging |
Het |
Ssc5d |
T |
C |
7: 4,939,817 (GRCm39) |
V751A |
probably benign |
Het |
Tcf3 |
T |
C |
10: 80,255,333 (GRCm39) |
N157S |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,082 (GRCm39) |
V71A |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,121 (GRCm39) |
C678R |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,868,704 (GRCm39) |
K214* |
probably null |
Het |
Vps53 |
A |
G |
11: 75,953,833 (GRCm39) |
I659T |
probably benign |
Het |
Zfp597 |
A |
T |
16: 3,684,023 (GRCm39) |
C244* |
probably null |
Het |
Zfp933 |
T |
A |
4: 147,912,864 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGGAGGCTTCTCAGGTGAC -3'
(R):5'- GCAAGATTTGGATCATTCCCTC -3'
Sequencing Primer
(F):5'- AGGTGACCTGAGCCCTCTTTG -3'
(R):5'- AAGATTTGGATCATTCCCTCTATCC -3'
|
Posted On |
2016-12-15 |