Incidental Mutation 'R2291:Kif19a'
ID |
244373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif19a
|
Ensembl Gene |
ENSMUSG00000010021 |
Gene Name |
kinesin family member 19A |
Synonyms |
N-8 kinesin |
MMRRC Submission |
040290-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R2291 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114681019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 247
(T247A)
|
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 |
probably benign
Transcript: ENSMUST00000084368
AA Change: T976A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: T976A
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 damaging
Transcript: ENSMUST00000138340
AA Change: T247A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122743 Gene: ENSMUSG00000010021 AA Change: T247A
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: ENSMUST00000137965
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141481
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146853
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141386
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,207,450 (GRCm39) |
I247N |
probably damaging |
Het |
Afdn |
A |
G |
17: 14,109,153 (GRCm39) |
K1559E |
probably damaging |
Het |
Ankhd1 |
C |
T |
18: 36,777,386 (GRCm39) |
T1523I |
probably benign |
Het |
Apc |
T |
A |
18: 34,445,544 (GRCm39) |
N795K |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,490,751 (GRCm39) |
|
probably benign |
Het |
Atm |
C |
T |
9: 53,402,209 (GRCm39) |
|
probably null |
Het |
Atp1a4 |
T |
C |
1: 172,072,473 (GRCm39) |
N394D |
probably damaging |
Het |
Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
Cacna1d |
G |
T |
14: 29,764,299 (GRCm39) |
R2078S |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
Camk2a |
T |
A |
18: 61,097,031 (GRCm39) |
V38E |
probably damaging |
Het |
Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
Ccr7 |
G |
A |
11: 99,036,161 (GRCm39) |
R254C |
probably damaging |
Het |
Celf5 |
C |
T |
10: 81,302,881 (GRCm39) |
G267D |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,965,634 (GRCm39) |
P459S |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,498,599 (GRCm39) |
K267E |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,692,354 (GRCm39) |
Y331N |
probably damaging |
Het |
Cltc |
G |
A |
11: 86,624,448 (GRCm39) |
T158I |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,960,833 (GRCm39) |
D430E |
unknown |
Het |
Cspg4 |
T |
C |
9: 56,800,027 (GRCm39) |
V1597A |
probably damaging |
Het |
Cstf2t |
T |
A |
19: 31,062,264 (GRCm39) |
L600H |
probably benign |
Het |
Cyp27b1 |
T |
C |
10: 126,884,163 (GRCm39) |
V5A |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,136,746 (GRCm39) |
Q1339K |
probably damaging |
Het |
Diaph3 |
G |
T |
14: 87,203,882 (GRCm39) |
P592Q |
probably damaging |
Het |
Dync2i1 |
A |
T |
12: 116,193,191 (GRCm39) |
|
probably null |
Het |
Epha8 |
T |
C |
4: 136,660,658 (GRCm39) |
M687V |
probably damaging |
Het |
Fhod1 |
T |
A |
8: 106,063,596 (GRCm39) |
|
probably benign |
Het |
Gls2 |
C |
A |
10: 128,043,479 (GRCm39) |
S73* |
probably null |
Het |
Gm3604 |
T |
A |
13: 62,519,657 (GRCm39) |
M33L |
probably damaging |
Het |
Gpr39 |
A |
G |
1: 125,605,278 (GRCm39) |
T69A |
probably benign |
Het |
Hal |
T |
C |
10: 93,339,398 (GRCm39) |
F496L |
probably damaging |
Het |
Hipk1 |
T |
C |
3: 103,668,926 (GRCm39) |
E490G |
probably damaging |
Het |
Ints7 |
T |
G |
1: 191,338,315 (GRCm39) |
|
probably null |
Het |
Itpr3 |
A |
G |
17: 27,332,553 (GRCm39) |
E1799G |
possibly damaging |
Het |
Kif11 |
T |
A |
19: 37,395,451 (GRCm39) |
M570K |
probably benign |
Het |
Kif18b |
G |
T |
11: 102,799,096 (GRCm39) |
Q702K |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,658,136 (GRCm39) |
E360G |
probably damaging |
Het |
Loxl3 |
G |
T |
6: 83,014,469 (GRCm39) |
A126S |
probably benign |
Het |
Mc5r |
C |
T |
18: 68,472,435 (GRCm39) |
R265W |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,306,197 (GRCm39) |
V340A |
probably benign |
Het |
Mrpl13 |
G |
T |
15: 55,411,615 (GRCm39) |
H56Q |
probably damaging |
Het |
Msr1 |
T |
C |
8: 40,077,263 (GRCm39) |
T116A |
probably benign |
Het |
N4bp3 |
T |
C |
11: 51,536,930 (GRCm39) |
K48E |
probably damaging |
Het |
Naaladl1 |
A |
G |
19: 6,156,225 (GRCm39) |
T104A |
probably benign |
Het |
Neu1 |
C |
T |
17: 35,151,742 (GRCm39) |
R179W |
probably damaging |
Het |
Or10d5 |
T |
C |
9: 39,861,630 (GRCm39) |
T146A |
probably benign |
Het |
Or8k21 |
A |
T |
2: 86,145,524 (GRCm39) |
Y35* |
probably null |
Het |
Osbp |
G |
T |
19: 11,951,198 (GRCm39) |
E248* |
probably null |
Het |
Otx1 |
T |
A |
11: 21,946,634 (GRCm39) |
|
probably benign |
Het |
Parp4 |
A |
T |
14: 56,851,274 (GRCm39) |
Q759L |
probably damaging |
Het |
Pax6 |
A |
C |
2: 105,516,228 (GRCm39) |
S169R |
probably benign |
Het |
Pigg |
T |
G |
5: 108,480,783 (GRCm39) |
I389M |
probably damaging |
Het |
Pla2g4a |
C |
A |
1: 149,776,940 (GRCm39) |
V59F |
probably damaging |
Het |
Plcb4 |
A |
T |
2: 135,781,903 (GRCm39) |
Q241H |
probably benign |
Het |
Plpp6 |
A |
G |
19: 28,941,720 (GRCm39) |
D107G |
probably damaging |
Het |
Ppp6r2 |
T |
A |
15: 89,159,690 (GRCm39) |
L459Q |
probably damaging |
Het |
Prss55 |
A |
T |
14: 64,313,171 (GRCm39) |
W238R |
probably damaging |
Het |
Rgl1 |
C |
T |
1: 152,412,032 (GRCm39) |
E446K |
probably damaging |
Het |
Ric3 |
C |
T |
7: 108,638,090 (GRCm39) |
G221D |
probably damaging |
Het |
Rnf167 |
T |
C |
11: 70,540,129 (GRCm39) |
F83S |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,798,202 (GRCm39) |
V947M |
probably damaging |
Het |
Scn1a |
A |
G |
2: 66,119,312 (GRCm39) |
L1397P |
probably benign |
Het |
Sh3bp1 |
T |
A |
15: 78,802,519 (GRCm39) |
V251E |
possibly damaging |
Het |
Slc25a10 |
A |
T |
11: 120,387,900 (GRCm39) |
I198L |
probably benign |
Het |
Smoc2 |
A |
T |
17: 14,589,233 (GRCm39) |
N234I |
possibly damaging |
Het |
Spdl1 |
T |
A |
11: 34,710,136 (GRCm39) |
K382* |
probably null |
Het |
Ssrp1 |
G |
A |
2: 84,872,660 (GRCm39) |
|
probably null |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Triqk |
T |
A |
4: 12,974,817 (GRCm39) |
|
probably null |
Het |
Ttc19 |
T |
C |
11: 62,174,519 (GRCm39) |
Y128H |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,677 (GRCm39) |
S182P |
possibly damaging |
Het |
Vmn1r226 |
A |
G |
17: 20,908,475 (GRCm39) |
I236V |
probably damaging |
Het |
Vmn2r120 |
A |
C |
17: 57,816,479 (GRCm39) |
N625K |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,569,362 (GRCm39) |
I85T |
probably damaging |
Het |
Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
Wnt7a |
C |
T |
6: 91,371,468 (GRCm39) |
V165I |
probably benign |
Het |
Zbtb40 |
A |
T |
4: 136,712,328 (GRCm39) |
Y1127N |
possibly damaging |
Het |
Zfyve1 |
A |
T |
12: 83,594,705 (GRCm39) |
H762Q |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGGAGCAGTACTGGGTG -3'
(R):5'- TGCAGATAACTCTACCGTTTCC -3'
Sequencing Primer
(F):5'- ACTGGGTGGGGTTTGCAAAC -3'
(R):5'- AGCCCAGTCCGCTAAACTCTTG -3'
|
Posted On |
2014-10-30 |