Incidental Mutation 'R1343:Kif19a'
| ID |
156437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif19a
|
| Ensembl Gene |
ENSMUSG00000010021 |
| Gene Name |
kinesin family member 19A |
| Synonyms |
N-8 kinesin |
| MMRRC Submission |
039408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R1343 (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 114676653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 494
(D494G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084368]
[ENSMUST00000138804]
|
| AlphaFold |
Q99PT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084368
AA Change: D494G
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: D494G
| 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 |
probably benign
Transcript: ENSMUST00000138804
AA Change: D452G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: D452G
| 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: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle2 |
T |
C |
5: 110,385,832 (GRCm39) |
V361A |
probably damaging |
Het |
| Art1 |
A |
G |
7: 101,756,160 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,731,672 (GRCm39) |
Y215H |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,696,069 (GRCm39) |
E2666G |
unknown |
Het |
| Cps1 |
T |
A |
1: 67,248,768 (GRCm39) |
V1165E |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,888 (GRCm39) |
K180N |
probably benign |
Het |
| Gsto2 |
A |
T |
19: 47,873,146 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Lnx1 |
T |
C |
5: 74,758,040 (GRCm39) |
R695G |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,927,272 (GRCm39) |
L327P |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,603 (GRCm39) |
T177A |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,481,709 (GRCm39) |
M208K |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,223 (GRCm39) |
H1239Q |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Prmt3 |
C |
T |
7: 49,467,856 (GRCm39) |
S354L |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,754,763 (GRCm39) |
H1176L |
probably damaging |
Het |
| Serpinb9h |
G |
A |
13: 33,588,468 (GRCm39) |
C351Y |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,195,596 (GRCm39) |
S1618G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,080,417 (GRCm39) |
S4784P |
probably damaging |
Het |
| Usp14 |
T |
C |
18: 10,016,623 (GRCm39) |
T73A |
probably benign |
Het |
| Vmn2r53 |
G |
A |
7: 12,318,701 (GRCm39) |
P458L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,238 (GRCm39) |
D2602G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACGAGCAGATGGATGTGC -3'
(R):5'- AGATGTAGAGACCTGGACACCCAAG -3'
Sequencing Primer
(F):5'- TGGAAGTCCAGATTGACACCTC -3'
(R):5'- gacacccaagatttgtggc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation