Incidental Mutation 'R1547:Kif19a'
ID |
172282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif19a
|
Ensembl Gene |
ENSMUSG00000010021 |
Gene Name |
kinesin family member 19A |
Synonyms |
N-8 kinesin |
MMRRC Submission |
039586-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R1547 (G1)
|
Quality Score |
121 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114677398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 594
(E594G)
|
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 |
probably benign
Transcript: ENSMUST00000084368
AA Change: E594G
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: E594G
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: ENSMUST00000138804
AA Change: E552G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000115663 Gene: ENSMUSG00000010021 AA Change: E552G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156192
|
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
Cd101 |
T |
C |
3: 100,926,267 (GRCm39) |
T151A |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
Entrep1 |
T |
C |
19: 23,957,065 (GRCm39) |
D315G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
Mcph1 |
A |
G |
8: 18,672,702 (GRCm39) |
R111G |
possibly damaging |
Het |
Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
Tas1r1 |
A |
G |
4: 152,112,876 (GRCm39) |
S726P |
probably damaging |
Het |
Zeb1 |
C |
T |
18: 5,767,450 (GRCm39) |
R654C |
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 |
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'- GTCACAGGGCATGGTTGAGTCAAG -3'
(R):5'- AGACTTCGTAGAGTTCCTCCAGGTG -3'
Sequencing Primer
(F):5'- GGGCTAACCTATACTTGGAGTACC -3'
(R):5'- CGGGGAACCTCCAGATTGTAG -3'
|
Posted On |
2014-04-13 |