Incidental Mutation 'R6879:Kif19a'
ID |
536567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif19a
|
Ensembl Gene |
ENSMUSG00000010021 |
Gene Name |
kinesin family member 19A |
Synonyms |
N-8 kinesin |
MMRRC Submission |
044975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R6879 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 114672159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 249
(I249V)
|
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: I249V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000081398 Gene: ENSMUSG00000010021 AA Change: I249V
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 |
probably benign
Transcript: ENSMUST00000138804
AA Change: I207V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115663 Gene: ENSMUSG00000010021 AA Change: I207V
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 |
|
Meta Mutation Damage Score |
0.1081 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (42/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
Klhdc10 |
T |
A |
6: 30,449,589 (GRCm39) |
M217K |
probably damaging |
Het |
Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
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 |
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'- TTCCCAGATCATGCAGCTGC -3'
(R):5'- TCTGGGGACTCCACTTATCAC -3'
Sequencing Primer
(F):5'- CAGATCATGCAGCTGCTGATG -3'
(R):5'- TACACATCCTCGAGACATCTTC -3'
|
Posted On |
2018-10-18 |