Incidental Mutation 'IGL02422:Kif19a'
| ID |
292713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02422
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
114656227-114681565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 114680187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 841
(S841R)
|
| 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 damaging
Transcript: ENSMUST00000084368
AA Change: S841R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: S841R
| 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 |
noncoding transcript
Transcript: ENSMUST00000137965
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138340
AA Change: S112R
|
| SMART Domains |
Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021
AA Change: S112R
| 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: ENSMUST00000156192
|
| 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 |
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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019M22Rik |
T |
C |
12: 96,013,821 (GRCm39) |
|
noncoding transcript |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Aak1 |
A |
T |
6: 86,959,598 (GRCm39) |
T846S |
unknown |
Het |
| Adgrl1 |
A |
G |
8: 84,664,115 (GRCm39) |
D1149G |
probably damaging |
Het |
| AI661453 |
C |
T |
17: 47,778,017 (GRCm39) |
|
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,720,170 (GRCm39) |
V139A |
possibly damaging |
Het |
| Arhgef16 |
G |
A |
4: 154,371,522 (GRCm39) |
R224* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,976,386 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,412,092 (GRCm39) |
V988D |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,533,823 (GRCm39) |
E47G |
probably damaging |
Het |
| Cdkn2aip |
G |
A |
8: 48,164,534 (GRCm39) |
S393L |
probably damaging |
Het |
| Cep20 |
T |
G |
16: 14,118,070 (GRCm39) |
D150A |
probably benign |
Het |
| Cyp2c68 |
A |
C |
19: 39,722,896 (GRCm39) |
N217K |
probably damaging |
Het |
| Dapp1 |
A |
T |
3: 137,667,260 (GRCm39) |
S101T |
probably benign |
Het |
| Ddx25 |
T |
C |
9: 35,462,660 (GRCm39) |
I242V |
probably null |
Het |
| Dpy19l4 |
T |
C |
4: 11,265,803 (GRCm39) |
N715S |
possibly damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,606,644 (GRCm39) |
E2511G |
possibly damaging |
Het |
| Gm9839 |
T |
A |
1: 32,558,943 (GRCm39) |
|
probably benign |
Het |
| Grn |
A |
G |
11: 102,327,084 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
T |
C |
7: 30,359,571 (GRCm39) |
T196A |
possibly damaging |
Het |
| Ik |
A |
G |
18: 36,886,313 (GRCm39) |
|
probably null |
Het |
| Inpp5d |
T |
G |
1: 87,635,854 (GRCm39) |
F473C |
probably damaging |
Het |
| Lipn |
G |
A |
19: 34,046,063 (GRCm39) |
C12Y |
probably benign |
Het |
| Ltbp4 |
G |
T |
7: 27,019,097 (GRCm39) |
P1074Q |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,741,535 (GRCm39) |
S65P |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,426,439 (GRCm39) |
F127S |
possibly damaging |
Het |
| Or8k37 |
A |
G |
2: 86,469,560 (GRCm39) |
F164S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,764,503 (GRCm39) |
D336G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,871,237 (GRCm39) |
|
probably benign |
Het |
| Plekhm3 |
A |
T |
1: 64,961,025 (GRCm39) |
C410* |
probably null |
Het |
| Ppm1f |
T |
A |
16: 16,735,580 (GRCm39) |
H265Q |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
| Rasal3 |
T |
C |
17: 32,617,947 (GRCm39) |
T207A |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,719,592 (GRCm39) |
N947K |
probably damaging |
Het |
| Rpl3l |
C |
A |
17: 24,952,962 (GRCm39) |
Y307* |
probably null |
Het |
| Sema4d |
A |
G |
13: 51,857,124 (GRCm39) |
S703P |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,280 (GRCm39) |
M857T |
probably benign |
Het |
| Slc34a3 |
T |
C |
2: 25,122,275 (GRCm39) |
D110G |
probably benign |
Het |
| Spata32 |
A |
T |
11: 103,099,706 (GRCm39) |
N266K |
probably benign |
Het |
| Spata9 |
A |
G |
13: 76,141,193 (GRCm39) |
I147V |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,417,000 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,715,064 (GRCm39) |
I95T |
probably benign |
Het |
| Usp17ld |
T |
A |
7: 102,899,967 (GRCm39) |
M322L |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation