Incidental Mutation 'IGL02997:Kif18b'
| ID |
407185 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif18b
|
| Ensembl Gene |
ENSMUSG00000051378 |
| Gene Name |
kinesin family member 18B |
| Synonyms |
N-8 kinesin, 3000004C01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
102796355-102815950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102799910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 513
(L513P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021311]
|
| AlphaFold |
Q6PFD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021311
AA Change: L513P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: L513P
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
7 |
361 |
1.47e-158 |
SMART |
|
coiled coil region
|
368 |
404 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,817,353 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
| Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,195 (GRCm39) |
D423E |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
| Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,548,539 (GRCm39) |
V342A |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
| Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
| Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
| Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,104,239 (GRCm39) |
E146K |
probably damaging |
Het |
| Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
| Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,639,454 (GRCm39) |
R148H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
| Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
| Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
probably null |
Het |
|
| Other mutations in Kif18b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Kif18b
|
APN |
11 |
102,805,501 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01570:Kif18b
|
APN |
11 |
102,803,217 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02965:Kif18b
|
APN |
11 |
102,807,338 (GRCm39) |
start gained |
probably benign |
|
|
IGL03135:Kif18b
|
APN |
11 |
102,805,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Kif18b
|
UTSW |
11 |
102,799,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Kif18b
|
UTSW |
11 |
102,806,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1446:Kif18b
|
UTSW |
11 |
102,805,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1674:Kif18b
|
UTSW |
11 |
102,803,886 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1729:Kif18b
|
UTSW |
11 |
102,806,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1784:Kif18b
|
UTSW |
11 |
102,806,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2249:Kif18b
|
UTSW |
11 |
102,803,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2291:Kif18b
|
UTSW |
11 |
102,799,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Kif18b
|
UTSW |
11 |
102,807,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Kif18b
|
UTSW |
11 |
102,804,568 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5500:Kif18b
|
UTSW |
11 |
102,806,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Kif18b
|
UTSW |
11 |
102,799,015 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5820:Kif18b
|
UTSW |
11 |
102,803,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5910:Kif18b
|
UTSW |
11 |
102,804,370 (GRCm39) |
missense |
probably benign |
|
|
R5912:Kif18b
|
UTSW |
11 |
102,803,817 (GRCm39) |
missense |
probably benign |
|
|
R6394:Kif18b
|
UTSW |
11 |
102,805,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6541:Kif18b
|
UTSW |
11 |
102,805,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Kif18b
|
UTSW |
11 |
102,807,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7467:Kif18b
|
UTSW |
11 |
102,803,174 (GRCm39) |
splice site |
probably null |
|
|
R7467:Kif18b
|
UTSW |
11 |
102,807,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Kif18b
|
UTSW |
11 |
102,805,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7581:Kif18b
|
UTSW |
11 |
102,805,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8314:Kif18b
|
UTSW |
11 |
102,803,900 (GRCm39) |
missense |
probably benign |
|
|
R8378:Kif18b
|
UTSW |
11 |
102,807,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF013:Kif18b
|
UTSW |
11 |
102,803,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Kif18b
|
UTSW |
11 |
102,798,983 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation