Incidental Mutation 'R5500:Kif18b'
| ID |
501063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif18b
|
| Ensembl Gene |
ENSMUSG00000051378 |
| Gene Name |
kinesin family member 18B |
| Synonyms |
N-8 kinesin, 3000004C01Rik |
| MMRRC Submission |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102796355-102815950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102806526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 107
(V107E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021311]
|
| AlphaFold |
Q6PFD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021311
AA Change: V107E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: V107E
| 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: ENSMUST00000132502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,948,841 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
A |
8: 4,241,658 (GRCm39) |
M329K |
probably damaging |
Het |
| Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,462,611 (GRCm39) |
I293T |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
| Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,528 (GRCm39) |
T20A |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
| Rnf111 |
C |
A |
9: 70,383,325 (GRCm39) |
G203C |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
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 |
|
|
IGL02997:Kif18b
|
APN |
11 |
102,799,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAAGTGTGACATGGGCC -3'
(R):5'- CCAGTGCAGATCCTACTGAC -3'
Sequencing Primer
(F):5'- TGTGACATGGGCCAGAGC -3'
(R):5'- GTGCAGATCCTACTGACCAGAAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation