Incidental Mutation 'R6541:Kif18b'
| ID |
520786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif18b
|
| Ensembl Gene |
ENSMUSG00000051378 |
| Gene Name |
kinesin family member 18B |
| Synonyms |
N-8 kinesin, 3000004C01Rik |
| MMRRC Submission |
044667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102796355-102815950 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102805092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 351
(K351R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021311]
|
| AlphaFold |
Q6PFD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021311
AA Change: K351R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: K351R
| 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
|
| Meta Mutation Damage Score |
0.6263 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ass1 |
T |
C |
2: 31,400,245 (GRCm39) |
V321A |
probably damaging |
Het |
| BC028528 |
T |
A |
3: 95,795,530 (GRCm39) |
M91L |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,713,054 (GRCm39) |
T998A |
probably benign |
Het |
| Cdkl3 |
T |
G |
11: 51,913,571 (GRCm39) |
L220R |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,548,040 (GRCm39) |
D117G |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,248,779 (GRCm39) |
V1776A |
possibly damaging |
Het |
| Crygf |
T |
C |
1: 65,967,224 (GRCm39) |
F116S |
probably damaging |
Het |
| Ergic2 |
T |
A |
6: 148,084,648 (GRCm39) |
Y20F |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,799 (GRCm39) |
V179A |
probably benign |
Het |
| Gm28360 |
T |
C |
1: 117,758,047 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,614,210 (GRCm39) |
V385I |
probably damaging |
Het |
| Iba57 |
A |
T |
11: 59,049,689 (GRCm39) |
D219E |
possibly damaging |
Het |
| Il36b |
T |
A |
2: 24,049,827 (GRCm39) |
V146D |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,910,734 (GRCm39) |
V176E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,571,517 (GRCm39) |
M1060V |
possibly damaging |
Het |
| Mroh9 |
A |
G |
1: 162,885,607 (GRCm39) |
F342L |
possibly damaging |
Het |
| Ndufa11 |
T |
A |
17: 57,024,867 (GRCm39) |
S10T |
probably benign |
Het |
| Or2bd2 |
A |
T |
7: 6,443,492 (GRCm39) |
N198Y |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,638 (GRCm39) |
F101S |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,410 (GRCm39) |
F47Y |
probably benign |
Het |
| Or7h8 |
T |
A |
9: 20,123,695 (GRCm39) |
F17I |
probably benign |
Het |
| Pacsin3 |
A |
G |
2: 91,093,129 (GRCm39) |
E207G |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,274,103 (GRCm39) |
L136Q |
probably damaging |
Het |
| Prr18 |
G |
T |
17: 8,560,168 (GRCm39) |
R108L |
possibly damaging |
Het |
| Rdh5 |
A |
G |
10: 128,753,977 (GRCm39) |
V44A |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,542,748 (GRCm39) |
T343A |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,913,268 (GRCm39) |
N480S |
probably benign |
Het |
| Spaca7b |
T |
A |
8: 11,712,613 (GRCm39) |
Q79L |
probably benign |
Het |
| Sval3 |
A |
T |
6: 41,949,380 (GRCm39) |
N73Y |
probably damaging |
Het |
| Taar7d |
T |
C |
10: 23,904,129 (GRCm39) |
I337T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,039 (GRCm39) |
Q24618L |
possibly damaging |
Het |
| Ugt1a9 |
T |
A |
1: 87,999,318 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,701,480 (GRCm39) |
I7F |
probably benign |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,939 (GRCm39) |
S155P |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,090,842 (GRCm39) |
V169E |
probably damaging |
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 |
|
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 |
|
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'- CTATAGCAAGTCTAGCCCATCCTC -3'
(R):5'- GGCAATCTAACCCAGCTACG -3'
Sequencing Primer
(F):5'- AAGTCTAGCCCATCCTCCCTCAG -3'
(R):5'- AGCTACGCACTTACTGCCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation