Incidental Mutation 'R1597:Kif18a'
| ID |
175849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif18a
|
| Ensembl Gene |
ENSMUSG00000027115 |
| Gene Name |
kinesin family member 18A |
| Synonyms |
gcd2, N-8 kinesin, B130001M12Rik |
| MMRRC Submission |
039634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
109111165-109172094 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109123336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 203
(I203M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028527]
|
| AlphaFold |
Q91WD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028527
AA Change: I203M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: I203M
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
9 |
363 |
8.91e-158 |
SMART |
|
Blast:KISc
|
382 |
433 |
1e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162515
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.1%
|
| Validation Efficiency |
100% (77/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for loss of function alleles exhibit reduced female fertility and male infertility due to primordial germ cell depletion. The sterility phenotype is incompletely penetrant, has variable expressivity, and is modulated by strain background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
A |
T |
19: 34,229,983 (GRCm39) |
|
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,881 (GRCm39) |
N748S |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,326 (GRCm39) |
I77N |
probably damaging |
Het |
| Ap1s1 |
A |
T |
5: 137,072,095 (GRCm39) |
M20K |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,892 (GRCm39) |
|
probably null |
Het |
| Atp1b1 |
G |
T |
1: 164,265,889 (GRCm39) |
R291S |
probably damaging |
Het |
| Birc7 |
T |
C |
2: 180,570,974 (GRCm39) |
V12A |
possibly damaging |
Het |
| Btnl2 |
T |
C |
17: 34,582,211 (GRCm39) |
V259A |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,377,343 (GRCm39) |
N434K |
probably benign |
Het |
| Cel |
G |
T |
2: 28,450,479 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,271,074 (GRCm39) |
K349E |
probably damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,239,768 (GRCm39) |
V315A |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,994,324 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,595,474 (GRCm39) |
T441A |
probably benign |
Het |
| Ermap |
A |
T |
4: 119,041,152 (GRCm39) |
I286N |
probably damaging |
Het |
| Fbxl17 |
T |
C |
17: 63,794,813 (GRCm39) |
K423R |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,561,940 (GRCm39) |
T856A |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,543,901 (GRCm39) |
E64G |
probably damaging |
Het |
| Gzma |
T |
A |
13: 113,232,331 (GRCm39) |
N190I |
probably damaging |
Het |
| Ifngr1 |
C |
T |
10: 19,485,090 (GRCm39) |
T363M |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,782,732 (GRCm39) |
T690A |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,823,074 (GRCm39) |
E485G |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,438,647 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
C |
T |
16: 32,770,781 (GRCm39) |
Q128* |
probably null |
Het |
| Lrriq4 |
C |
G |
3: 30,705,037 (GRCm39) |
P355R |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 5,003,563 (GRCm39) |
H551Q |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,319,060 (GRCm39) |
F763L |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,156,758 (GRCm39) |
V55E |
probably damaging |
Het |
| Me2 |
A |
T |
18: 73,931,016 (GRCm39) |
N92K |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,815,560 (GRCm39) |
S667P |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,753,317 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,256,329 (GRCm39) |
M197L |
probably damaging |
Het |
| N4bp2 |
C |
T |
5: 65,964,483 (GRCm39) |
T844I |
probably benign |
Het |
| Nlrc3 |
T |
A |
16: 3,781,859 (GRCm39) |
R517W |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,573,995 (GRCm39) |
I227F |
probably damaging |
Het |
| Or52a5 |
A |
G |
7: 103,427,267 (GRCm39) |
F95S |
probably benign |
Het |
| Pabpc2 |
A |
G |
18: 39,906,953 (GRCm39) |
N73D |
probably damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,624,820 (GRCm39) |
R717G |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,413,964 (GRCm39) |
M1702L |
probably benign |
Het |
| Plxna2 |
A |
C |
1: 194,431,614 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,630,755 (GRCm39) |
M1221T |
possibly damaging |
Het |
| Polr2b |
A |
G |
5: 77,473,948 (GRCm39) |
D384G |
probably damaging |
Het |
| Ppl |
T |
A |
16: 4,925,438 (GRCm39) |
H67L |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,757,035 (GRCm39) |
L63S |
probably damaging |
Het |
| Psme1 |
A |
G |
14: 55,818,222 (GRCm39) |
T150A |
probably damaging |
Het |
| Rapgef5 |
C |
T |
12: 117,621,940 (GRCm39) |
R33C |
probably damaging |
Het |
| Rela |
G |
A |
19: 5,695,359 (GRCm39) |
R295H |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,320,421 (GRCm39) |
V326E |
probably damaging |
Het |
| Scn5a |
C |
A |
9: 119,391,563 (GRCm39) |
R43L |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,143 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,283,587 (GRCm39) |
A469T |
probably benign |
Het |
| Spaca7 |
G |
T |
8: 12,630,991 (GRCm39) |
E48* |
probably null |
Het |
| Syn3 |
G |
T |
10: 85,970,908 (GRCm39) |
T238K |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,470,626 (GRCm39) |
S60P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,151,128 (GRCm39) |
I256T |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,552,196 (GRCm39) |
|
probably null |
Het |
| Tex15 |
A |
G |
8: 34,061,511 (GRCm39) |
T588A |
probably damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,004 (GRCm39) |
|
probably benign |
Het |
| Tmem62 |
G |
A |
2: 120,814,843 (GRCm39) |
A169T |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,924,621 (GRCm39) |
S1026P |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,658,418 (GRCm39) |
S568P |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,888 (GRCm39) |
I947F |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,170,402 (GRCm39) |
L832Q |
possibly damaging |
Het |
| U2surp |
C |
T |
9: 95,363,793 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
A |
T |
9: 44,841,064 (GRCm39) |
D1009E |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,965,262 (GRCm39) |
E192G |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,273,352 (GRCm39) |
V722A |
possibly damaging |
Het |
| Zfp386 |
T |
C |
12: 116,023,709 (GRCm39) |
S476P |
probably damaging |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zfyve16 |
T |
A |
13: 92,644,755 (GRCm39) |
N1149I |
probably benign |
Het |
|
| Other mutations in Kif18a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Kif18a
|
APN |
2 |
109,148,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00795:Kif18a
|
APN |
2 |
109,123,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00904:Kif18a
|
APN |
2 |
109,122,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00990:Kif18a
|
APN |
2 |
109,164,767 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01323:Kif18a
|
APN |
2 |
109,128,787 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01382:Kif18a
|
APN |
2 |
109,127,111 (GRCm39) |
nonsense |
probably null |
|
|
IGL02205:Kif18a
|
APN |
2 |
109,137,363 (GRCm39) |
splice site |
probably benign |
|
|
IGL02207:Kif18a
|
APN |
2 |
109,127,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02970:Kif18a
|
APN |
2 |
109,118,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Kif18a
|
APN |
2 |
109,148,462 (GRCm39) |
splice site |
probably benign |
|
|
R0030:Kif18a
|
UTSW |
2 |
109,163,663 (GRCm39) |
missense |
probably benign |
|
|
R0482:Kif18a
|
UTSW |
2 |
109,118,188 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0631:Kif18a
|
UTSW |
2 |
109,128,667 (GRCm39) |
splice site |
probably benign |
|
|
R1640:Kif18a
|
UTSW |
2 |
109,120,161 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1675:Kif18a
|
UTSW |
2 |
109,128,748 (GRCm39) |
missense |
probably benign |
|
|
R1723:Kif18a
|
UTSW |
2 |
109,133,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Kif18a
|
UTSW |
2 |
109,163,848 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2142:Kif18a
|
UTSW |
2 |
109,163,848 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2243:Kif18a
|
UTSW |
2 |
109,128,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3609:Kif18a
|
UTSW |
2 |
109,168,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3611:Kif18a
|
UTSW |
2 |
109,168,941 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3882:Kif18a
|
UTSW |
2 |
109,137,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4292:Kif18a
|
UTSW |
2 |
109,128,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4293:Kif18a
|
UTSW |
2 |
109,123,398 (GRCm39) |
missense |
probably benign |
|
|
R4294:Kif18a
|
UTSW |
2 |
109,123,398 (GRCm39) |
missense |
probably benign |
|
|
R4295:Kif18a
|
UTSW |
2 |
109,123,398 (GRCm39) |
missense |
probably benign |
|
|
R4428:Kif18a
|
UTSW |
2 |
109,118,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Kif18a
|
UTSW |
2 |
109,118,220 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4819:Kif18a
|
UTSW |
2 |
109,122,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5078:Kif18a
|
UTSW |
2 |
109,125,487 (GRCm39) |
splice site |
probably benign |
|
|
R5175:Kif18a
|
UTSW |
2 |
109,133,323 (GRCm39) |
splice site |
probably null |
|
|
R5319:Kif18a
|
UTSW |
2 |
109,148,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5821:Kif18a
|
UTSW |
2 |
109,120,190 (GRCm39) |
splice site |
probably benign |
|
|
R5966:Kif18a
|
UTSW |
2 |
109,122,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Kif18a
|
UTSW |
2 |
109,127,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7069:Kif18a
|
UTSW |
2 |
109,125,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7765:Kif18a
|
UTSW |
2 |
109,137,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7801:Kif18a
|
UTSW |
2 |
109,118,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7834:Kif18a
|
UTSW |
2 |
109,127,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8442:Kif18a
|
UTSW |
2 |
109,125,318 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8510:Kif18a
|
UTSW |
2 |
109,127,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Kif18a
|
UTSW |
2 |
109,127,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8936:Kif18a
|
UTSW |
2 |
109,163,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9014:Kif18a
|
UTSW |
2 |
109,123,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Kif18a
|
UTSW |
2 |
109,171,506 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9246:Kif18a
|
UTSW |
2 |
109,163,819 (GRCm39) |
missense |
probably benign |
|
|
R9483:Kif18a
|
UTSW |
2 |
109,120,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Kif18a
|
UTSW |
2 |
109,171,517 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9644:Kif18a
|
UTSW |
2 |
109,171,517 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9721:Kif18a
|
UTSW |
2 |
109,123,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9727:Kif18a
|
UTSW |
2 |
109,118,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kif18a
|
UTSW |
2 |
109,148,398 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1177:Kif18a
|
UTSW |
2 |
109,125,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTACTCCTTAGCCCCAAGTACTAAAC -3'
(R):5'- CAAACAAAGTTGCGAACGAAGCAATG -3'
Sequencing Primer
(F):5'- gaggcagaggcaggcag -3'
(R):5'- CGAAGCAATGGAAGTGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation