Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02970:Kif18a'

365783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif18a

Ensembl Gene

ENSMUSG00000027115

Gene Name

kinesin family member 18A

Synonyms

B130001M12Rik, N-8 kinesin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

109280738-109341747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109287888 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 16 (V16A)

Ref Sequence

ENSEMBL: ENSMUSP00000028527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028527]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028527
AA Change: V16A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: V16A

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,187,589	G5S	probably damaging	Het
A2ml1	A	T	6: 128,569,979	F396I	probably damaging	Het
BC051019	T	A	7: 109,716,055	N331I	probably benign	Het
Crocc	G	A	4: 141,030,246	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,529,215	D46G	probably damaging	Het
Dido1	C	T	2: 180,689,415	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,582,506	V278A	probably damaging	Het
Drosha	C	T	15: 12,913,956	L1106F	probably damaging	Het
Dsc3	C	A	18: 19,968,260	W692L	probably damaging	Het
F2	T	A	2: 91,625,551	Y579F	possibly damaging	Het
Fam126b	T	C	1: 58,539,617	E258G	probably damaging	Het
Fam43a	C	T	16: 30,601,104	R169C	probably damaging	Het
Gm9772	A	G	17: 22,006,559	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,632,993	S251P	probably benign	Het
Itgam	G	A	7: 128,086,043	E443K	probably benign	Het
Lrrn3	T	G	12: 41,452,360	S653R	probably benign	Het
Map1b	A	T	13: 99,430,734	Y1826*	probably null	Het
Mbnl1	T	C	3: 60,613,423	F139S	probably damaging	Het
Micu3	T	C	8: 40,382,130	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,377,018	T17A	probably damaging	Het
Oas1h	T	A	5: 120,861,635	M61K	possibly damaging	Het
Otog	T	A	7: 46,295,867	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,290,962		probably benign	Het
Plekho1	C	T	3: 95,990,902	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,298,766	S1004P	probably damaging	Het
Prf1	T	C	10: 61,300,178	S78P	probably benign	Het
Prss12	A	G	3: 123,482,762	S347G	probably benign	Het
Rai1	T	C	11: 60,185,733	S208P	probably damaging	Het
Sgms1	A	G	19: 32,159,765	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,909,906		probably benign	Het
T	C	T	17: 8,435,385	A134V	probably damaging	Het
Thoc5	A	G	11: 4,904,201	T187A	probably damaging	Het
Ticrr	A	G	7: 79,695,171	S1595G	probably benign	Het
Tiprl	A	G	1: 165,236,746	S30P	probably damaging	Het
Ttl	T	C	2: 129,076,070	S151P	probably damaging	Het
Ttn	T	A	2: 76,752,990	T22520S	probably damaging	Het
Usp54	G	A	14: 20,577,472	S420L	probably damaging	Het
Vmn1r62	T	A	7: 5,675,568	Y83N	possibly damaging	Het

Other mutations in Kif18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Kif18a	APN	2	109317988	missense	possibly damaging	0.93
IGL00795:Kif18a	APN	2	109293020	missense	probably damaging	1.00
IGL00904:Kif18a	APN	2	109292126	missense	probably damaging	1.00
IGL00990:Kif18a	APN	2	109334422	missense	probably benign	0.01
IGL01323:Kif18a	APN	2	109298442	missense	probably benign	0.02
IGL01382:Kif18a	APN	2	109296766	nonsense	probably null
IGL02205:Kif18a	APN	2	109307018	splice site	probably benign
IGL02207:Kif18a	APN	2	109296707	missense	probably damaging	0.99
IGL03087:Kif18a	APN	2	109318117	splice site	probably benign
R0030:Kif18a	UTSW	2	109333318	missense	probably benign
R0482:Kif18a	UTSW	2	109287843	start codon destroyed	probably null	1.00
R0631:Kif18a	UTSW	2	109298322	splice site	probably benign
R1597:Kif18a	UTSW	2	109292991	missense	probably damaging	1.00
R1640:Kif18a	UTSW	2	109289816	missense	probably benign	0.25
R1675:Kif18a	UTSW	2	109298403	missense	probably benign
R1723:Kif18a	UTSW	2	109302882	missense	probably damaging	1.00
R2141:Kif18a	UTSW	2	109333503	missense	probably benign	0.43
R2142:Kif18a	UTSW	2	109333503	missense	probably benign	0.43
R2243:Kif18a	UTSW	2	109298107	missense	probably damaging	1.00
R3609:Kif18a	UTSW	2	109338596	missense	probably benign	0.02
R3611:Kif18a	UTSW	2	109338596	missense	probably benign	0.02
R3882:Kif18a	UTSW	2	109306974	missense	probably benign	0.01
R4292:Kif18a	UTSW	2	109298126	missense	probably damaging	0.99
R4293:Kif18a	UTSW	2	109293053	missense	probably benign
R4294:Kif18a	UTSW	2	109293053	missense	probably benign
R4295:Kif18a	UTSW	2	109293053	missense	probably benign
R4428:Kif18a	UTSW	2	109288121	missense	probably damaging	1.00
R4791:Kif18a	UTSW	2	109287875	missense	probably benign	0.16
R4819:Kif18a	UTSW	2	109292126	missense	probably damaging	1.00
R5078:Kif18a	UTSW	2	109295142	splice site	probably benign
R5175:Kif18a	UTSW	2	109302978	splice site	probably null
R5319:Kif18a	UTSW	2	109318025	missense	probably benign	0.00
R5821:Kif18a	UTSW	2	109289845	splice site	probably benign
R5966:Kif18a	UTSW	2	109292066	missense	probably damaging	1.00
R6886:Kif18a	UTSW	2	109296663	missense	probably damaging	1.00
R7069:Kif18a	UTSW	2	109295002	missense	probably damaging	0.99
R7765:Kif18a	UTSW	2	109306940	missense	probably benign	0.00
R7801:Kif18a	UTSW	2	109287845	missense	probably damaging	0.99
R7834:Kif18a	UTSW	2	109296774	missense	probably damaging	1.00
R7917:Kif18a	UTSW	2	109296774	missense	probably damaging	1.00
Z1176:Kif18a	UTSW	2	109318053
Z1177:Kif18a	UTSW	2	109294957

Posted On

2015-12-18