Mutagenetix > Incidental Mutation

Incidental Mutation 'R8782:Kif18a'

670300

Institutional Source

Beutler Lab

Gene Symbol

Kif18a

Ensembl Gene

ENSMUSG00000027115

Gene Name

kinesin family member 18A

Synonyms

gcd2, N-8 kinesin, B130001M12Rik

MMRRC Submission

068630-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109111165-109172094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109127118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 351 (R351C)

Ref Sequence

ENSEMBL: ENSMUSP00000028527 (fasta)

Gene Model

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

AlphaFold

Q91WD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028527
AA Change: R351C

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

SMART Domains

Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: R351C

Domain	Start	End	E-Value	Type
KISc	9	363	8.91e-158	SMART
Blast:KISc	382	433	1e-14	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	G	9: 55,910,242 (GRCm39)		probably null	Het
Abhd16b	G	T	2: 181,136,208 (GRCm39)	R370L	probably benign	Het
Acox2	T	A	14: 8,250,035 (GRCm38)	T342S	probably damaging	Het
Adamts12	A	T	15: 11,237,678 (GRCm39)	Q329L	probably damaging	Het
Aimp1	T	C	3: 132,373,242 (GRCm39)	M233V	possibly damaging	Het
Atg16l1	A	G	1: 87,714,010 (GRCm39)	T474A	possibly damaging	Het
Atp1a1	T	C	3: 101,501,533 (GRCm39)	T57A	possibly damaging	Het
Bcat2	A	G	7: 45,234,917 (GRCm39)	D205G	probably benign	Het
Brd1	G	T	15: 88,614,834 (GRCm39)	C20*	probably null	Het
Camsap2	T	C	1: 136,204,957 (GRCm39)	M519V		Het
Caprin1	T	A	2: 103,603,133 (GRCm39)	T477S	probably benign	Het
Cdk5rap2	G	T	4: 70,161,712 (GRCm39)	Q1516K	possibly damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chat	A	T	14: 32,146,155 (GRCm39)	D339E	probably benign	Het
Col28a1	G	A	6: 8,175,227 (GRCm39)	S207F	unknown	Het
Commd10	T	A	18: 47,096,809 (GRCm39)	L72Q	probably damaging	Het
Crim1	T	C	17: 78,508,306 (GRCm39)	C37R	probably damaging	Het
Csgalnact1	T	A	8: 68,811,307 (GRCm39)	K454N	probably damaging	Het
Ctif	G	T	18: 75,654,868 (GRCm39)	H219Q	probably benign	Het
Ddx10	A	T	9: 53,146,588 (GRCm39)	F211L	probably damaging	Het
Dhrs2	A	T	14: 55,473,538 (GRCm39)	I66F	possibly damaging	Het
Dmtf1	A	T	5: 9,179,168 (GRCm39)	D343E	probably damaging	Het
Dync2i1	C	T	12: 116,205,332 (GRCm39)	R419H	probably damaging	Het
Fam120b	A	T	17: 15,622,472 (GRCm39)	Q150L	probably damaging	Het
Fam217a	G	A	13: 35,095,033 (GRCm39)	P242L	probably benign	Het
Gcnt2	A	G	13: 41,072,229 (GRCm39)	T291A	probably damaging	Het
Gm14305	T	G	2: 176,413,213 (GRCm39)	C368W	possibly damaging	Het
Gpr158	A	G	2: 21,404,149 (GRCm39)	D307G	probably damaging	Het
Hcls1	A	G	16: 36,777,663 (GRCm39)	M261V	probably benign	Het
Hmcn1	A	G	1: 150,540,636 (GRCm39)	M2891T	probably benign	Het
Ighv1-31	A	T	12: 114,793,305 (GRCm39)	W5R	possibly damaging	Het
Impg2	A	G	16: 56,079,818 (GRCm39)	T541A	probably damaging	Het
Ints1	A	T	5: 139,744,952 (GRCm39)	L1452Q	probably benign	Het
Kcnc2	T	A	10: 112,292,437 (GRCm39)	S542T	probably benign	Het
Lactbl1	T	G	4: 136,358,329 (GRCm39)	L100R	possibly damaging	Het
Loxl3	T	C	6: 83,025,051 (GRCm39)	S260P	probably benign	Het
Lrba	A	T	3: 86,549,976 (GRCm39)	Y2315F	probably benign	Het
Lrrc32	A	T	7: 98,148,270 (GRCm39)	N350I	probably damaging	Het
Lyn	C	A	4: 3,783,055 (GRCm39)	F429L	probably damaging	Het
Matk	A	G	10: 81,098,294 (GRCm39)	K402E	probably damaging	Het
Mau2	T	C	8: 70,485,845 (GRCm39)	E121G	possibly damaging	Het
Mrgprx2	A	G	7: 48,132,299 (GRCm39)	L173P	probably damaging	Het
Mroh1	A	G	15: 76,298,496 (GRCm39)	T369A	possibly damaging	Het
Myh6	A	G	14: 55,187,357 (GRCm39)	L1308P	possibly damaging	Het
Nbeal2	T	C	9: 110,459,873 (GRCm39)	D1895G	probably benign	Het
Ncr1	A	G	7: 4,340,763 (GRCm39)	T6A	probably benign	Het
Neb	T	A	2: 52,078,785 (GRCm39)	E5819D	probably benign	Het
Neurod4	T	C	10: 130,106,948 (GRCm39)	N109D	probably damaging	Het
Nsd2	A	T	5: 34,000,485 (GRCm39)	M1L	probably benign	Het
Nwd2	A	G	5: 63,882,540 (GRCm39)	Y64C	probably damaging	Het
Olfm2	T	A	9: 20,579,501 (GRCm39)	N417Y	probably damaging	Het
Oog3	T	A	4: 143,885,962 (GRCm39)	D212V	probably benign	Het
Or13c25	T	A	4: 52,911,693 (GRCm39)	M34L	probably benign	Het
Or5p1	A	T	7: 107,916,296 (GRCm39)	H65L	probably damaging	Het
Parp1	A	G	1: 180,417,127 (GRCm39)	K637R	probably benign	Het
Pcdhga3	T	C	18: 37,807,865 (GRCm39)	L106P	probably damaging	Het
Pdk4	T	C	6: 5,494,962 (GRCm39)	N67S	possibly damaging	Het
Plcxd3	A	G	15: 4,546,250 (GRCm39)	T85A	probably benign	Het
Plxna1	T	C	6: 89,300,220 (GRCm39)	Y1621C	probably damaging	Het
Pnliprp1	T	A	19: 58,719,025 (GRCm39)	M108K	probably damaging	Het
Pou3f1	GCACCACCACCACCACCAC	GCACCACCACCACCAC	4: 124,552,807 (GRCm39)		probably benign	Het
Prl8a1	A	T	13: 27,758,011 (GRCm39)	C233S	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Sgo2a	T	A	1: 58,056,616 (GRCm39)		probably benign	Het
Sh3tc1	A	T	5: 35,871,548 (GRCm39)	M328K	possibly damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc35e3	A	G	10: 117,580,798 (GRCm39)	Y169H	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Speer4a1	T	A	5: 26,241,754 (GRCm39)	H124L	probably benign	Het
Stab2	T	A	10: 86,735,685 (GRCm39)	T1299S	probably benign	Het
Tesmin	T	C	19: 3,445,965 (GRCm39)	V237A	probably benign	Het
Trappc11	A	T	8: 47,951,701 (GRCm39)	I984N	probably benign	Het
Ube2q2	G	A	9: 55,070,354 (GRCm39)		probably null	Het
Vmn1r169	A	G	7: 23,277,403 (GRCm39)	D265G	possibly damaging	Het
Vps13b	G	T	15: 35,422,483 (GRCm39)	V148L	possibly damaging	Het
Vwce	T	C	19: 10,615,491 (GRCm39)	V124A	probably benign	Het
Zc3h15	G	A	2: 83,491,787 (GRCm39)	R292H	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
R1597:Kif18a	UTSW	2	109,123,336 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCATTGCGTACATTCTCCTAC -3'
(R):5'- GTTACCTTCAGCAGCTAGGGAG -3'

Sequencing Primer
(F):5'- GCGTACATTCTCCTACTGAAATAG -3'
(R):5'- GAGGACATTTCTAACCTGAACTGGC -3'

Posted On

2021-04-30