Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Kif18a'

173428

Institutional Source

Beutler Lab

Gene Symbol

Kif18a

Ensembl Gene

ENSMUSG00000027115

Gene Name

kinesin family member 18A

Synonyms

gcd2, N-8 kinesin, B130001M12Rik

MMRRC Submission

039676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109111165-109172094 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109120161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 155 (T155A)

Ref Sequence

ENSEMBL: ENSMUSP00000028527 (fasta)

Gene Model

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

AlphaFold

Q91WD7

Predicted Effect

probably benign
Transcript: ENSMUST00000028527
AA Change: T155A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028527
Gene: ENSMUSG00000027115
AA Change: T155A

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

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,566,584 (GRCm39)	V279L	probably damaging	Het
Acot6	A	T	12: 84,147,900 (GRCm39)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,195,689 (GRCm39)	V284I	probably damaging	Het
Agl	A	T	3: 116,545,739 (GRCm39)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,573,943 (GRCm39)	P27S	probably benign	Het
C1ra	A	G	6: 124,499,233 (GRCm39)	N473S	probably benign	Het
C87436	T	C	6: 86,423,233 (GRCm39)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,164,021 (GRCm39)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,314,751 (GRCm39)		probably null	Het
Cerk	A	G	15: 86,033,601 (GRCm39)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,488,307 (GRCm39)	S570T	probably benign	Het
Chst14	T	A	2: 118,757,379 (GRCm39)	W83R	probably damaging	Het
Chsy1	A	T	7: 65,821,262 (GRCm39)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,190,198 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,496,460 (GRCm39)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,218,974 (GRCm39)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,702,289 (GRCm39)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,513,491 (GRCm39)	Y169H	unknown	Het
Cwc22	A	G	2: 77,745,874 (GRCm39)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,699,089 (GRCm39)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,833,483 (GRCm39)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,449,203 (GRCm39)	T67A	probably benign	Het
Drc1	A	G	5: 30,521,301 (GRCm39)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,531,264 (GRCm39)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm39)	Q8*	probably null	Het
Etv5	A	T	16: 22,254,664 (GRCm39)	D65E	probably damaging	Het
F2rl3	A	G	8: 73,489,534 (GRCm39)	R254G	probably benign	Het
Fabp5	T	G	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbrs	T	C	7: 127,086,483 (GRCm39)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,806 (GRCm39)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,285,634 (GRCm39)	S291A	possibly damaging	Het
Galnt13	A	G	2: 54,950,558 (GRCm39)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,914,337 (GRCm39)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,764,254 (GRCm39)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 90,135,679 (GRCm39)		noncoding transcript	Het
Gprc5a	T	G	6: 135,055,652 (GRCm39)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm39)	T121A	probably benign	Het
Grk3	A	G	5: 113,163,248 (GRCm39)	V33A	probably benign	Het
Hc	A	T	2: 34,947,336 (GRCm39)	Y59*	probably null	Het
Hrnr	A	G	3: 93,239,823 (GRCm39)	I3354V	unknown	Het
Hyou1	C	G	9: 44,300,703 (GRCm39)	T924S	probably benign	Het
Ifi209	T	G	1: 173,464,931 (GRCm39)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,438,171 (GRCm39)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,030,077 (GRCm39)	L328H	probably damaging	Het
Jkampl	A	G	6: 73,445,869 (GRCm39)	Y227H	probably benign	Het
Kmt2d	A	G	15: 98,742,938 (GRCm39)		probably benign	Het
Kri1	T	C	9: 21,191,753 (GRCm39)	D281G	possibly damaging	Het
Larp1b	T	A	3: 40,988,507 (GRCm39)	M1K	probably null	Het
Loxhd1	A	G	18: 77,490,259 (GRCm39)	D1225G	probably damaging	Het
Mzf1	A	G	7: 12,777,197 (GRCm39)	*736Q	probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,683,784 (GRCm39)	M1K	probably null	Het
Or5t15	T	A	2: 86,681,571 (GRCm39)	H157L	probably benign	Het
Or8h10	A	C	2: 86,808,963 (GRCm39)	M59R	probably damaging	Het
Parp12	T	C	6: 39,073,574 (GRCm39)	D417G	probably benign	Het
Parp12	T	C	6: 39,088,612 (GRCm39)	H208R	probably damaging	Het
Pcif1	T	C	2: 164,727,603 (GRCm39)	I132T	probably benign	Het
Pck2	A	G	14: 55,786,041 (GRCm39)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,617,123 (GRCm39)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,086,126 (GRCm39)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,548,231 (GRCm39)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,671,059 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,178 (GRCm39)	S711P	probably damaging	Het
Slc17a3	T	A	13: 24,036,340 (GRCm39)	L212*	probably null	Het
Slc4a8	A	G	15: 100,681,668 (GRCm39)	D41G	probably benign	Het
Slc9a3	T	A	13: 74,306,937 (GRCm39)	V354E	probably damaging	Het
Spen	A	G	4: 141,196,254 (GRCm39)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,192,914 (GRCm39)	S77G	probably benign	Het
Tet3	A	T	6: 83,346,297 (GRCm39)	V1245D	probably benign	Het
Tox4	T	A	14: 52,530,000 (GRCm39)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,180,759 (GRCm39)	Y193*	probably null	Het
Trio	T	C	15: 27,833,130 (GRCm39)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,569,514 (GRCm39)	T1404I	probably benign	Het
Usp47	T	C	7: 111,682,334 (GRCm39)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,593,548 (GRCm39)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,348 (GRCm39)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,824,097 (GRCm39)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,242,806 (GRCm39)		probably null	Het
Zfp503	A	T	14: 22,034,969 (GRCm39)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,229,530 (GRCm39)	C332G	probably damaging	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
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'- TGCTGCCTTTGATAGCGTTCCAATTT -3'
(R):5'- TCTCACAGAGACAAGACAAACTGAGGAT -3'

Sequencing Primer
(F):5'- CCACTAGAGGGGATTTACTAATGC -3'
(R):5'- acaacagagacagtgaataggag -3'

Posted On

2014-04-24