Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03067:Yif1a'

409731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Yif1a

Ensembl Gene

ENSMUSG00000024875

Gene Name

Yip1 interacting factor homolog A (S. cerevisiae)

Synonyms

54TM, 5330422J23Rik, Yif1p

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

IGL03067

Quality Score

Status

Chromosome

Chromosomal Location

5138566-5142907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5139813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000025811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025805] [ENSMUST00000025811] [ENSMUST00000077066] [ENSMUST00000140389] [ENSMUST00000151413]

AlphaFold

Q91XB7

Predicted Effect

probably benign
Transcript: ENSMUST00000025805

SMART Domains

Protein: ENSMUSP00000025805
Gene: ENSMUSG00000024873

Domain	Start	End	E-Value	Type
Pfam:Cornichon	7	151	5.3e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025811
AA Change: V86A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025811
Gene: ENSMUSG00000024875
AA Change: V86A

Domain	Start	End	E-Value	Type
Pfam:YIF1	57	286	8.3e-84	PFAM
Pfam:Yip1	113	255	9.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077066

SMART Domains

Protein: ENSMUSP00000076321
Gene: ENSMUSG00000061451

Domain	Start	End	E-Value	Type
Pfam:TMEM151	26	373	8.6e-179	PFAM
low complexity region	420	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136372

Predicted Effect

probably benign
Transcript: ENSMUST00000140389

Predicted Effect

probably benign
Transcript: ENSMUST00000151413

SMART Domains

Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,900,909 (GRCm39)	D1162E	probably benign	Het
Abhd2	T	C	7: 79,009,782 (GRCm39)	F386L	probably benign	Het
Adamts6	C	T	13: 104,433,783 (GRCm39)	R71W	probably damaging	Het
Adgrv1	T	C	13: 81,590,599 (GRCm39)	Y4403C	probably damaging	Het
Aldoart1	A	T	4: 72,770,194 (GRCm39)	C205S	possibly damaging	Het
Ap2a1	C	A	7: 44,552,935 (GRCm39)	A711S	probably benign	Het
Arhgef28	A	G	13: 98,124,794 (GRCm39)	I496T	probably benign	Het
Cyp27a1	A	G	1: 74,771,068 (GRCm39)		probably null	Het
Cyp2c69	C	T	19: 39,869,537 (GRCm39)	G161S	probably benign	Het
Dpy19l1	A	G	9: 24,349,956 (GRCm39)	V428A	probably benign	Het
Foxk2	C	T	11: 121,176,394 (GRCm39)	T180M	possibly damaging	Het
Gm3402	C	A	5: 146,451,399 (GRCm39)	H86N	possibly damaging	Het
Gm3543	A	G	14: 41,802,830 (GRCm39)		probably benign	Het
Gnai3	T	C	3: 108,025,609 (GRCm39)		probably benign	Het
Hmcn2	C	T	2: 31,236,642 (GRCm39)	P395L	probably damaging	Het
Igsf10	T	C	3: 59,226,339 (GRCm39)	I2445V	probably benign	Het
Il10ra	T	C	9: 45,167,157 (GRCm39)	T465A	probably benign	Het
Itpr2	G	A	6: 146,226,680 (GRCm39)	L1322F	probably damaging	Het
Man1b1	T	C	2: 25,239,344 (GRCm39)	Y536H	probably benign	Het
P3h1	A	G	4: 119,092,477 (GRCm39)	H170R	probably damaging	Het
Pakap	A	T	4: 57,648,038 (GRCm39)	T59S	probably benign	Het
Parp14	A	G	16: 35,676,878 (GRCm39)	V1030A	probably benign	Het
Pdzd2	A	G	15: 12,388,628 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,821,843 (GRCm39)	Y264C	probably damaging	Het
Ptprf	A	G	4: 118,067,910 (GRCm39)	V1799A	possibly damaging	Het
Rap1gap2	A	G	11: 74,284,238 (GRCm39)	S649P	possibly damaging	Het
Rasgrf2	T	C	13: 92,159,413 (GRCm39)	M426V	probably damaging	Het
Rpl9	A	G	5: 65,548,191 (GRCm39)	I18T	possibly damaging	Het
Slc6a19	C	A	13: 73,837,849 (GRCm39)	E217*	probably null	Het
Smtn	C	A	11: 3,480,165 (GRCm39)	R352L	possibly damaging	Het
Supv3l1	C	A	10: 62,265,600 (GRCm39)	D647Y	probably damaging	Het
Sv2a	A	G	3: 96,092,498 (GRCm39)	Y66C	probably damaging	Het
Upk1b	A	G	16: 38,605,272 (GRCm39)	I107T	probably damaging	Het
Zfp820	T	C	17: 22,038,801 (GRCm39)	T176A	possibly damaging	Het

Other mutations in Yif1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01987:Yif1a	APN	19	5,141,625 (GRCm39)	missense	probably benign
IGL03070:Yif1a	APN	19	5,138,757 (GRCm39)	missense	possibly damaging	0.51
R1817:Yif1a	UTSW	19	5,142,333 (GRCm39)	nonsense	probably null
R2027:Yif1a	UTSW	19	5,139,900 (GRCm39)	missense	probably damaging	1.00
R5639:Yif1a	UTSW	19	5,138,778 (GRCm39)	critical splice donor site	probably null
R5942:Yif1a	UTSW	19	5,141,669 (GRCm39)	missense	probably damaging	1.00
R6360:Yif1a	UTSW	19	5,142,369 (GRCm39)	missense	probably benign
R6524:Yif1a	UTSW	19	5,142,204 (GRCm39)	missense	probably damaging	1.00
R7378:Yif1a	UTSW	19	5,139,818 (GRCm39)	missense	possibly damaging	0.83
R7976:Yif1a	UTSW	19	5,139,815 (GRCm39)	missense	probably damaging	1.00
Z1177:Yif1a	UTSW	19	5,141,615 (GRCm39)	frame shift	probably null

Posted On

2016-08-02