Mutagenetix > Incidental Mutation

Incidental Mutation 'R3607:Yif1b'

269112

Institutional Source

Beutler Lab

Gene Symbol

Yif1b

Ensembl Gene

ENSMUSG00000030588

Gene Name

Yip1 interacting factor homolog B (S. cerevisiae)

Synonyms

9430029K10Rik

MMRRC Submission

040671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3607 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28937754-28947022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28937835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 7 (A7V)

Ref Sequence

ENSEMBL: ENSMUSP00000103873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]

AlphaFold

Q9CX30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032809
AA Change: A7V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588
AA Change: A7V

Domain	Start	End	E-Value	Type
low complexity region	45	65	N/A	INTRINSIC
Pfam:YIF1	72	304	5.7e-86	PFAM
Pfam:Yip1	110	282	7.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108237

SMART Domains

Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	37	57	N/A	INTRINSIC
Pfam:YIF1	64	176	3.9e-48	PFAM
Pfam:YIF1	169	244	2.5e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108238
AA Change: A7V

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588
AA Change: A7V

Domain	Start	End	E-Value	Type
low complexity region	42	62	N/A	INTRINSIC
Pfam:YIF1	66	303	5.4e-107	PFAM
Pfam:Yip1	107	279	7.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138128

SMART Domains

Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588

Domain	Start	End	E-Value	Type
low complexity region	42	62	N/A	INTRINSIC
low complexity region	100	110	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142519

Meta Mutation Damage Score

0.1060

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (48/49)

Allele List at MGI

All alleles(19) : Targeted(3) Gene trapped(16)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	C	A	9: 53,191,083 (GRCm39)		noncoding transcript	Het
Adnp2	A	T	18: 80,172,284 (GRCm39)	N708K	probably damaging	Het
Arhgef17	C	A	7: 100,580,379 (GRCm39)	G190W	probably damaging	Het
Aspm	T	A	1: 139,408,406 (GRCm39)	M2431K	probably benign	Het
Aurkc	A	G	7: 7,005,859 (GRCm39)	Y157C	probably damaging	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Etv1	A	G	12: 38,881,085 (GRCm39)	Y66C	probably damaging	Het
F830016B08Rik	A	T	18: 60,433,780 (GRCm39)	K288*	probably null	Het
Fam131a	C	T	16: 20,520,345 (GRCm39)	P181L	probably damaging	Het
Fat2	T	A	11: 55,172,511 (GRCm39)	E2734V	probably damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gmfg	T	A	7: 28,140,961 (GRCm39)		probably null	Het
Gtpbp8	T	C	16: 44,564,119 (GRCm39)	Y184C	probably damaging	Het
Heatr5b	T	C	17: 79,141,646 (GRCm39)	E2G	probably damaging	Het
Itpr2	T	G	6: 146,129,099 (GRCm39)	T2005P	probably damaging	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kng1	T	C	16: 22,886,552 (GRCm39)	F112L	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lpin2	T	A	17: 71,536,387 (GRCm39)	D225E	probably damaging	Het
Myom2	T	C	8: 15,119,775 (GRCm39)	V177A	probably damaging	Het
Nkrf	T	G	X: 36,153,730 (GRCm39)	N184T	probably benign	Het
Nt5c1b	A	G	12: 10,427,236 (GRCm39)	N329D	probably damaging	Het
Ogdhl	T	A	14: 32,057,318 (GRCm39)	V308E	probably damaging	Het
Or14a258	A	G	7: 86,034,903 (GRCm39)	C322R	probably benign	Het
Pcnx1	T	A	12: 81,975,066 (GRCm39)	F791I	probably damaging	Het
Prkg2	G	T	5: 99,095,236 (GRCm39)	T616K	probably damaging	Het
Psmd3	C	T	11: 98,581,780 (GRCm39)	R302W	probably damaging	Het
Ptpn1	A	G	2: 167,817,427 (GRCm39)	S355G	probably benign	Het
Pxdn	A	G	12: 30,040,917 (GRCm39)	N398D	probably benign	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rgl3	A	G	9: 21,898,987 (GRCm39)	S151P	probably damaging	Het
Rnf213	C	A	11: 119,332,802 (GRCm39)	C2670*	probably null	Het
Tex16	T	A	X: 111,003,667 (GRCm39)	S159T	probably damaging	Het
Tnfaip3	A	G	10: 18,881,350 (GRCm39)	I312T	probably damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Trpm7	T	C	2: 126,638,348 (GRCm39)		probably benign	Het
Usp11	T	G	X: 20,580,871 (GRCm39)	F426L	probably damaging	Het
Vcan	G	T	13: 89,851,420 (GRCm39)	T1180K	probably damaging	Het
Wasf1	G	C	10: 40,812,380 (GRCm39)	A390P	unknown	Het

Other mutations in Yif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03172:Yif1b	APN	7	28,937,873 (GRCm39)	splice site	probably null
P0027:Yif1b	UTSW	7	28,938,038 (GRCm39)	critical splice donor site	probably null
R3605:Yif1b	UTSW	7	28,937,835 (GRCm39)	missense	possibly damaging	0.85
R5244:Yif1b	UTSW	7	28,943,866 (GRCm39)	missense	probably damaging	1.00
R5432:Yif1b	UTSW	7	28,945,393 (GRCm39)	missense	probably damaging	0.99
R6221:Yif1b	UTSW	7	28,945,207 (GRCm39)	missense	possibly damaging	0.71
R7779:Yif1b	UTSW	7	28,945,328 (GRCm39)	missense	probably damaging	1.00
R7856:Yif1b	UTSW	7	28,944,045 (GRCm39)	missense	possibly damaging	0.59
R8090:Yif1b	UTSW	7	28,943,726 (GRCm39)	missense	probably benign	0.44
R8749:Yif1b	UTSW	7	28,946,690 (GRCm39)	missense	probably benign	0.07
T0722:Yif1b	UTSW	7	28,938,038 (GRCm39)	critical splice donor site	probably null
U24488:Yif1b	UTSW	7	28,943,594 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTATGTAAGCCGACGCC -3'
(R):5'- TTAAAGAACCTACCCGCGATGC -3'

Sequencing Primer
(F):5'- TTATGTAAGCCGACGCCCACTC -3'
(R):5'- TACCCGGACTTGGCATCC -3'

Posted On

2015-02-19