Mutagenetix > Incidental Mutation

Incidental Mutation 'R8090:Yif1b'

629891

Institutional Source

Beutler Lab

Gene Symbol

Yif1b

Ensembl Gene

ENSMUSG00000030588

Gene Name

Yip1 interacting factor homolog B (S. cerevisiae)

Synonyms

9430029K10Rik

MMRRC Submission

067523-MU

Accession Numbers

Essential gene?

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

Stock #

R8090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28937754-28947022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28943726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 93 (N93S)

Ref Sequence

ENSEMBL: ENSMUSP00000103873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032808] [ENSMUST00000032809] [ENSMUST00000108237] [ENSMUST00000108238] [ENSMUST00000138128] [ENSMUST00000142519]

AlphaFold

Q9CX30

Predicted Effect

probably benign
Transcript: ENSMUST00000032808

SMART Domains

Protein: ENSMUSP00000032808
Gene: ENSMUSG00000030587

Domain	Start	End	E-Value	Type
Pfam:IMUP	1	114	1.8e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032809
AA Change: N96S

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032809
Gene: ENSMUSG00000030588
AA Change: N96S

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

possibly damaging
Transcript: ENSMUST00000108237
AA Change: N88S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103872
Gene: ENSMUSG00000030588
AA Change: N88S

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

probably benign
Transcript: ENSMUST00000108238
AA Change: N93S

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103873
Gene: ENSMUSG00000030588
AA Change: N93S

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

SMART Domains

Protein: ENSMUSP00000117224
Gene: ENSMUSG00000030588
AA Change: N108S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142519
AA Change: N100S

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 92.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

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

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	T	C	11: 116,487,017 (GRCm39)	C75R	probably damaging	Het
Ackr2	A	G	9: 121,738,045 (GRCm39)	D140G	possibly damaging	Het
Adgrv1	C	A	13: 81,596,953 (GRCm39)		probably null	Het
Arpp21	A	G	9: 111,945,769 (GRCm39)	L593S	unknown	Het
Atn1	G	A	6: 124,722,304 (GRCm39)	P850S	unknown	Het
Capn13	G	A	17: 73,689,849 (GRCm39)	S54L	probably benign	Het
Cd1d2	C	T	3: 86,893,964 (GRCm39)	P5S	possibly damaging	Het
Cgn	A	G	3: 94,687,263 (GRCm39)	V13A	probably damaging	Het
Clint1	T	C	11: 45,778,267 (GRCm39)	V136A	probably damaging	Het
Cox5a	T	A	9: 57,436,346 (GRCm39)	L66M	probably damaging	Het
Crb2	G	T	2: 37,685,503 (GRCm39)	C1205F	probably damaging	Het
Ddx3y	C	T	Y: 1,264,897 (GRCm39)	S519N	probably benign	Het
Defb50	G	A	8: 22,321,087 (GRCm39)	G26S	probably damaging	Het
Dock8	T	C	19: 25,131,606 (GRCm39)	L1112P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Gm9837	A	G	11: 53,361,065 (GRCm39)	S50P	unknown	Het
Gon4l	A	G	3: 88,799,931 (GRCm39)	I859V	probably damaging	Het
Grin3a	A	T	4: 49,714,224 (GRCm39)	D840E	probably damaging	Het
Ifit2	T	A	19: 34,550,662 (GRCm39)	N67K	possibly damaging	Het
Il17re	G	A	6: 113,439,250 (GRCm39)	W53*	probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Krt25	T	A	11: 99,207,416 (GRCm39)		probably null	Het
Krt26	T	C	11: 99,227,315 (GRCm39)	M171V	probably benign	Het
Lrba	T	C	3: 86,255,796 (GRCm39)	L1046S	probably benign	Het
Lrp2	G	T	2: 69,295,089 (GRCm39)	P3410T	possibly damaging	Het
Madd	T	C	2: 90,985,968 (GRCm39)	K1241R	probably benign	Het
Mcm8	T	G	2: 132,673,569 (GRCm39)	S402A	probably benign	Het
Mpc1	A	C	17: 8,515,705 (GRCm39)	Q74H	probably benign	Het
Mroh4	A	G	15: 74,496,550 (GRCm39)	V279A	probably benign	Het
Muc21	G	C	17: 35,932,617 (GRCm39)	T523S	unknown	Het
Ndufs2	A	T	1: 171,064,247 (GRCm39)	H380Q	probably damaging	Het
Nkx2-6	T	C	14: 69,409,465 (GRCm39)	L72P	possibly damaging	Het
Nme6	T	A	9: 109,671,019 (GRCm39)	L73*	probably null	Het
Odf2l	G	T	3: 144,832,796 (GRCm39)	A85S	probably damaging	Het
Or51ac3	A	T	7: 103,214,048 (GRCm39)	I146K	probably benign	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Plpp6	C	T	19: 28,942,271 (GRCm39)	Q291*	probably null	Het
Plxnd1	G	A	6: 115,933,578 (GRCm39)	A1855V	probably damaging	Het
Ptcd1	A	T	5: 145,096,345 (GRCm39)	H249Q	possibly damaging	Het
Rnf149	C	A	1: 39,616,304 (GRCm39)	A18S	unknown	Het
Scara5	C	T	14: 65,979,586 (GRCm39)	R368*	probably null	Het
Sfmbt2	G	A	2: 10,466,190 (GRCm39)	D342N	probably benign	Het
Shank3	T	A	15: 89,389,661 (GRCm39)		probably null	Het
Slc22a27	A	G	19: 7,843,101 (GRCm39)		probably null	Het
Srgap3	G	T	6: 112,757,996 (GRCm39)	Y170*	probably null	Het
Szt2	A	T	4: 118,244,199 (GRCm39)		probably null	Het
Tbccd1	A	G	16: 22,660,805 (GRCm39)	S4P	probably benign	Het
Tcf20	A	G	15: 82,740,207 (GRCm39)	S415P	probably damaging	Het
Tdrd9	T	C	12: 111,982,369 (GRCm39)	S487P	probably damaging	Het
Trim26	A	G	17: 37,167,640 (GRCm39)	Q300R	possibly damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zdhhc22	C	A	12: 87,030,394 (GRCm39)	V185F	probably benign	Het
Zfp638	G	T	6: 83,906,801 (GRCm39)	S322I	probably damaging	Het
Zfp786	T	A	6: 47,796,943 (GRCm39)	H665L	probably damaging	Het
Zfp799	C	T	17: 33,039,949 (GRCm39)	V106I	probably benign	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
R3607: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
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'- TTCTCTCCGCAGCCTCAAAG -3'
(R):5'- TCTTGCCCACATACACCGTG -3'

Sequencing Primer
(F):5'- AGTGTCCCAACCAGGCATG -3'
(R):5'- CCGTGTCCACTGCAAAGTAATACTTG -3'

Posted On

2020-06-30