Mutagenetix > Incidental Mutation

Incidental Mutation 'R5353:Yipf2'

423910

Institutional Source

Beutler Lab

Gene Symbol

Yipf2

Ensembl Gene

ENSMUSG00000032182

Gene Name

Yip1 domain family, member 2

Synonyms

1300010K09Rik

MMRRC Submission

042932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R5353 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21499978-21504124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21503228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 80 (Y80H)

Ref Sequence

ENSEMBL: ENSMUSP00000136463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034700] [ENSMUST00000034703] [ENSMUST00000062125] [ENSMUST00000078572] [ENSMUST00000115394] [ENSMUST00000115395] [ENSMUST00000130032] [ENSMUST00000180365] [ENSMUST00000213809]

AlphaFold

Q99LP8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034700
AA Change: Y80H

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034700
Gene: ENSMUSG00000032182
AA Change: Y80H

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034703

SMART Domains

Protein: ENSMUSP00000034703
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.1e-71	PFAM
Pfam:PRMT5	144	447	2.3e-16	PFAM
Pfam:MTS	166	308	2.7e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	173	287	2.2e-12	PFAM
Pfam:Methyltransf_31	183	325	7.4e-11	PFAM
Pfam:Methyltransf_18	185	290	5.1e-12	PFAM
Pfam:Methyltransf_26	186	287	5.3e-10	PFAM
Pfam:Methyltransf_11	190	287	8.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	562	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062125

SMART Domains

Protein: ENSMUSP00000058283
Gene: ENSMUSG00000048429

Domain	Start	End	E-Value	Type
Pfam:DUF2366	26	192	2.1e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078572
AA Change: Y80H

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077649
Gene: ENSMUSG00000032182
AA Change: Y80H

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115394

SMART Domains

Protein: ENSMUSP00000111052
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	29	140	4.7e-63	PFAM
Pfam:PRMT5	145	447	4.1e-16	PFAM
Pfam:Methyltransf_9	168	318	1.4e-9	PFAM
Pfam:MTS	170	299	2.5e-9	PFAM
Pfam:PrmA	175	287	3.7e-12	PFAM
Pfam:Methyltransf_31	183	326	1.9e-10	PFAM
Pfam:Methyltransf_18	185	290	4e-9	PFAM
Pfam:Methyltransf_11	190	287	6.5e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115395

SMART Domains

Protein: ENSMUSP00000111053
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2e-71	PFAM
Pfam:PRMT5	144	447	2.1e-16	PFAM
Pfam:MTS	166	308	2.6e-10	PFAM
Pfam:Methyltransf_9	168	318	1.1e-9	PFAM
Pfam:PrmA	172	287	2.1e-12	PFAM
Pfam:Methyltransf_31	183	326	6.9e-11	PFAM
Pfam:Methyltransf_18	185	290	4.8e-12	PFAM
Pfam:Methyltransf_26	186	287	5e-10	PFAM
Pfam:Methyltransf_11	190	287	8.1e-7	PFAM
low complexity region	477	494	N/A	INTRINSIC
low complexity region	540	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130032

SMART Domains

Protein: ENSMUSP00000117243
Gene: ENSMUSG00000032185

Domain	Start	End	E-Value	Type
Pfam:CARM1	27	140	2.8e-73	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180365
AA Change: Y80H

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136463
Gene: ENSMUSG00000032182
AA Change: Y80H

Domain	Start	End	E-Value	Type
Pfam:Yip1	84	272	1.5e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154049

Predicted Effect

probably benign
Transcript: ENSMUST00000216160

Predicted Effect

probably benign
Transcript: ENSMUST00000213809

Meta Mutation Damage Score

0.4027

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,934,470 (GRCm39)	S649P	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts1	T	A	16: 85,599,496 (GRCm39)	M35L	probably benign	Het
Adgrg3	A	T	8: 95,762,556 (GRCm39)	H202L	probably damaging	Het
Anln	G	T	9: 22,271,813 (GRCm39)	R681S	probably damaging	Het
Aprt	A	T	8: 123,302,147 (GRCm39)	M1K	probably null	Het
Arid3b	G	T	9: 57,702,320 (GRCm39)		probably null	Het
Cbl	A	G	9: 44,084,620 (GRCm39)	F172L	probably damaging	Het
Cd109	G	T	9: 78,617,521 (GRCm39)	V1340L	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chrm3	A	G	13: 9,928,593 (GRCm39)	Y148H	probably damaging	Het
Cog7	A	C	7: 121,540,470 (GRCm39)		probably null	Het
Cpsf1	A	T	15: 76,486,771 (GRCm39)	I255N	probably damaging	Het
Crebzf	G	A	7: 90,092,622 (GRCm39)	G134R	probably damaging	Het
Crybg1	T	C	10: 43,849,661 (GRCm39)	S1705G	probably damaging	Het
Dock6	A	T	9: 21,726,082 (GRCm39)	H1409Q	probably benign	Het
Fank1	A	G	7: 133,478,632 (GRCm39)	D232G	probably damaging	Het
Fat1	G	T	8: 45,489,168 (GRCm39)	V3480L	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	T	1: 174,330,572 (GRCm39)	G321W	unknown	Het
Greb1	A	T	12: 16,738,567 (GRCm39)	Y1465*	probably null	Het
Hdac9	G	A	12: 34,443,392 (GRCm39)	Q330*	probably null	Het
Kcnt2	C	T	1: 140,354,639 (GRCm39)	T298I	probably damaging	Het
Knl1	A	G	2: 118,901,464 (GRCm39)	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,946,660 (GRCm39)	S487P	probably damaging	Het
Naa38	G	A	11: 69,287,408 (GRCm39)	V110I	probably benign	Het
Nkd2	T	C	13: 73,969,557 (GRCm39)	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125 (GRCm38)	C49R	probably benign	Het
Or4c111	A	G	2: 88,844,099 (GRCm39)	V103A	probably benign	Het
Or52b2	A	G	7: 104,986,324 (GRCm39)	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,393,631 (GRCm39)	E165V	probably damaging	Het
Phyh	A	T	2: 4,947,012 (GRCm39)		probably benign	Het
Pik3r4	G	A	9: 105,545,137 (GRCm39)		probably null	Het
Ppip5k1	A	C	2: 121,142,201 (GRCm39)	V1416G	probably benign	Het
Ppm1b	T	C	17: 85,301,537 (GRCm39)	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,097,077 (GRCm39)		probably null	Het
Pramel20	A	G	4: 143,297,807 (GRCm39)	T76A	probably benign	Het
Psmc5	G	T	11: 106,152,327 (GRCm39)	A115S	probably damaging	Het
Ptpn5	T	A	7: 46,731,642 (GRCm39)	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235 (GRCm38)		probably benign	Het
Qrich1	G	T	9: 108,422,164 (GRCm39)	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,385,741 (GRCm39)	I175V	probably benign	Het
Selenot	T	C	3: 58,493,387 (GRCm39)	F88S	possibly damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spred2	A	G	11: 19,968,155 (GRCm39)	D208G	possibly damaging	Het
Surf1	T	C	2: 26,804,204 (GRCm39)	T197A	probably benign	Het
Taco1	G	A	11: 105,963,539 (GRCm39)		probably null	Het
Tas2r109	A	G	6: 132,957,594 (GRCm39)	V112A	possibly damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Uggt2	A	G	14: 119,319,182 (GRCm39)	I280T	probably benign	Het
Zscan12	T	C	13: 21,548,178 (GRCm39)	V120A	possibly damaging	Het

Other mutations in Yipf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Yipf2	APN	9	21,503,820 (GRCm39)	splice site	probably null
IGL02221:Yipf2	APN	9	21,502,764 (GRCm39)	missense	possibly damaging	0.60
IGL02559:Yipf2	APN	9	21,503,482 (GRCm39)	missense	probably damaging	0.96
IGL03055:Yipf2	UTSW	9	21,501,019 (GRCm39)	missense	probably benign	0.00
R0089:Yipf2	UTSW	9	21,503,262 (GRCm39)	missense	possibly damaging	0.89
R0113:Yipf2	UTSW	9	21,501,412 (GRCm39)	missense	probably damaging	0.98
R0725:Yipf2	UTSW	9	21,503,519 (GRCm39)	splice site	probably null
R2294:Yipf2	UTSW	9	21,501,177 (GRCm39)	missense	probably damaging	1.00
R3154:Yipf2	UTSW	9	21,501,197 (GRCm39)	missense	probably benign	0.01
R3428:Yipf2	UTSW	9	21,500,941 (GRCm39)	intron	probably benign
R4956:Yipf2	UTSW	9	21,503,204 (GRCm39)	missense	probably damaging	1.00
R5490:Yipf2	UTSW	9	21,503,487 (GRCm39)	missense	probably benign	0.10
R6599:Yipf2	UTSW	9	21,501,144 (GRCm39)	missense	probably damaging	0.98
R7050:Yipf2	UTSW	9	21,503,474 (GRCm39)	missense	probably benign	0.00
R7206:Yipf2	UTSW	9	21,501,657 (GRCm39)	missense	probably damaging	1.00
R8271:Yipf2	UTSW	9	21,501,291 (GRCm39)	missense	probably damaging	1.00
R9267:Yipf2	UTSW	9	21,501,489 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TTGACTGGGAAACATTCTGGC -3'
(R):5'- AAGTGATGAGCTGACCTCCC -3'

Sequencing Primer
(F):5'- CTGGGAAACATTCTGGCTTTAAGTC -3'
(R):5'- ATGAGCTGACCTCCCGAGAG -3'

Posted On

2016-08-04