Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Yipf3'

160271

Institutional Source

Beutler Lab

Gene Symbol

Yipf3

Ensembl Gene

ENSMUSG00000071074

Gene Name

Yip1 domain family, member 3

Synonyms

D17Wsu94e

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46559019-46563474 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46562372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 285 (F285S)

Ref Sequence

ENSEMBL: ENSMUSP00000092897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095262] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000173232] [ENSMUST00000173349] [ENSMUST00000142706]

AlphaFold

Q3UDR8

Predicted Effect

probably benign
Transcript: ENSMUST00000087026

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	339	4.53e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095262

SMART Domains

Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073

Domain	Start	End	E-Value	Type
LRR	27	54	2.42e1	SMART
LRR	84	111	3.47e1	SMART
LRR	112	139	1.84e0	SMART
LRR	143	171	1.66e2	SMART
LRR	172	199	5.41e0	SMART
LRR	200	227	3.54e0	SMART
LRR	229	256	5.48e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095263
AA Change: F285S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074
AA Change: F285S

Domain	Start	End	E-Value	Type
low complexity region	59	75	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	272	294	N/A	INTRINSIC
low complexity region	320	332	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123311
AA Change: F190S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074
AA Change: F190S

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124126

Predicted Effect

probably benign
Transcript: ENSMUST00000124655

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	1	253	2.14e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127378

SMART Domains

Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
Pfam:Yip1	30	178	4.6e-13	PFAM
low complexity region	189	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151488

Predicted Effect

probably benign
Transcript: ENSMUST00000173232

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	61	100	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173349

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	42	170	2.3e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142706

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	255	9.13e-47	SMART

Meta Mutation Damage Score

0.6447

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Nvl	A	T	1: 180,924,691 (GRCm39)		probably benign	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	Het

Other mutations in Yipf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Yipf3	APN	17	46,561,383 (GRCm39)	critical splice donor site	probably null
IGL02469:Yipf3	APN	17	46,561,384 (GRCm39)	critical splice donor site	probably null
IGL02836:Yipf3	APN	17	46,562,520 (GRCm39)	missense	possibly damaging	0.63
R0077:Yipf3	UTSW	17	46,562,503 (GRCm39)	missense	probably benign	0.42
R0334:Yipf3	UTSW	17	46,559,238 (GRCm39)	missense	possibly damaging	0.93
R0398:Yipf3	UTSW	17	46,562,411 (GRCm39)	missense	possibly damaging	0.86
R1163:Yipf3	UTSW	17	46,562,155 (GRCm39)	critical splice donor site	probably null
R1556:Yipf3	UTSW	17	46,561,793 (GRCm39)	missense	probably damaging	1.00
R1588:Yipf3	UTSW	17	46,561,787 (GRCm39)	missense	possibly damaging	0.96
R7238:Yipf3	UTSW	17	46,562,585 (GRCm39)	missense	probably benign
R7347:Yipf3	UTSW	17	46,561,753 (GRCm39)	missense	probably damaging	0.99
R7355:Yipf3	UTSW	17	46,561,566 (GRCm39)	missense	probably damaging	0.97
R7366:Yipf3	UTSW	17	46,559,855 (GRCm39)	missense	possibly damaging	0.93
R7840:Yipf3	UTSW	17	46,561,790 (GRCm39)	missense	probably benign	0.28
R9124:Yipf3	UTSW	17	46,559,895 (GRCm39)	missense	probably benign
R9223:Yipf3	UTSW	17	46,559,798 (GRCm39)	missense	probably damaging	1.00
RF026:Yipf3	UTSW	17	46,559,898 (GRCm39)	unclassified	probably benign
RF035:Yipf3	UTSW	17	46,559,898 (GRCm39)	unclassified	probably benign
RF039:Yipf3	UTSW	17	46,559,898 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGCTGTCTGCCCCACAAAGAG -3'
(R):5'- TTTCAGAGAGGGTCAATGTGACTGC -3'

Sequencing Primer
(F):5'- GCTCTAGAAGGATGCACTGAC -3'
(R):5'- GCAGAGTCACTGCTATTGCC -3'

Posted On

2014-03-14