Mutagenetix > Incidental Mutation

Incidental Mutation 'R0581:Yipf7'

216116

Institutional Source

Beutler Lab

Gene Symbol

Yipf7

Ensembl Gene

ENSMUSG00000029158

Gene Name

Yip1 domain family, member 7

Synonyms

Yip1b, 2310016N21Rik

MMRRC Submission

038771-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0581 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69674013-69699990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69678406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 128 (I128F)

Ref Sequence

ENSEMBL: ENSMUSP00000031045 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031045] [ENSMUST00000202423]

AlphaFold

Q9JIM5

Predicted Effect

probably benign
Transcript: ENSMUST00000031045
AA Change: I128F

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000031045
Gene: ENSMUSG00000029158
AA Change: I128F

Domain	Start	End	E-Value	Type
Pfam:Yip1	93	253	4.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202423
AA Change: I75F

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0831

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.3%
20x: 93.7%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,100,620 (GRCm39)	T2761A	probably benign	Het
Apold1	G	A	6: 134,960,776 (GRCm39)	V77I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Cacna1a	A	T	8: 85,328,565 (GRCm39)	I1668F	possibly damaging	Het
Ccer2	T	A	7: 28,456,451 (GRCm39)		probably benign	Het
Cyp2c54	T	A	19: 40,035,999 (GRCm39)	T304S	probably benign	Het
Dpp4	T	A	2: 62,187,020 (GRCm39)	M497L	probably benign	Het
Evpl	T	A	11: 116,120,316 (GRCm39)	I541L	probably benign	Het
Ggn	A	G	7: 28,871,729 (GRCm39)	T370A	probably benign	Het
Ghr	A	G	15: 3,418,116 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Gpr68	G	C	12: 100,844,815 (GRCm39)	P243R	probably damaging	Het
Gtf3c2	G	T	5: 31,316,862 (GRCm39)	Y720*	probably null	Het
Il2rb	T	A	15: 78,366,136 (GRCm39)	Y387F	possibly damaging	Het
Kcnu1	T	A	8: 26,427,529 (GRCm39)	V282E	probably damaging	Het
Krt222	G	A	11: 99,127,018 (GRCm39)	Q201*	probably null	Het
Lats1	A	G	10: 7,578,705 (GRCm39)	T610A	possibly damaging	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,222,953 (GRCm39)	I751V	probably benign	Het
Mypn	A	G	10: 62,998,023 (GRCm39)	I429T	probably benign	Het
Nemf	A	T	12: 69,369,045 (GRCm39)	D723E	probably benign	Het
Nlrp4b	T	C	7: 10,448,457 (GRCm39)	L220P	probably damaging	Het
Npr3	T	A	15: 11,851,536 (GRCm39)	D418V	probably damaging	Het
Nsd3	A	G	8: 26,200,718 (GRCm39)	N1270S	probably damaging	Het
Or1j15	T	C	2: 36,458,834 (GRCm39)	S75P	probably damaging	Het
Or2g1	A	G	17: 38,106,993 (GRCm39)	I219M	probably damaging	Het
Otogl	G	A	10: 107,624,901 (GRCm39)	T1579I	possibly damaging	Het
Pkp2	T	A	16: 16,087,647 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,173,598 (GRCm39)	Y301C	probably damaging	Het
Psmb4	T	C	3: 94,793,479 (GRCm39)	H134R	probably damaging	Het
Ralgapb	A	G	2: 158,334,881 (GRCm39)	T1043A	probably benign	Het
Sec14l5	T	A	16: 4,996,349 (GRCm39)		probably null	Het
Serpina12	T	A	12: 103,997,399 (GRCm39)	Q374L	probably damaging	Het
Serpinb10	C	T	1: 107,474,692 (GRCm39)	R362*	probably null	Het
Sorcs1	T	A	19: 50,241,139 (GRCm39)	I416F	possibly damaging	Het
Sparcl1	T	C	5: 104,241,178 (GRCm39)	D82G	probably damaging	Het
Stat6	A	T	10: 127,483,985 (GRCm39)	Q89L	probably damaging	Het
Tat	A	G	8: 110,718,270 (GRCm39)	T52A	possibly damaging	Het
Zfp112	T	A	7: 23,825,288 (GRCm39)	C419S	probably damaging	Het
Zzef1	A	G	11: 72,742,726 (GRCm39)	I769V	probably benign	Het

Other mutations in Yipf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Yipf7	APN	5	69,676,660 (GRCm39)	missense	probably benign	0.13
IGL02829:Yipf7	APN	5	69,698,434 (GRCm39)	missense	probably benign	0.22
R2104:Yipf7	UTSW	5	69,678,462 (GRCm39)	missense	possibly damaging	0.92
R2697:Yipf7	UTSW	5	69,698,483 (GRCm39)	missense	possibly damaging	0.79
R4329:Yipf7	UTSW	5	69,678,465 (GRCm39)	missense	probably damaging	1.00
R4621:Yipf7	UTSW	5	69,676,704 (GRCm39)	missense	possibly damaging	0.79
R6103:Yipf7	UTSW	5	69,698,405 (GRCm39)	missense	probably benign
R6652:Yipf7	UTSW	5	69,698,504 (GRCm39)	start codon destroyed	probably null	1.00
R6823:Yipf7	UTSW	5	69,674,413 (GRCm39)	missense	probably damaging	1.00
R7674:Yipf7	UTSW	5	69,676,572 (GRCm39)	missense	probably damaging	0.99
R7796:Yipf7	UTSW	5	69,684,596 (GRCm39)	missense	possibly damaging	0.85
R8115:Yipf7	UTSW	5	69,684,570 (GRCm39)	missense	probably benign
R8284:Yipf7	UTSW	5	69,674,539 (GRCm39)	missense	probably benign	0.25
R8512:Yipf7	UTSW	5	69,674,387 (GRCm39)	missense	probably benign	0.03
R9646:Yipf7	UTSW	5	69,678,424 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- ATGGCTGGACTGCTGACTAGGAAG -3'
(R):5'- ATCTGACAGGGGTGGTTGAGACAC -3'

Sequencing Primer
(F):5'- CATGGTTCCGAGTACTGGC -3'
(R):5'- GAGACACTTTTAGTCTGTTAGCTAC -3'

Posted On

2014-07-23