Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4480001:Eva1a'

554857

Institutional Source

Beutler Lab

Gene Symbol

Eva1a

Ensembl Gene

ENSMUSG00000035104

Gene Name

eva-1 homolog A, regulator of programmed cell death

Synonyms

Fam176a, Tmem166

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

PIT4480001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82018058-82070079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82068784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 37 (E37G)

Ref Sequence

ENSEMBL: ENSMUSP00000037422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042974] [ENSMUST00000149023] [ENSMUST00000150976]

AlphaFold

Q91WM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042974
AA Change: E37G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037422
Gene: ENSMUSG00000035104
AA Change: E37G

Domain	Start	End	E-Value	Type
Pfam:FAM176	18	156	5.4e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149023
AA Change: E37G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117345
Gene: ENSMUSG00000035104
AA Change: E37G

Domain	Start	End	E-Value	Type
Pfam:FAM176	18	155	3.1e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150976
AA Change: E37G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122674
Gene: ENSMUSG00000035104
AA Change: E37G

Domain	Start	End	E-Value	Type
Pfam:FAM176	18	67	7.4e-26	PFAM

Coding Region Coverage

1x: 93.3%
3x: 90.7%
10x: 83.8%
20x: 69.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	G	A	19: 4,917,605 (GRCm39)	Q413*	probably null	Het
Ahnak2	C	T	12: 112,740,358 (GRCm39)	S1238N	possibly damaging	Het
Arsk	T	C	13: 76,210,484 (GRCm39)	E521G	probably damaging	Het
Baiap2	A	G	11: 119,887,913 (GRCm39)	T356A	probably benign	Het
Baz1b	G	A	5: 135,246,819 (GRCm39)	R756H	probably damaging	Het
Celsr1	G	A	15: 85,916,615 (GRCm39)	P453S	probably damaging	Het
Cep41	G	A	6: 30,658,412 (GRCm39)	P196S	probably damaging	Het
Cln5	T	A	14: 103,309,214 (GRCm39)	Y89*	probably null	Het
Cntnap3	A	G	13: 64,905,024 (GRCm39)	F919S	probably damaging	Het
Cntrl	C	T	2: 35,045,440 (GRCm39)	H1383Y	probably damaging	Het
Cobl	A	G	11: 12,203,592 (GRCm39)	S1037P	probably benign	Het
Col17a1	A	T	19: 47,659,813 (GRCm39)	S380T	probably benign	Het
Cyrib	G	A	15: 63,828,490 (GRCm39)	T11I	probably benign	Het
Dagla	A	T	19: 10,238,022 (GRCm39)	S323T	probably benign	Het
Dicer1	G	T	12: 104,662,803 (GRCm39)	Q1593K	probably benign	Het
Dnah6	T	C	6: 73,078,863 (GRCm39)	I2367V	probably benign	Het
Emc1	T	C	4: 139,086,588 (GRCm39)	S184P	possibly damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Erbb4	A	T	1: 68,114,702 (GRCm39)	M914K	probably damaging	Het
Fyco1	G	T	9: 123,657,715 (GRCm39)	Y820*	probably null	Het
Gipr	T	C	7: 18,896,859 (GRCm39)	Y137C	probably damaging	Het
Gm5414	A	G	15: 101,536,181 (GRCm39)	V148A	probably damaging	Het
Gpn1	T	C	5: 31,654,685 (GRCm39)	V79A	probably damaging	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Inpp4b	A	C	8: 82,772,896 (GRCm39)	E730A	probably damaging	Het
Inpp5f	C	T	7: 128,286,858 (GRCm39)	T579I	probably benign	Het
Kif15	A	T	9: 122,840,608 (GRCm39)	M1201L	probably benign	Het
Ltbp3	A	G	19: 5,801,254 (GRCm39)	N631S	possibly damaging	Het
Mdh1	G	A	11: 21,508,538 (GRCm39)	S268L	probably damaging	Het
Mgat4e	T	A	1: 134,469,103 (GRCm39)	T314S	possibly damaging	Het
Nsd1	A	G	13: 55,361,731 (GRCm39)	Q233R	probably benign	Het
Or11g1	T	C	14: 50,651,372 (GRCm39)	F124L	probably benign	Het
Or5w17	T	C	2: 87,584,127 (GRCm39)	D70G	possibly damaging	Het
Paqr5	T	A	9: 61,863,438 (GRCm39)	I295L	probably benign	Het
Peg10	C	T	6: 4,756,560 (GRCm39)	H379Y	unknown	Het
Phtf2	A	T	5: 21,018,242 (GRCm39)	I33N	probably damaging	Het
Plcb2	T	C	2: 118,553,977 (GRCm39)	M115V	probably benign	Het
Ppp2r3d	A	G	9: 101,003,576 (GRCm39)	Y431H	possibly damaging	Het
Prph2	GT	G	17: 47,222,039 (GRCm39)		probably null	Het
Psmd1	C	T	1: 86,055,960 (GRCm39)	P774L	probably damaging	Het
Ranbp17	A	T	11: 33,247,340 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,977 (GRCm39)	D770G	possibly damaging	Het
Serac1	A	G	17: 6,101,087 (GRCm39)	L439P	probably damaging	Het
Slitrk6	TTTTAGTCTGTTCTACCAACACCTT	TTT	14: 110,987,257 (GRCm39)		probably null	Het
Sox6	T	C	7: 115,196,744 (GRCm39)	I295M	probably benign	Het
Spata31h1	T	C	10: 82,119,586 (GRCm39)	M4475V	probably benign	Het
Sulf1	T	A	1: 12,929,637 (GRCm39)	D301E	probably benign	Het
Tas2r117	G	A	6: 132,780,014 (GRCm39)	V51I	possibly damaging	Het
Tbx2	C	T	11: 85,725,561 (GRCm39)	R171C	probably damaging	Het
Tgfbr1	A	G	4: 47,402,955 (GRCm39)	I320V	probably benign	Het
Tjp3	C	A	10: 81,115,091 (GRCm39)	G396W	probably damaging	Het
Tmprss2	T	C	16: 97,400,460 (GRCm39)	N4D	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,071 (GRCm39)	N165D	probably benign	Het
Tnfrsf21	A	T	17: 43,348,802 (GRCm39)	Y138F	probably benign	Het
Utp4	T	C	8: 107,632,817 (GRCm39)	S267P	probably benign	Het
Wnk1	A	T	6: 119,940,328 (GRCm39)	L803*	probably null	Het
Zbbx	T	A	3: 75,043,794 (GRCm39)	D35V	probably damaging	Het
Zscan12	T	G	13: 21,552,744 (GRCm39)	N189K	possibly damaging	Het

Other mutations in Eva1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Eva1a	APN	6	82,048,211 (GRCm39)	missense	probably benign	0.01
R0970:Eva1a	UTSW	6	82,069,084 (GRCm39)	missense	probably damaging	1.00
R1777:Eva1a	UTSW	6	82,069,137 (GRCm39)	missense	probably damaging	1.00
R1818:Eva1a	UTSW	6	82,048,125 (GRCm39)	start codon destroyed	probably null	0.30
R2200:Eva1a	UTSW	6	82,068,894 (GRCm39)	missense	probably benign	0.19
R5820:Eva1a	UTSW	6	82,048,154 (GRCm39)	missense	probably benign	0.22
R5921:Eva1a	UTSW	6	82,069,140 (GRCm39)	missense	probably damaging	1.00
R6373:Eva1a	UTSW	6	82,068,847 (GRCm39)	missense	probably damaging	1.00
R6450:Eva1a	UTSW	6	82,069,086 (GRCm39)	missense	probably damaging	1.00
R7094:Eva1a	UTSW	6	82,069,024 (GRCm39)	missense	probably damaging	1.00
R7148:Eva1a	UTSW	6	82,048,125 (GRCm39)	start codon destroyed	probably null	0.47
R7468:Eva1a	UTSW	6	82,069,002 (GRCm39)	missense	possibly damaging	0.55
R7503:Eva1a	UTSW	6	82,048,210 (GRCm39)	nonsense	probably null
R8193:Eva1a	UTSW	6	82,068,921 (GRCm39)	missense	probably benign	0.34
R9159:Eva1a	UTSW	6	82,068,855 (GRCm39)	missense	possibly damaging	0.82
R9299:Eva1a	UTSW	6	82,069,047 (GRCm39)	missense	probably damaging	1.00
Z1088:Eva1a	UTSW	6	82,068,918 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAATTGCCGTATGTAGCCTTTG -3'
(R):5'- TTCAAAGTCCTCTCGAAGCGG -3'

Sequencing Primer
(F):5'- GTCTTCCAGCAATAGAATTCAGGGC -3'
(R):5'- AGGTCAGAGGCTGTGTCCTC -3'

Posted On

2019-06-07