Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Eva1a'

550350

Institutional Source

Beutler Lab

Gene Symbol

Eva1a

Ensembl Gene

ENSMUSG00000035104

Gene Name

eva-1 homolog A, regulator of programmed cell death

Synonyms

Fam176a, Tmem166

MMRRC Submission

045187-MU

Accession Numbers

Essential gene?

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

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82018058-82070079 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82069024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 117 (T117I)

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: T117I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037422
Gene: ENSMUSG00000035104
AA Change: T117I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149023
AA Change: T117I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117345
Gene: ENSMUSG00000035104
AA Change: T117I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150976

SMART Domains

Protein: ENSMUSP00000122674
Gene: ENSMUSG00000035104

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,610 (GRCm39)	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,760,487 (GRCm39)		probably benign	Het
Actn2	A	G	13: 12,324,543 (GRCm39)	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,522,187 (GRCm39)	A613E	probably damaging	Het
Atf6b	G	A	17: 34,872,790 (GRCm39)		probably null	Het
Bub1	T	A	2: 127,663,681 (GRCm39)	E240V	probably null	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc141	C	A	2: 76,871,797 (GRCm39)	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,240,877 (GRCm39)		probably null	Het
Cd209g	T	C	8: 4,186,790 (GRCm39)	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,948,060 (GRCm39)	R261H	probably damaging	Het
Cfap100	T	C	6: 90,390,436 (GRCm39)	E68G		Het
Chd9	A	G	8: 91,716,189 (GRCm39)	N921S	unknown	Het
Chil6	T	C	3: 106,311,486 (GRCm39)	N98S	probably damaging	Het
Clip1	T	C	5: 123,761,333 (GRCm39)	K734E	probably benign	Het
Cracd	C	T	5: 77,006,879 (GRCm39)	P1080L	unknown	Het
Cyp11b2	A	G	15: 74,725,507 (GRCm39)	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,482 (GRCm39)	T4418A	probably damaging	Het
Dysf	T	C	6: 84,077,184 (GRCm39)	V649A	probably benign	Het
Ergic3	G	A	2: 155,858,683 (GRCm39)	V270M	possibly damaging	Het
Fat4	G	A	3: 38,944,023 (GRCm39)	G972D	probably damaging	Het
Gm14412	A	T	2: 177,009,138 (GRCm39)	N39K	probably damaging	Het
Gm5565	T	C	5: 146,095,084 (GRCm39)	T221A	probably benign	Het
Gnptab	T	G	10: 88,215,366 (GRCm39)	V29G	possibly damaging	Het
Grem2	T	C	1: 174,664,555 (GRCm39)	Y98C	probably damaging	Het
Grik2	A	T	10: 49,232,012 (GRCm39)	I506N	possibly damaging	Het
Has2	T	A	15: 56,545,017 (GRCm39)	Y195F	probably damaging	Het
Kics2	A	G	10: 121,576,098 (GRCm39)	Y73C	possibly damaging	Het
Lars2	T	C	9: 123,288,650 (GRCm39)	L832P	probably damaging	Het
Lipo5	T	A	19: 33,446,249 (GRCm39)	E49D	probably damaging	Het
Macc1	T	A	12: 119,414,126 (GRCm39)	Y767*	probably null	Het
Map2	G	T	1: 66,451,886 (GRCm39)	E259*	probably null	Het
Mcm9	T	C	10: 53,496,253 (GRCm39)	D310G	probably damaging	Het
Mink1	C	A	11: 70,500,901 (GRCm39)		probably null	Het
Mtrr	T	C	13: 68,727,803 (GRCm39)	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,437,724 (GRCm39)	I68N	possibly damaging	Het
Or1ab2	A	T	8: 72,863,347 (GRCm39)		probably benign	Het
Or4a71	A	T	2: 89,357,902 (GRCm39)	I284K	probably damaging	Het
Or51f23b	A	G	7: 102,402,305 (GRCm39)	M277T	probably benign	Het
Or5p60	G	T	7: 107,723,840 (GRCm39)	T210N	probably benign	Het
Or8k36-ps1	T	C	2: 86,437,672 (GRCm39)	N81S	unknown	Het
Pcdh17	A	G	14: 84,684,835 (GRCm39)	D434G	probably damaging	Het
Rnf213	T	A	11: 119,328,430 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sez6l2	A	G	7: 126,552,096 (GRCm39)	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,863,118 (GRCm39)	S24G	probably benign	Het
Slc39a2	G	T	14: 52,131,146 (GRCm39)		probably benign	Het
Slitrk5	C	T	14: 111,918,268 (GRCm39)	P631S	probably benign	Het
Taf2	A	G	15: 54,923,482 (GRCm39)	V265A	probably benign	Het
Tas2r106	T	C	6: 131,655,542 (GRCm39)	N103S	probably benign	Het
Tgm1	T	C	14: 55,942,300 (GRCm39)	T684A	possibly damaging	Het
Tgm7	C	T	2: 120,929,489 (GRCm39)	G262S	probably damaging	Het
Tpp2	T	A	1: 44,008,148 (GRCm39)	S451T	probably damaging	Het
Trim15	T	C	17: 37,173,788 (GRCm39)	Y240C	probably benign	Het
Trio	A	T	15: 27,891,534 (GRCm39)	C465S	unknown	Het
Ttc22	G	A	4: 106,493,104 (GRCm39)	W250*	probably null	Het
Upb1	C	A	10: 75,274,042 (GRCm39)	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,599,573 (GRCm39)	M419K	probably benign	Het
Vstm2a	G	A	11: 16,207,990 (GRCm39)		probably benign	Het
Zfp820	T	C	17: 22,038,246 (GRCm39)	T361A	probably benign	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
PIT4480001:Eva1a	UTSW	6	82,068,784 (GRCm39)	missense	probably damaging	1.00
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
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'- TGCATTGGCCTGTTCCTGAC -3'
(R):5'- GTTTCAGCTCTTGCACATCG -3'

Sequencing Primer
(F):5'- CGCCTTGGTGATGAGGATCTCC -3'
(R):5'- ATCGTCCTTGCCTGCAGAAC -3'

Posted On

2019-05-15