Incidental Mutation 'R0970:Eva1a'
ID 84016
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 039099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0970 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 82018058-82070079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82069084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 137 (E137G)
Ref Sequence ENSEMBL: ENSMUSP00000117345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042974] [ENSMUST00000149023] [ENSMUST00000150976]
AlphaFold Q91WM6
Predicted Effect probably damaging
Transcript: ENSMUST00000042974
AA Change: E137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037422
Gene: ENSMUSG00000035104
AA Change: E137G

DomainStartEndE-ValueType
Pfam:FAM176 18 156 5.4e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149023
AA Change: E137G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117345
Gene: ENSMUSG00000035104
AA Change: E137G

DomainStartEndE-ValueType
Pfam:FAM176 18 155 3.1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150976
SMART Domains Protein: ENSMUSP00000122674
Gene: ENSMUSG00000035104

DomainStartEndE-ValueType
Pfam:FAM176 18 67 7.4e-26 PFAM
Meta Mutation Damage Score 0.4964 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,661,364 (GRCm39) S307P probably damaging Het
Amdhd2 C T 17: 24,375,544 (GRCm39) probably null Het
Ano1 A T 7: 144,149,308 (GRCm39) M851K probably benign Het
Arid3b A T 9: 57,740,834 (GRCm39) probably benign Het
Arpp21 A G 9: 111,965,516 (GRCm39) probably benign Het
Atxn7l3 C G 11: 102,183,261 (GRCm39) probably benign Het
C87436 G A 6: 86,424,310 (GRCm39) V281M probably damaging Het
Cep70 A G 9: 99,157,652 (GRCm39) K184E possibly damaging Het
Clcn7 T C 17: 25,370,208 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a2 A G 8: 11,465,438 (GRCm39) T383A probably benign Het
Commd5 A T 15: 76,784,885 (GRCm39) probably null Het
Cyp4b1 G A 4: 115,492,833 (GRCm39) A292V probably benign Het
Dthd1 T C 5: 63,045,324 (GRCm39) L696P probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Eepd1 A G 9: 25,514,722 (GRCm39) R510G probably damaging Het
Eno3 T C 11: 70,551,628 (GRCm39) I196T probably damaging Het
Gapvd1 T A 2: 34,620,625 (GRCm39) probably null Het
Ggnbp2 T C 11: 84,753,138 (GRCm39) M34V possibly damaging Het
Gpihbp1 G A 15: 75,469,795 (GRCm39) S170N probably benign Het
Kdm3b T C 18: 34,942,092 (GRCm39) S528P probably damaging Het
Lrrk2 A T 15: 91,613,372 (GRCm39) Q832L probably benign Het
Nav2 C A 7: 49,233,901 (GRCm39) P1861Q probably damaging Het
Or52n5 A C 7: 104,588,284 (GRCm39) M184L probably benign Het
Piezo1 A T 8: 123,213,549 (GRCm39) I1782N possibly damaging Het
Pikfyve T A 1: 65,304,983 (GRCm39) S1757T probably damaging Het
Plxnb1 G T 9: 108,932,331 (GRCm39) W523C probably damaging Het
Pmm2 G T 16: 8,460,640 (GRCm39) L31F probably damaging Het
Ppm1f T C 16: 16,721,457 (GRCm39) probably null Het
Prss16 T C 13: 22,189,287 (GRCm39) Y34C probably damaging Het
Slc10a2 C G 8: 5,155,115 (GRCm39) E23D probably benign Het
Smc5 T A 19: 23,216,362 (GRCm39) I489F probably damaging Het
Snx2 T C 18: 53,343,762 (GRCm39) probably benign Het
Stradb C T 1: 59,016,219 (GRCm39) L3F possibly damaging Het
Tnxb C G 17: 34,917,917 (GRCm39) P2277A possibly damaging Het
Tpm2 T A 4: 43,515,968 (GRCm39) I270F probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Urb1 A T 16: 90,566,335 (GRCm39) L1484Q possibly damaging Het
Xylt1 G A 7: 117,233,963 (GRCm39) V497I probably damaging Het
Other mutations in Eva1a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GACATGACTCCTGTCTGATGCCTTC -3'
(R):5'- CCTGAAAGAGTAGATGCCACTGCC -3'

Sequencing Primer
(F):5'- TGATGAGGATCTCCTGCCAC -3'
(R):5'- TGTCTATTTCTCCAGAGGCAAG -3'
Posted On 2013-11-08