Incidental Mutation 'R2200:Eva1a'
ID 238605
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 040202-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R2200 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 82018058-82070079 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82068894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 74 (R74G)
Ref Sequence ENSEMBL: ENSMUSP00000117345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042974] [ENSMUST00000149023] [ENSMUST00000150976]
AlphaFold Q91WM6
Predicted Effect probably benign
Transcript: ENSMUST00000042974
AA Change: R74G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000037422
Gene: ENSMUSG00000035104
AA Change: R74G

DomainStartEndE-ValueType
Pfam:FAM176 18 156 5.4e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149023
AA Change: R74G

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117345
Gene: ENSMUSG00000035104
AA Change: R74G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer1 T C 17: 57,265,423 (GRCm39) I135M probably benign Het
Ano7 A G 1: 93,308,158 (GRCm39) E63G possibly damaging Het
Asah1 A G 8: 41,796,765 (GRCm39) probably null Het
B3gat2 C T 1: 23,801,873 (GRCm39) P53L probably benign Het
Bmp8b A T 4: 123,016,815 (GRCm39) M339L possibly damaging Het
Bpifb9b C A 2: 154,155,574 (GRCm39) Q358K probably benign Het
Cbs T C 17: 31,843,238 (GRCm39) D231G probably damaging Het
Chd6 A G 2: 160,825,673 (GRCm39) Y1144H probably damaging Het
Clca3a2 T A 3: 144,519,685 (GRCm39) I230L probably benign Het
Clec2d A T 6: 129,161,831 (GRCm39) T155S possibly damaging Het
Cpxm1 G T 2: 130,235,117 (GRCm39) F567L probably damaging Het
Cyp4f16 G T 17: 32,756,078 (GRCm39) A36S probably damaging Het
Dnah17 T C 11: 117,993,235 (GRCm39) probably benign Het
Eml5 T C 12: 98,791,676 (GRCm39) D1280G probably damaging Het
Ergic1 C A 17: 26,860,566 (GRCm39) A218D possibly damaging Het
Fhip1a A G 3: 85,637,628 (GRCm39) S224P probably damaging Het
Fus T A 7: 127,576,400 (GRCm39) N273K probably damaging Het
Ipo13 A C 4: 117,762,100 (GRCm39) probably null Het
Itgb3 T A 11: 104,531,812 (GRCm39) probably null Het
Lrif1 T A 3: 106,641,874 (GRCm39) S63R probably damaging Het
Lrig3 A G 10: 125,832,478 (GRCm39) probably null Het
Lrp1b A T 2: 41,174,177 (GRCm39) N1547K probably benign Het
Mme A T 3: 63,287,713 (GRCm39) N738I possibly damaging Het
Morc2a A G 11: 3,633,919 (GRCm39) N677S probably benign Het
Mrpl35 A C 6: 71,794,723 (GRCm39) L82V probably benign Het
Mybpc1 A T 10: 88,391,557 (GRCm39) N313K probably damaging Het
Podn T C 4: 107,879,787 (GRCm39) D66G probably damaging Het
Ptpru A T 4: 131,548,124 (GRCm39) N52K probably damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Qser1 A G 2: 104,619,358 (GRCm39) S485P probably damaging Het
Rbm46 A T 3: 82,771,351 (GRCm39) D421E probably benign Het
Rgs10 T C 7: 127,990,761 (GRCm39) E109G probably damaging Het
Samd8 C T 14: 21,825,388 (GRCm39) P178S probably benign Het
Scaf11 T C 15: 96,318,404 (GRCm39) K387E probably damaging Het
Sccpdh G T 1: 179,498,171 (GRCm39) V72F possibly damaging Het
Sec22a A T 16: 35,134,527 (GRCm39) V285E probably damaging Het
Slc19a3 A G 1: 83,000,664 (GRCm39) S118P probably damaging Het
Sun1 C A 5: 139,216,974 (GRCm39) R338S probably benign Het
Taf1c A G 8: 120,325,417 (GRCm39) F815S probably benign Het
Zcchc14 A T 8: 122,332,167 (GRCm39) probably benign 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
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
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'- TGCCTTTAAGTTCGGGTCCC -3'
(R):5'- TGATGATTCGTTCGCGCTCC -3'

Sequencing Primer
(F):5'- TGTCCCTGACCTTACATAGAGACATG -3'
(R):5'- TCCTCCAAGCGCTGTGC -3'
Posted On 2014-10-02