Incidental Mutation 'R7181:Eva1b'
ID 558968
Institutional Source Beutler Lab
Gene Symbol Eva1b
Ensembl Gene ENSMUSG00000050212
Gene Name eva-1 homolog B
Synonyms 2610027C15Rik, Fam176b
MMRRC Submission 045270-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R7181 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 126041537-126043668 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126043446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 162 (H162R)
Ref Sequence ENSEMBL: ENSMUSP00000054141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052876] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000106150] [ENSMUST00000106152]
AlphaFold Q8K2Y3
Predicted Effect possibly damaging
Transcript: ENSMUST00000052876
AA Change: H162R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054141
Gene: ENSMUSG00000050212
AA Change: H162R

DomainStartEndE-ValueType
Pfam:FAM176 7 154 5.3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094760
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 68 125 7.11e-22 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 464 473 N/A INTRINSIC
coiled coil region 482 510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097891
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 1 57 4.29e-7 SMART
low complexity region 66 76 N/A INTRINSIC
SH3 86 141 2.96e-19 SMART
SH3 184 241 7.11e-22 SMART
low complexity region 327 337 N/A INTRINSIC
low complexity region 580 589 N/A INTRINSIC
coiled coil region 598 626 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106150
AA Change: H162R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101756
Gene: ENSMUSG00000050212
AA Change: H162R

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106152
AA Change: H162R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101758
Gene: ENSMUSG00000050212
AA Change: H162R

DomainStartEndE-ValueType
Pfam:FAM176 7 154 3e-63 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,188,037 (GRCm39) N182D probably benign Het
Adgrl1 A G 8: 84,652,878 (GRCm39) probably null Het
Adm T C 7: 110,228,236 (GRCm39) I139T probably damaging Het
Ahnak A T 19: 8,990,852 (GRCm39) K4045N probably damaging Het
Axin1 T A 17: 26,392,752 (GRCm39) S344R probably damaging Het
Cacna1g T C 11: 94,306,691 (GRCm39) S1896G probably benign Het
Cd209c A G 8: 3,995,712 (GRCm39) V30A probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdh8 A T 8: 99,825,557 (GRCm39) M520K probably benign Het
Cyp2b23 G A 7: 26,373,828 (GRCm39) T306I probably damaging Het
Dnajc10 T G 2: 80,149,587 (GRCm39) Y96* probably null Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Elmod1 A C 9: 53,841,382 (GRCm39) probably null Het
Fam222b A T 11: 78,045,804 (GRCm39) N455I probably damaging Het
Fer1l6 G A 15: 58,447,146 (GRCm39) A626T probably benign Het
Fgd6 A G 10: 93,879,373 (GRCm39) T76A probably benign Het
Fndc7 A G 3: 108,788,640 (GRCm39) probably null Het
Gabrg2 T A 11: 41,811,261 (GRCm39) I295F probably damaging Het
Gm10406 A T 14: 7,027,359 (GRCm38) probably null Het
Gm47189 T C 14: 41,492,059 (GRCm39) M73V probably benign Het
Gm9758 A T 5: 14,963,667 (GRCm39) S54T probably damaging Het
Gm9857 A G 3: 108,847,554 (GRCm39) S70P unknown Het
Gsap A T 5: 21,458,427 (GRCm39) E470D probably damaging Het
Hesx1 T A 14: 26,722,678 (GRCm39) M1K probably null Het
Hirip3 A G 7: 126,463,235 (GRCm39) D397G probably damaging Het
Kalrn T A 16: 33,983,447 (GRCm39) N13I probably benign Het
Mettl8 A T 2: 70,803,706 (GRCm39) S194T possibly damaging Het
Mrps35 T G 6: 146,957,491 (GRCm39) probably null Het
Myrfl G T 10: 116,697,448 (GRCm39) N25K probably damaging Het
Or51b6b C A 7: 103,310,020 (GRCm39) G146C probably damaging Het
Or7a41 A G 10: 78,871,287 (GRCm39) Y219C probably damaging Het
Or9k2b A T 10: 130,016,626 (GRCm39) I41N possibly damaging Het
Phf14 A T 6: 11,933,340 (GRCm39) E67D unknown Het
Prdm16 C T 4: 154,613,094 (GRCm39) G111D probably damaging Het
Prex1 G A 2: 166,412,291 (GRCm39) A1568V probably damaging Het
Ptpn23 G A 9: 110,214,325 (GRCm39) T1692I unknown Het
Ptprb C T 10: 116,204,671 (GRCm39) S1835L probably damaging Het
Rbm19 G A 5: 120,254,532 (GRCm39) probably benign Het
Rgs7bp T A 13: 105,119,382 (GRCm39) H152L possibly damaging Het
Rmdn3 A T 2: 118,969,849 (GRCm39) L404Q probably damaging Het
Rock2 T A 12: 17,023,144 (GRCm39) F1148I probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sec24c C A 14: 20,739,401 (GRCm39) H559N probably damaging Het
Sephs2 T C 7: 126,872,992 (GRCm39) S34G probably benign Het
Serpina6 A T 12: 103,613,203 (GRCm39) S366T probably benign Het
Serpinb7 A T 1: 107,378,052 (GRCm39) E248D probably benign Het
Sesn1 G T 10: 41,779,724 (GRCm39) R386L possibly damaging Het
Skida1 T C 2: 18,051,602 (GRCm39) S430G unknown Het
Slc28a2 A T 2: 122,282,462 (GRCm39) probably null Het
Slc39a8 T C 3: 135,563,299 (GRCm39) F203S possibly damaging Het
Svip A G 7: 51,653,177 (GRCm39) S46P possibly damaging Het
Tbx21 T A 11: 96,989,923 (GRCm39) D423V probably benign Het
Tcirg1 G A 19: 3,953,576 (GRCm39) A117V probably null Het
Tmem63b T A 17: 45,984,094 (GRCm39) K258N probably benign Het
Tmem94 A G 11: 115,685,600 (GRCm39) N951S probably damaging Het
Uba2 G T 7: 33,840,854 (GRCm39) D591E probably benign Het
Unc13b C T 4: 43,258,893 (GRCm39) R1356W probably damaging Het
Wasf3 A G 5: 146,403,615 (GRCm39) T242A probably benign Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp770 T C 2: 114,027,872 (GRCm39) K66E probably damaging Het
Zfyve26 A T 12: 79,315,182 (GRCm39) D1431E probably benign Het
Zhx2 G A 15: 57,686,746 (GRCm39) R705H probably benign Het
Other mutations in Eva1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Eva1b APN 4 126,043,443 (GRCm39) missense probably benign 0.02
R0139:Eva1b UTSW 4 126,043,446 (GRCm39) missense probably damaging 0.99
R6285:Eva1b UTSW 4 126,043,278 (GRCm39) missense probably damaging 1.00
R6638:Eva1b UTSW 4 126,043,265 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- CTATGCCTGCTGGTCATCAG -3'
(R):5'- GGAGCTGGCATTCTTTTCCC -3'

Sequencing Primer
(F):5'- ACACCATGACGAGGCTGG -3'
(R):5'- GGCATTCTTTTCCCACCCACAC -3'
Posted On 2019-06-26