Incidental Mutation 'R7409:Eva1c'
ID 574959
Institutional Source Beutler Lab
Gene Symbol Eva1c
Ensembl Gene ENSMUSG00000039903
Gene Name eva-1 homolog C
Synonyms 4931408A02Rik, 1700092M14Rik, Fam176c
MMRRC Submission 045490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R7409 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 90623607-90701997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90666544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 156 (K156E)
Ref Sequence ENSEMBL: ENSMUSP00000097145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037539] [ENSMUST00000099543] [ENSMUST00000099548] [ENSMUST00000130868] [ENSMUST00000152223] [ENSMUST00000154180] [ENSMUST00000231280] [ENSMUST00000231964]
AlphaFold P58659
Predicted Effect probably damaging
Transcript: ENSMUST00000037539
AA Change: K150E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: K150E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Gal_Lectin 75 158 1.8e-22 PFAM
Pfam:Gal_Lectin 176 259 2e-21 PFAM
Pfam:FAM176 300 440 3e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099543
AA Change: K150E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: K150E

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:Gal_Lectin 75 158 4.9e-20 PFAM
internal_repeat_1 163 203 8.79e-5 PROSPERO
Pfam:FAM176 252 392 5.8e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099548
AA Change: K156E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: K156E

DomainStartEndE-ValueType
Pfam:Gal_Lectin 1 63 1.5e-12 PFAM
Pfam:Gal_Lectin 81 164 6.5e-21 PFAM
Pfam:FAM176 205 345 1.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130868
SMART Domains Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152223
SMART Domains Protein: ENSMUSP00000119510
Gene: ENSMUSG00000039903

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000154180
AA Change: K55E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903
AA Change: K55E

DomainStartEndE-ValueType
Pfam:Gal_Lectin 1 63 2.9e-13 PFAM
Pfam:Gal_Lectin 81 145 3.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231280
Predicted Effect probably damaging
Transcript: ENSMUST00000231964
AA Change: K55E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (82/84)
MGI Phenotype PHENOTYPE: Homozygous mice exhibit an abnormal pupilary reflex in response to dilating drugs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,912,862 (GRCm39) A1329V probably benign Het
Aida A G 1: 183,099,809 (GRCm39) T215A probably benign Het
Alpk2 A G 18: 65,440,023 (GRCm39) S457P probably benign Het
Ap4b1 G A 3: 103,719,474 (GRCm39) V63I probably damaging Het
Apaf1 A G 10: 90,903,108 (GRCm39) V182A probably damaging Het
B4galnt4 G A 7: 140,646,916 (GRCm39) probably null Het
Bltp2 G T 11: 78,159,583 (GRCm39) R544L probably damaging Het
Cacna1a T G 8: 85,260,031 (GRCm39) D331E probably damaging Het
Carmil2 A G 8: 106,419,423 (GRCm39) probably null Het
Cdkn1b A T 6: 134,898,280 (GRCm39) Q133L probably benign Het
Cep192 G C 18: 67,967,874 (GRCm39) S786T possibly damaging Het
Cfap418 T A 4: 10,881,834 (GRCm39) C94S probably benign Het
Cfap97 G A 8: 46,645,733 (GRCm39) R537H probably benign Het
Clpx C G 9: 65,231,529 (GRCm39) A552G possibly damaging Het
Cryl1 G A 14: 57,523,842 (GRCm39) T240I probably damaging Het
Ddx60 C A 8: 62,411,612 (GRCm39) T488K probably benign Het
Dennd4b A G 3: 90,181,259 (GRCm39) H805R probably benign Het
Dnmbp T C 19: 43,878,996 (GRCm39) D25G unknown Het
Dysf A C 6: 84,126,664 (GRCm39) D1293A probably benign Het
Efl1 T C 7: 82,347,121 (GRCm39) L549P probably damaging Het
Eif5 T C 12: 111,506,697 (GRCm39) probably benign Het
Fbxw10 T G 11: 62,767,606 (GRCm39) V814G possibly damaging Het
Gfap C T 11: 102,785,358 (GRCm39) R206Q probably benign Het
Gjb6 A T 14: 57,361,610 (GRCm39) L217* probably null Het
Gpatch11 T A 17: 79,146,595 (GRCm39) L80Q probably damaging Het
Gramd1b T C 9: 40,238,727 (GRCm39) Q225R probably damaging Het
Gsdmc2 A G 15: 63,705,195 (GRCm39) S173P possibly damaging Het
Hars1 C G 18: 36,903,166 (GRCm39) R388P probably damaging Het
Ighm C T 12: 113,385,852 (GRCm39) R129H Het
Igsf9 A G 1: 172,322,841 (GRCm39) I602V probably benign Het
Inpp4b T G 8: 82,679,314 (GRCm39) probably null Het
Itch C A 2: 155,041,302 (GRCm39) T450K probably damaging Het
Kcnq1 T C 7: 142,663,152 (GRCm39) F20L unknown Het
Kmt2d G T 15: 98,753,235 (GRCm39) A153E probably damaging Het
Macf1 T A 4: 123,398,263 (GRCm39) N750I probably damaging Het
Marveld2 T A 13: 100,747,984 (GRCm39) H365L probably damaging Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mettl8 A T 2: 70,803,687 (GRCm39) V200E probably damaging Het
Mrgbp T G 2: 180,227,135 (GRCm39) S157A possibly damaging Het
Mrps35 A G 6: 146,957,481 (GRCm39) T169A possibly damaging Het
Mycbp2 A T 14: 103,526,180 (GRCm39) Y551N probably damaging Het
Myo18b T C 5: 113,021,971 (GRCm39) R474G probably benign Het
Nfx1 T A 4: 41,021,830 (GRCm39) S979R possibly damaging Het
Nlrp1a T C 11: 71,013,634 (GRCm39) T539A probably benign Het
Oca2 T A 7: 56,064,145 (GRCm39) D713E probably benign Het
Omt2b A C 9: 78,235,894 (GRCm39) Y73S probably benign Het
Or10aa1 T A 1: 173,870,099 (GRCm39) H194Q probably benign Het
Or13a27 C T 7: 139,925,318 (GRCm39) V195I probably benign Het
Or6c38 A G 10: 128,929,081 (GRCm39) I254T probably damaging Het
Or6c69 A T 10: 129,748,120 (GRCm39) V9D possibly damaging Het
Pde11a G T 2: 75,836,328 (GRCm39) Q20K Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phrf1 C A 7: 140,839,205 (GRCm39) T800K unknown Het
Polr1f T G 12: 33,486,988 (GRCm39) C150W possibly damaging Het
Pramel4 T C 4: 143,795,061 (GRCm39) S486P probably benign Het
Proc T C 18: 32,260,513 (GRCm39) D204G probably benign Het
Rasgrp3 T A 17: 75,823,411 (GRCm39) I494N possibly damaging Het
Samm50 A G 15: 84,081,231 (GRCm39) D53G probably benign Het
Satb1 T C 17: 52,116,217 (GRCm39) D22G possibly damaging Het
Scarf2 T C 16: 17,624,918 (GRCm39) S658P probably damaging Het
Sfta2 T A 17: 35,925,410 (GRCm39) I29K unknown Het
Slc15a4 A T 5: 127,681,742 (GRCm39) S292T probably benign Het
Slc37a1 C T 17: 31,559,237 (GRCm39) T439I probably damaging Het
Slc4a9 C A 18: 36,663,858 (GRCm39) P294Q probably damaging Het
Slc52a3 T C 2: 151,846,086 (GRCm39) S16P probably damaging Het
Slc6a15 A G 10: 103,244,163 (GRCm39) I468V probably benign Het
Spag17 T C 3: 99,934,547 (GRCm39) S610P possibly damaging Het
Spag17 A T 3: 99,941,475 (GRCm39) D738V probably benign Het
Ssbp4 T C 8: 71,050,617 (GRCm39) R269G unknown Het
Tbl1xr1 A G 3: 22,257,354 (GRCm39) T406A possibly damaging Het
Tep1 A T 14: 51,104,312 (GRCm39) V194D possibly damaging Het
Thbs4 A T 13: 92,909,767 (GRCm39) C343* probably null Het
Tmed10 A T 12: 85,391,065 (GRCm39) S158T possibly damaging Het
Trbv3 T A 6: 41,025,524 (GRCm39) V38E probably damaging Het
Ttc6 T C 12: 57,743,772 (GRCm39) M1258T probably damaging Het
Ttn T C 2: 76,589,320 (GRCm39) D21281G probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn2r8 C A 5: 108,956,449 (GRCm39) E58* probably null Het
Vps13d C T 4: 144,867,824 (GRCm39) E2009K Het
Vps33b T C 7: 79,935,017 (GRCm39) I320T probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Ythdf1 T C 2: 180,553,786 (GRCm39) Y143C probably damaging Het
Zfp213 C T 17: 23,778,603 (GRCm39) probably null Het
Zfp219 A T 14: 52,244,570 (GRCm39) Y536* probably null Het
Other mutations in Eva1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Eva1c APN 16 90,701,235 (GRCm39) missense probably damaging 1.00
IGL02061:Eva1c APN 16 90,663,163 (GRCm39) nonsense probably null
R0067:Eva1c UTSW 16 90,663,305 (GRCm39) missense possibly damaging 0.65
R0067:Eva1c UTSW 16 90,663,305 (GRCm39) missense possibly damaging 0.65
R0455:Eva1c UTSW 16 90,672,986 (GRCm39) missense probably benign 0.03
R1330:Eva1c UTSW 16 90,701,284 (GRCm39) missense probably damaging 1.00
R1765:Eva1c UTSW 16 90,701,135 (GRCm39) missense probably benign 0.01
R1824:Eva1c UTSW 16 90,663,331 (GRCm39) missense probably benign 0.01
R1880:Eva1c UTSW 16 90,694,303 (GRCm39) missense possibly damaging 0.75
R2248:Eva1c UTSW 16 90,628,213 (GRCm39) missense probably benign 0.12
R4072:Eva1c UTSW 16 90,701,019 (GRCm39) missense probably damaging 1.00
R4076:Eva1c UTSW 16 90,701,019 (GRCm39) missense probably damaging 1.00
R4622:Eva1c UTSW 16 90,694,343 (GRCm39) critical splice donor site probably null
R4760:Eva1c UTSW 16 90,701,138 (GRCm39) missense probably benign 0.37
R4767:Eva1c UTSW 16 90,701,235 (GRCm39) missense probably damaging 1.00
R5024:Eva1c UTSW 16 90,673,081 (GRCm39) critical splice donor site probably null
R5304:Eva1c UTSW 16 90,666,551 (GRCm39) missense probably damaging 1.00
R5559:Eva1c UTSW 16 90,701,139 (GRCm39) missense probably benign 0.06
R6605:Eva1c UTSW 16 90,663,236 (GRCm39) missense probably damaging 1.00
R7222:Eva1c UTSW 16 90,701,072 (GRCm39) small deletion probably benign
R7449:Eva1c UTSW 16 90,673,081 (GRCm39) critical splice donor site probably null
R8489:Eva1c UTSW 16 90,672,999 (GRCm39) missense probably damaging 1.00
R8687:Eva1c UTSW 16 90,687,433 (GRCm39) missense probably benign 0.42
R9091:Eva1c UTSW 16 90,701,231 (GRCm39) missense probably benign 0.04
R9270:Eva1c UTSW 16 90,701,231 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAGATCAAGGCAGGTTTGGG -3'
(R):5'- TGCAGTTGACTTTTACACCTTGAG -3'

Sequencing Primer
(F):5'- AGGTTTGGGGTCCAGCAGAC -3'
(R):5'- ACTCATAAGTAGGAGCACACATGTG -3'
Posted On 2019-10-07