Incidental Mutation 'R1880:Eva1c'
ID 209074
Institutional Source Beutler Lab
Gene Symbol Eva1c
Ensembl Gene ENSMUSG00000039903
Gene Name eva-1 homolog C
Synonyms 4931408A02Rik, 1700092M14Rik, Fam176c
MMRRC Submission 039901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1880 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 90623607-90701997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90694303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 196 (I196T)
Ref Sequence ENSEMBL: ENSMUSP00000156225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037539] [ENSMUST00000099543] [ENSMUST00000099548] [ENSMUST00000130868] [ENSMUST00000152223] [ENSMUST00000231280] [ENSMUST00000231964]
AlphaFold P58659
Predicted Effect possibly damaging
Transcript: ENSMUST00000037539
AA Change: I303T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: I303T

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 possibly damaging
Transcript: ENSMUST00000099543
AA Change: I255T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: I255T

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 benign
Transcript: ENSMUST00000099548
AA Change: I309T

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: I309T

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 possibly damaging
Transcript: ENSMUST00000231280
AA Change: I196T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231964
AA Change: I208T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232665
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.2%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,072,615 (GRCm39) D846G possibly damaging Het
Arhgef5 C A 6: 43,250,022 (GRCm39) Q258K possibly damaging Het
Atp10b G T 11: 43,150,259 (GRCm39) G1319V probably damaging Het
Axl T C 7: 25,473,973 (GRCm39) T315A probably damaging Het
Brd10 C A 19: 29,695,523 (GRCm39) L1323F probably benign Het
Btnl2 A G 17: 34,584,337 (GRCm39) E420G possibly damaging Het
Capn2 A G 1: 182,316,581 (GRCm39) W293R probably damaging Het
Cd209f A G 8: 4,155,464 (GRCm39) probably null Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Col1a1 A G 11: 94,841,394 (GRCm39) K1259R unknown Het
Dpysl3 A T 18: 43,462,939 (GRCm39) probably null Het
Dus4l T C 12: 31,690,869 (GRCm39) I261V probably benign Het
Ell3 T C 2: 121,270,792 (GRCm39) D247G probably benign Het
Erg G A 16: 95,178,168 (GRCm39) T246I probably benign Het
Fbxo43 T C 15: 36,162,661 (GRCm39) D182G probably benign Het
Frrs1 T C 3: 116,690,444 (GRCm39) probably null Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gata4 G T 14: 63,442,144 (GRCm39) P20Q probably damaging Het
Gmnc T C 16: 26,784,361 (GRCm39) D48G probably damaging Het
Gtf2h3 C T 5: 124,722,336 (GRCm39) A113V probably benign Het
Habp2 A G 19: 56,306,260 (GRCm39) I481V possibly damaging Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Hnrnpul1 A G 7: 25,432,523 (GRCm39) V380A possibly damaging Het
Hspa2 G A 12: 76,452,694 (GRCm39) D463N possibly damaging Het
Itga11 A G 9: 62,585,231 (GRCm39) D2G probably benign Het
Kel G A 6: 41,664,479 (GRCm39) L653F possibly damaging Het
Lgr5 T C 10: 115,288,184 (GRCm39) Y748C probably damaging Het
Lpxn A G 19: 12,781,452 (GRCm39) K57E probably benign Het
Ltbp2 G T 12: 84,876,045 (GRCm39) H501N probably benign Het
Macf1 G A 4: 123,332,384 (GRCm39) A2419V probably damaging Het
Map3k12 A G 15: 102,410,499 (GRCm39) probably null Het
Megf8 G A 7: 25,034,285 (GRCm39) V668I possibly damaging Het
Mmp10 T C 9: 7,505,575 (GRCm39) S280P probably benign Het
Neb C A 2: 52,148,743 (GRCm39) M2601I probably damaging Het
Nsd1 T A 13: 55,361,606 (GRCm39) N191K probably damaging Het
Or2w1 A T 13: 21,317,802 (GRCm39) N286Y probably damaging Het
Or5e1 T C 7: 108,354,335 (GRCm39) S91P probably damaging Het
Or5w14 C A 2: 87,541,639 (GRCm39) G204C probably damaging Het
Or6c214 A G 10: 129,591,290 (GRCm39) F10L probably benign Het
Patj C T 4: 98,385,477 (GRCm39) P364S probably benign Het
Pex1 T C 5: 3,655,770 (GRCm39) V39A probably benign Het
Pira13 C T 7: 3,827,950 (GRCm39) probably null Het
Pkhd1l1 A T 15: 44,388,638 (GRCm39) I1332F probably benign Het
Polq T C 16: 36,906,954 (GRCm39) V2026A possibly damaging Het
Pomt2 G T 12: 87,182,370 (GRCm39) A219D probably damaging Het
Ppp4r4 T A 12: 103,571,294 (GRCm39) Y678N possibly damaging Het
Rpf2 T C 10: 40,109,154 (GRCm39) D95G possibly damaging Het
Sema3c A T 5: 17,932,464 (GRCm39) K656* probably null Het
Sema4b A T 7: 79,866,540 (GRCm39) S207C probably damaging Het
Snap25 G A 2: 136,619,305 (GRCm39) V153M probably damaging Het
Snrnp70 T C 7: 45,026,786 (GRCm39) probably null Het
Tas2r144 C T 6: 42,193,004 (GRCm39) T248I probably benign Het
Trpv4 C T 5: 114,761,687 (GRCm39) V814M probably benign Het
Usp38 T C 8: 81,727,695 (GRCm39) E346G probably damaging Het
Vmn1r192 G T 13: 22,371,764 (GRCm39) A152E probably benign Het
Vmn1r91 A T 7: 19,835,698 (GRCm39) S206C probably damaging Het
Vps36 T C 8: 22,703,578 (GRCm39) probably null Het
Wdfy3 T C 5: 102,065,301 (GRCm39) N1289S probably benign Het
Zfp759 T C 13: 67,287,276 (GRCm39) C276R probably damaging Het
Zkscan17 G A 11: 59,378,455 (GRCm39) Q243* 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
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
R7409:Eva1c UTSW 16 90,666,544 (GRCm39) missense probably damaging 1.00
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'- TCAAAAGCCCGATGGTTTGAC -3'
(R):5'- AACTTCATTCTTGTAGGTCCCCTAG -3'

Sequencing Primer
(F):5'- AAAGCCCGATGGTTTGACATCTG -3'
(R):5'- TGTATTAGAACCCCAGGCCTG -3'
Posted On 2014-06-30