Incidental Mutation 'IGL02061:Eva1c'
ID 185404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eva1c
Ensembl Gene ENSMUSG00000039903
Gene Name eva-1 homolog C
Synonyms 4931408A02Rik, 1700092M14Rik, Fam176c
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02061
Quality Score
Status
Chromosome 16
Chromosomal Location 90623607-90701997 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 90663163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 67 (Q67*)
Ref Sequence ENSEMBL: ENSMUSP00000097145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037539] [ENSMUST00000099543] [ENSMUST00000099548] [ENSMUST00000130868] [ENSMUST00000152223] [ENSMUST00000154180] [ENSMUST00000231964] [ENSMUST00000231280]
AlphaFold P58659
Predicted Effect probably null
Transcript: ENSMUST00000037539
AA Change: Q61*
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903
AA Change: Q61*

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 null
Transcript: ENSMUST00000099543
AA Change: Q61*
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903
AA Change: Q61*

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 null
Transcript: ENSMUST00000099548
AA Change: Q67*
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903
AA Change: Q67*

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 benign
Transcript: ENSMUST00000154180
SMART Domains Protein: ENSMUSP00000119830
Gene: ENSMUSG00000039903

DomainStartEndE-ValueType
Pfam:Gal_Lectin 1 63 2.9e-13 PFAM
Pfam:Gal_Lectin 81 145 3.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232665
Predicted Effect probably benign
Transcript: ENSMUST00000231964
Predicted Effect probably benign
Transcript: ENSMUST00000231280
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,931,193 (GRCm39) D3E probably benign Het
Atp4a A G 7: 30,414,454 (GRCm39) Y159C probably damaging Het
Card10 A G 15: 78,662,415 (GRCm39) F861S probably damaging Het
Ccdc85c A G 12: 108,188,002 (GRCm39) V279A probably damaging Het
Cndp1 G A 18: 84,652,751 (GRCm39) R136W probably damaging Het
Eif2b3 A G 4: 116,885,608 (GRCm39) E50G possibly damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exoc1 A G 5: 76,689,967 (GRCm39) E169G probably damaging Het
Fsd2 T A 7: 81,190,172 (GRCm39) K537* probably null Het
Gbf1 T G 19: 46,267,697 (GRCm39) S1236A possibly damaging Het
Gpt C A 15: 76,583,617 (GRCm39) probably benign Het
Gsap A G 5: 21,486,609 (GRCm39) probably benign Het
Hdac6 A C X: 7,809,878 (GRCm39) probably null Het
Ivns1abp T A 1: 151,227,324 (GRCm39) L44Q probably damaging Het
Kcnt1 T A 2: 25,790,494 (GRCm39) probably null Het
Kdm2b A G 5: 123,021,404 (GRCm39) I58T probably damaging Het
Mrpl23 C T 7: 142,094,319 (GRCm39) P76S probably benign Het
Nbea A G 3: 55,625,308 (GRCm39) I2261T possibly damaging Het
Oasl1 G A 5: 115,061,651 (GRCm39) V61M probably damaging Het
Or4g7 T A 2: 111,309,614 (GRCm39) F162I possibly damaging Het
Pabpc2 A G 18: 39,908,046 (GRCm39) Q437R probably benign Het
Ppp1r26 T A 2: 28,340,639 (GRCm39) C90S possibly damaging Het
Ppp3ca A G 3: 136,503,624 (GRCm39) T66A probably benign Het
Prss55 A G 14: 64,313,192 (GRCm39) Y231H possibly damaging Het
Psmb10 T C 8: 106,664,343 (GRCm39) T38A probably damaging Het
Rfx5 A G 3: 94,865,792 (GRCm39) T364A probably benign Het
Scgb2b26 T C 7: 33,642,610 (GRCm39) N107S probably benign Het
Seh1l A G 18: 67,920,328 (GRCm39) probably benign Het
Skic3 T A 13: 76,277,660 (GRCm39) probably null Het
Sod1 T A 16: 90,022,126 (GRCm39) H111Q probably benign Het
Thbs2 A T 17: 14,900,176 (GRCm39) D592E probably benign Het
Tmem67 G A 4: 12,053,526 (GRCm39) A740V probably damaging Het
Tra2a A G 6: 49,226,032 (GRCm39) V136A possibly damaging Het
Utp18 T C 11: 93,772,967 (GRCm39) D158G probably benign Het
Zfp524 A G 7: 5,020,871 (GRCm39) E133G probably damaging Het
Other mutations in Eva1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Eva1c APN 16 90,701,235 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2014-05-07