Incidental Mutation 'R7449:Eva1c'
ID577600
Institutional Source Beutler Lab
Gene Symbol Eva1c
Ensembl Gene ENSMUSG00000039903
Gene Nameeva-1 homolog C (C. elegans)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R7449 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location90826719-90905109 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 90876193 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037539] [ENSMUST00000037539] [ENSMUST00000037539] [ENSMUST00000099543] [ENSMUST00000099543] [ENSMUST00000099543] [ENSMUST00000099548] [ENSMUST00000099548] [ENSMUST00000099548] [ENSMUST00000130868] [ENSMUST00000130868] [ENSMUST00000130868] [ENSMUST00000152223] [ENSMUST00000152223] [ENSMUST00000152223] [ENSMUST00000154180] [ENSMUST00000154180] [ENSMUST00000154180] [ENSMUST00000231280] [ENSMUST00000231280] [ENSMUST00000231280] [ENSMUST00000231964] [ENSMUST00000231964] [ENSMUST00000231964]
Predicted Effect probably null
Transcript: ENSMUST00000037539
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

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: ENSMUST00000037539
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

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: ENSMUST00000037539
SMART Domains Protein: ENSMUSP00000036695
Gene: ENSMUSG00000039903

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
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

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: ENSMUST00000099543
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

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: ENSMUST00000099543
SMART Domains Protein: ENSMUSP00000097141
Gene: ENSMUSG00000039903

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
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

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 null
Transcript: ENSMUST00000099548
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

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 null
Transcript: ENSMUST00000099548
SMART Domains Protein: ENSMUSP00000097145
Gene: ENSMUSG00000039903

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: ENSMUST00000130868
SMART Domains Protein: ENSMUSP00000121430
Gene: ENSMUSG00000039903

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
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: ENSMUST00000152223
SMART Domains Protein: ENSMUSP00000119510
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 null
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 probably null
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 probably null
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 probably null
Transcript: ENSMUST00000231280
Predicted Effect probably null
Transcript: ENSMUST00000231280
Predicted Effect probably null
Transcript: ENSMUST00000231280
Predicted Effect probably null
Transcript: ENSMUST00000231964
Predicted Effect probably null
Transcript: ENSMUST00000231964
Predicted Effect probably null
Transcript: ENSMUST00000231964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232665
Meta Mutation Damage Score 0.9473 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,435,908 Y306N possibly damaging Het
Adgrv1 A T 13: 81,499,073 V3116D probably damaging Het
Adssl1 A T 12: 112,634,151 T185S probably damaging Het
Ago2 G A 15: 73,146,499 P30L probably damaging Het
Atp5j C T 16: 84,831,363 V44M probably benign Het
Atp7b T A 8: 22,011,849 I833F probably damaging Het
Birc6 T A 17: 74,702,341 N4869K probably benign Het
Cacna1c C T 6: 118,602,349 D1796N Het
Ccng2 C G 5: 93,273,343 S237R probably benign Het
Cnga1 A G 5: 72,605,304 I289T probably benign Het
Crybg1 C A 10: 44,004,519 E224D probably benign Het
Dysf T C 6: 84,137,380 L1217P possibly damaging Het
Ebf2 T A 14: 67,410,020 N339K probably damaging Het
Fam172a A G 13: 77,759,442 I41V probably damaging Het
Fam184a T C 10: 53,698,634 E293G probably damaging Het
Folh1 G A 7: 86,731,748 P506S probably benign Het
Ftcd A T 10: 76,580,163 K210N probably benign Het
Gdf6 T A 4: 9,844,494 V6D possibly damaging Het
Ghitm C A 14: 37,131,581 G101C probably damaging Het
Gimap5 T A 6: 48,752,904 V136D probably damaging Het
Gm9745 T A 13: 8,943,304 H51L probably damaging Het
Grm4 C T 17: 27,435,371 G535D probably damaging Het
Gse1 T C 8: 120,229,711 S314P unknown Het
Hnrnpdl A G 5: 100,037,155 I279T probably damaging Het
Itpr1 T C 6: 108,389,384 S923P probably damaging Het
Krt39 C A 11: 99,518,061 C303F probably benign Het
Lrrn1 T C 6: 107,568,521 S427P possibly damaging Het
Lrrn3 T A 12: 41,453,488 R277W probably damaging Het
Ltb4r1 T C 14: 55,767,918 L226P probably damaging Het
Map1b C T 13: 99,508,140 R85Q probably damaging Het
Mcoln1 T C 8: 3,507,285 L125P probably damaging Het
Nid1 T G 13: 13,482,051 V589G probably damaging Het
Nlrp5 T G 7: 23,417,526 F225C probably benign Het
Notch3 C T 17: 32,157,966 A322T probably damaging Het
Olfr299 A G 7: 86,465,855 H148R probably benign Het
Olfr69 G T 7: 103,767,819 Q193K probably benign Het
Olfr854 T A 9: 19,566,866 T173S probably benign Het
Otogl A G 10: 107,803,663 C1363R probably damaging Het
Ovol1 T A 19: 5,553,597 D92V probably benign Het
Pigt T C 2: 164,502,499 L356P probably damaging Het
Plekhg3 A G 12: 76,566,222 Q434R probably damaging Het
Plekhh1 T C 12: 79,079,552 F1344L probably benign Het
Psmd3 T A 11: 98,695,551 L515Q probably damaging Het
Pus1 A G 5: 110,774,586 L405P probably damaging Het
Qtrt2 T A 16: 43,881,032 H55L probably benign Het
Rasgrp1 T C 2: 117,287,943 I522V probably damaging Het
Raver2 T A 4: 101,102,663 H113Q probably damaging Het
Recql4 T C 15: 76,705,565 D760G unknown Het
Rhobtb3 C T 13: 75,910,741 V313M probably benign Het
Rhox4d G A X: 37,518,992 G191E unknown Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Rnf185 T C 11: 3,426,578 Q135R probably benign Het
Sema3f T C 9: 107,684,036 S584G probably damaging Het
Sh3pxd2a T A 19: 47,267,652 T904S probably benign Het
Slc4a10 T C 2: 62,303,946 V1002A probably benign Het
Taf1b T C 12: 24,504,993 I55T probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,446,708 probably benign Het
Tenm4 A T 7: 96,874,213 D1654V possibly damaging Het
Tgfb1 G A 7: 25,704,838 V357M probably damaging Het
Tnxb C T 17: 34,703,361 P2383S possibly damaging Het
Trpm1 A T 7: 64,208,975 M382L probably benign Het
Trrap A G 5: 144,851,209 Y3516C probably damaging Het
Txnrd1 T A 10: 82,885,233 Y494* probably null Het
Ubr2 C T 17: 46,964,788 E811K probably damaging Het
Ubxn4 T A 1: 128,244,543 F25I possibly damaging Het
Vmn2r117 A G 17: 23,459,895 M785T probably damaging Het
Vmn2r99 G A 17: 19,379,145 D364N probably benign Het
Vps45 C A 3: 96,047,136 probably null Het
Wdr25 A C 12: 109,026,441 H426P probably damaging Het
Wdr83 A T 8: 85,079,681 W136R probably damaging Het
Xylt1 A C 7: 117,592,005 I343L possibly damaging Het
Znrd1as A G 17: 36,964,383 D16G probably damaging Het
Zscan4b T C 7: 10,904,058 Q53R possibly damaging Het
Other mutations in Eva1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Eva1c APN 16 90904347 missense probably damaging 1.00
IGL02061:Eva1c APN 16 90866275 nonsense probably null
R0067:Eva1c UTSW 16 90866417 missense possibly damaging 0.65
R0067:Eva1c UTSW 16 90866417 missense possibly damaging 0.65
R0455:Eva1c UTSW 16 90876098 missense probably benign 0.03
R1330:Eva1c UTSW 16 90904396 missense probably damaging 1.00
R1765:Eva1c UTSW 16 90904247 missense probably benign 0.01
R1824:Eva1c UTSW 16 90866443 missense probably benign 0.01
R1880:Eva1c UTSW 16 90897415 missense possibly damaging 0.75
R2248:Eva1c UTSW 16 90831325 missense probably benign 0.12
R4072:Eva1c UTSW 16 90904131 missense probably damaging 1.00
R4076:Eva1c UTSW 16 90904131 missense probably damaging 1.00
R4622:Eva1c UTSW 16 90897455 critical splice donor site probably null
R4760:Eva1c UTSW 16 90904250 missense probably benign 0.37
R4767:Eva1c UTSW 16 90904347 missense probably damaging 1.00
R5024:Eva1c UTSW 16 90876193 critical splice donor site probably null
R5304:Eva1c UTSW 16 90869663 missense probably damaging 1.00
R5559:Eva1c UTSW 16 90904251 missense probably benign 0.06
R6605:Eva1c UTSW 16 90866348 missense probably damaging 1.00
R7222:Eva1c UTSW 16 90904184 small deletion probably benign
R7409:Eva1c UTSW 16 90869656 missense probably damaging 1.00
R8489:Eva1c UTSW 16 90876111 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTCCTCTCCAGATGAGTTG -3'
(R):5'- CTCGCAACTGCAGAACTTGTAC -3'

Sequencing Primer
(F):5'- CTTCCTCTCCAGATGAGTTGAAAAAC -3'
(R):5'- GATGAGTTCCCAGTGCCTAGAAC -3'
Posted On2019-10-07