Incidental Mutation 'R0052:Ginm1'
ID 15301
Institutional Source Beutler Lab
Gene Symbol Ginm1
Ensembl Gene ENSMUSG00000040006
Gene Name glycoprotein integral membrane 1
Synonyms BC013529
MMRRC Submission 038346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0052 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 7643711-7656681 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7655070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 57 (E57D)
Ref Sequence ENSEMBL: ENSMUSP00000119129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039763] [ENSMUST00000124838]
AlphaFold Q91WR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000039763
AA Change: E57D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006
AA Change: E57D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 260 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124447
Predicted Effect possibly damaging
Transcript: ENSMUST00000124838
AA Change: E57D

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006
AA Change: E57D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180853
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 78.2%
  • 10x: 46.7%
  • 20x: 12.5%
Validation Efficiency 90% (62/69)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apba1 T C 19: 23,893,315 (GRCm39) S438P possibly damaging Het
Atosa A G 9: 74,926,265 (GRCm39) probably benign Het
Atp2a1 A G 7: 126,057,069 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,790 (GRCm39) L184Q probably damaging Het
Bub1 G A 2: 127,650,959 (GRCm39) T618I probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eno4 A G 19: 58,956,985 (GRCm39) D357G probably damaging Het
Fcrl2 A T 3: 87,164,085 (GRCm39) I348N possibly damaging Het
Fgl2 A T 5: 21,580,347 (GRCm39) S230C probably damaging Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kif21a T C 15: 90,855,060 (GRCm39) E700G probably damaging Het
Mmd C T 11: 90,150,824 (GRCm39) probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Prex2 T A 1: 11,230,380 (GRCm39) L802Q probably damaging Het
Psd3 A G 8: 68,335,631 (GRCm39) probably null Het
Ralgds T A 2: 28,434,400 (GRCm39) probably null Het
Rmdn2 A G 17: 79,957,760 (GRCm39) E16G probably damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slco3a1 A T 7: 74,154,074 (GRCm39) I166N probably benign Het
Snx5 A T 2: 144,101,112 (GRCm39) probably null Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
St8sia2 G T 7: 73,593,038 (GRCm39) Y339* probably null Het
Tdo2 T A 3: 81,874,332 (GRCm39) N210I probably benign Het
Thada A T 17: 84,762,586 (GRCm39) N104K probably damaging Het
Timm8b A T 9: 50,516,330 (GRCm39) D61V possibly damaging Het
Trbv12-1 T C 6: 41,090,850 (GRCm39) F74S possibly damaging Het
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Usp12 A G 5: 146,675,914 (GRCm39) V336A possibly damaging Het
Xrn2 T A 2: 146,882,885 (GRCm39) probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Other mutations in Ginm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Ginm1 APN 10 7,668,460 (GRCm39) unclassified probably benign
IGL02474:Ginm1 APN 10 7,653,532 (GRCm39) splice site probably benign
IGL02606:Ginm1 APN 10 7,646,163 (GRCm39) missense probably damaging 0.98
Juniper UTSW 10 7,655,119 (GRCm39) missense probably damaging 1.00
R0010:Ginm1 UTSW 10 7,651,138 (GRCm39) splice site probably benign
R0010:Ginm1 UTSW 10 7,651,138 (GRCm39) splice site probably benign
R0052:Ginm1 UTSW 10 7,655,070 (GRCm39) missense possibly damaging 0.92
R1901:Ginm1 UTSW 10 7,650,980 (GRCm39) critical splice donor site probably null
R2106:Ginm1 UTSW 10 7,651,090 (GRCm39) missense probably damaging 1.00
R5374:Ginm1 UTSW 10 7,655,078 (GRCm39) missense probably damaging 0.99
R5929:Ginm1 UTSW 10 7,649,814 (GRCm39) missense probably benign 0.16
R6062:Ginm1 UTSW 10 7,651,097 (GRCm39) missense probably benign 0.00
R6102:Ginm1 UTSW 10 7,644,260 (GRCm39) missense probably benign 0.00
R6792:Ginm1 UTSW 10 7,649,747 (GRCm39) missense probably damaging 1.00
R7326:Ginm1 UTSW 10 7,653,614 (GRCm39) nonsense probably null
R7417:Ginm1 UTSW 10 7,649,844 (GRCm39) missense probably damaging 0.99
R7663:Ginm1 UTSW 10 7,651,126 (GRCm39) missense possibly damaging 0.84
R7757:Ginm1 UTSW 10 7,655,119 (GRCm39) missense probably damaging 1.00
R8237:Ginm1 UTSW 10 7,668,419 (GRCm39) missense unknown
R8437:Ginm1 UTSW 10 7,646,130 (GRCm39) missense probably benign
R9004:Ginm1 UTSW 10 7,651,019 (GRCm39) missense probably damaging 1.00
R9239:Ginm1 UTSW 10 7,649,825 (GRCm39) missense possibly damaging 0.93
Posted On 2012-12-17