Incidental Mutation 'R0052:Ginm1'
ID 33055
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 225
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 64 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
Axin2 T C 11: 108,840,096 (GRCm39) Y735H probably damaging 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
Catsperg2 A G 7: 29,424,445 (GRCm39) probably benign Het
Ccdc73 T A 2: 104,759,915 (GRCm39) probably benign Het
Crybg3 A T 16: 59,386,019 (GRCm39) probably benign Het
Dsp A G 13: 38,381,340 (GRCm39) D2096G possibly damaging Het
Eef2 C CN 10: 81,014,602 (GRCm39) probably null Het
Elp3 A G 14: 65,768,975 (GRCm39) *548Q probably null 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
Gtf3c1 A T 7: 125,267,143 (GRCm39) probably null Het
Herc1 G T 9: 66,307,438 (GRCm39) G1044V probably damaging Het
Hmcn1 G A 1: 150,553,157 (GRCm39) T2511M probably damaging Het
Iba57 C T 11: 59,049,727 (GRCm39) A207T probably benign Het
Itga9 T A 9: 118,465,617 (GRCm39) I157N probably damaging Het
Kalrn A G 16: 34,177,541 (GRCm39) L208P probably damaging Het
Kcnj10 A G 1: 172,196,491 (GRCm39) T2A probably benign Het
Kdm1b T A 13: 47,217,593 (GRCm39) C351S 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
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Morn3 T C 5: 123,184,726 (GRCm39) Y38C probably damaging Het
Nacc1 A T 8: 85,402,854 (GRCm39) V313D probably benign Het
Nbeal1 T A 1: 60,267,771 (GRCm39) probably benign Het
Neb T C 2: 52,163,992 (GRCm39) K1989E possibly damaging Het
Nlrp3 C T 11: 59,455,954 (GRCm39) R917* probably null Het
Nlrp4b T A 7: 10,459,889 (GRCm39) Y463* probably null Het
Perm1 A T 4: 156,302,572 (GRCm39) D372V probably damaging Het
Phf3 T C 1: 30,847,848 (GRCm39) T1232A probably damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Pld4 T A 12: 112,734,291 (GRCm39) F386I probably benign 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
Rnf111 A T 9: 70,383,671 (GRCm39) S87R probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc9c1 A G 16: 45,427,219 (GRCm39) probably benign 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
St8sia2 A T 7: 73,621,700 (GRCm39) W86R probably damaging Het
Stk33 A G 7: 108,878,876 (GRCm39) L491P possibly damaging Het
Sult2a7 T C 7: 14,199,133 (GRCm39) Y298C probably damaging 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
Tshz1 G A 18: 84,033,070 (GRCm39) T446I possibly damaging Het
Ubap2l T C 3: 89,946,235 (GRCm39) N123S possibly damaging Het
Vmn1r48 T C 6: 90,013,246 (GRCm39) E193G possibly damaging Het
Vmn1r69 C T 7: 10,314,327 (GRCm39) V135I probably benign Het
Vmn2r103 G T 17: 20,031,903 (GRCm39) G559V probably benign Het
Vmn2r26 T A 6: 124,038,992 (GRCm39) *856R probably null Het
Vmn2r88 A G 14: 51,656,157 (GRCm39) I798V possibly damaging Het
Vsir C T 10: 60,193,861 (GRCm39) A108V probably benign Het
Zfp14 G T 7: 29,737,753 (GRCm39) Q411K probably damaging Het
Zfp236 A T 18: 82,657,457 (GRCm39) M762K probably damaging Het
Zfp462 G A 4: 55,011,762 (GRCm39) G1243S probably benign 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
Predicted Primers PCR Primer
(F):5'- TCAGCAGCCTGTCACTGGAGAATG -3'
(R):5'- GCCGCAATTTCTTCTGGGTAAAATAGC -3'

Sequencing Primer
(F):5'- ccactgagccatccttcc -3'
(R):5'- CTTCTGGGTAAAATAGCAACTGTGC -3'
Posted On 2013-05-09