Incidental Mutation 'IGL02015:Gmcl1'
ID 183689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmcl1
Ensembl Gene ENSMUSG00000001157
Gene Name germ cell-less, spermatogenesis associated 1
Synonyms mglc-1, Gcl, 2810049L19Rik, Btbd13
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.426) question?
Stock # IGL02015
Quality Score
Status
Chromosome 6
Chromosomal Location 86668750-86710365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86684439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 361 (V361A)
Ref Sequence ENSEMBL: ENSMUSP00000001185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001185]
AlphaFold Q920G9
Predicted Effect possibly damaging
Transcript: ENSMUST00000001185
AA Change: V361A

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: V361A

DomainStartEndE-ValueType
low complexity region 23 38 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
BTB 106 206 3.76e-11 SMART
BACK 211 298 3.6e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired nuclear membrane integrity in liver, endocrine pancreas, and testis. Mutant males show reduced fertility with decreased chromatin condensation and morphologically abnormal sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,420,098 (GRCm39) probably null Het
C1qtnf12 A G 4: 156,047,201 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D430041D05Rik A G 2: 104,060,749 (GRCm39) Y1382H probably damaging Het
Fut1 A T 7: 45,268,399 (GRCm39) M118L probably damaging Het
Fzd5 A T 1: 64,775,501 (GRCm39) C87S probably damaging Het
Inpp4a T G 1: 37,428,793 (GRCm39) F700V probably damaging Het
Klk1b21 A T 7: 43,753,782 (GRCm39) Q22L probably benign Het
Lrp2 T A 2: 69,357,922 (GRCm39) Q369L probably benign Het
Mtor C T 4: 148,624,570 (GRCm39) Q2117* probably null Het
Naip2 A T 13: 100,298,115 (GRCm39) S640R possibly damaging Het
Nt5e T C 9: 88,249,290 (GRCm39) I408T probably damaging Het
Or10ab5 T A 7: 108,245,220 (GRCm39) N188Y probably damaging Het
Or51h5 G A 7: 102,577,399 (GRCm39) R188H probably benign Het
Or8d2 T C 9: 38,760,090 (GRCm39) S227P probably damaging Het
Plxna1 A G 6: 89,319,433 (GRCm39) L590P probably damaging Het
Ppp1r35 T C 5: 137,778,293 (GRCm39) probably benign Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Ptprg A T 14: 12,237,782 (GRCm38) N1413I possibly damaging Het
Ranbp10 C A 8: 106,506,622 (GRCm39) G233C probably damaging Het
Rapgef2 A G 3: 78,999,371 (GRCm39) probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Scaf4 T C 16: 90,055,734 (GRCm39) S108G unknown Het
Scn10a C T 9: 119,494,017 (GRCm39) V430M probably benign Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Skint2 C T 4: 112,481,325 (GRCm39) R63* probably null Het
Slc35b4 A T 6: 34,147,483 (GRCm39) V35D probably damaging Het
Slc6a3 A T 13: 73,692,833 (GRCm39) Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 (GRCm39) T689I possibly damaging Het
Tbx21 T C 11: 96,989,740 (GRCm39) D484G probably benign Het
Tln2 C T 9: 67,268,721 (GRCm39) probably benign Het
Traf3 A G 12: 111,219,174 (GRCm39) N242S probably benign Het
Tut7 A G 13: 59,937,072 (GRCm39) Y790H probably damaging Het
Xiap T A X: 41,185,487 (GRCm39) probably benign Het
Other mutations in Gmcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03354:Gmcl1 APN 6 86,703,140 (GRCm39) missense probably damaging 1.00
PIT4453001:Gmcl1 UTSW 6 86,681,520 (GRCm39) missense probably benign 0.09
R0149:Gmcl1 UTSW 6 86,709,891 (GRCm39) critical splice donor site probably null
R1398:Gmcl1 UTSW 6 86,691,244 (GRCm39) splice site probably benign
R1869:Gmcl1 UTSW 6 86,674,498 (GRCm39) missense probably benign 0.20
R1871:Gmcl1 UTSW 6 86,674,498 (GRCm39) missense probably benign 0.20
R2851:Gmcl1 UTSW 6 86,703,159 (GRCm39) missense probably damaging 0.99
R4584:Gmcl1 UTSW 6 86,699,605 (GRCm39) missense probably damaging 1.00
R4585:Gmcl1 UTSW 6 86,699,605 (GRCm39) missense probably damaging 1.00
R4664:Gmcl1 UTSW 6 86,709,980 (GRCm39) missense probably benign 0.30
R4851:Gmcl1 UTSW 6 86,681,538 (GRCm39) missense possibly damaging 0.64
R4957:Gmcl1 UTSW 6 86,687,503 (GRCm39) missense probably damaging 1.00
R5326:Gmcl1 UTSW 6 86,703,127 (GRCm39) missense possibly damaging 0.96
R5482:Gmcl1 UTSW 6 86,695,055 (GRCm39) missense probably damaging 1.00
R5496:Gmcl1 UTSW 6 86,674,507 (GRCm39) missense probably damaging 0.97
R5817:Gmcl1 UTSW 6 86,691,230 (GRCm39) missense probably damaging 1.00
R5854:Gmcl1 UTSW 6 86,691,241 (GRCm39) splice site silent
R5891:Gmcl1 UTSW 6 86,684,425 (GRCm39) missense probably damaging 1.00
R5895:Gmcl1 UTSW 6 86,688,596 (GRCm39) missense probably benign 0.03
R6012:Gmcl1 UTSW 6 86,698,394 (GRCm39) missense probably damaging 1.00
R6257:Gmcl1 UTSW 6 86,677,623 (GRCm39) missense possibly damaging 0.82
R7693:Gmcl1 UTSW 6 86,691,239 (GRCm39) missense probably benign 0.10
R7698:Gmcl1 UTSW 6 86,684,397 (GRCm39) missense probably benign 0.00
R7999:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8049:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8093:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8109:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8110:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8111:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8154:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8157:Gmcl1 UTSW 6 86,698,408 (GRCm39) missense probably damaging 1.00
R8208:Gmcl1 UTSW 6 86,698,381 (GRCm39) missense probably damaging 0.99
R8250:Gmcl1 UTSW 6 86,698,384 (GRCm39) missense possibly damaging 0.72
R8509:Gmcl1 UTSW 6 86,699,589 (GRCm39) missense probably damaging 1.00
R9264:Gmcl1 UTSW 6 86,691,195 (GRCm39) missense probably benign 0.25
R9308:Gmcl1 UTSW 6 86,691,239 (GRCm39) missense possibly damaging 0.87
R9350:Gmcl1 UTSW 6 86,677,569 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07