Incidental Mutation 'R8509:Gmcl1'
ID 655753
Institutional Source Beutler Lab
Gene Symbol Gmcl1
Ensembl Gene ENSMUSG00000001157
Gene Name germ cell-less, spermatogenesis associated 1
Synonyms mglc-1, Gcl, 2810049L19Rik, Btbd13
MMRRC Submission 067944-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.426) question?
Stock # R8509 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86668750-86710365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86699589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 146 (I146S)
Ref Sequence ENSEMBL: ENSMUSP00000001185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001185] [ENSMUST00000113679]
AlphaFold Q920G9
Predicted Effect probably damaging
Transcript: ENSMUST00000001185
AA Change: I146S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: I146S

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
Predicted Effect probably damaging
Transcript: ENSMUST00000113679
AA Change: I146S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109309
Gene: ENSMUSG00000001157
AA Change: I146S

DomainStartEndE-ValueType
low complexity region 23 38 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
Pfam:BTB 96 195 5.5e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (44/44)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,703,669 (GRCm39) S181P possibly damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ano3 T C 2: 110,496,180 (GRCm39) E858G possibly damaging Het
Asrgl1 T C 19: 9,091,590 (GRCm39) K244E probably damaging Het
BC048679 T A 7: 81,145,116 (GRCm39) T82S probably benign Het
Brip1 A T 11: 86,088,774 (GRCm39) C42* probably null Het
Cabcoco1 T C 10: 68,267,119 (GRCm39) E296G probably damaging Het
Ccnb1ip1 T C 14: 51,029,714 (GRCm39) N116S probably benign Het
Cep95 A G 11: 106,695,876 (GRCm39) E214G probably benign Het
Cyp11b1 A G 15: 74,711,202 (GRCm39) F159L possibly damaging Het
Dmxl2 C A 9: 54,335,341 (GRCm39) E660* probably null Het
Dnah14 C T 1: 181,642,220 (GRCm39) T112M Het
Fancd2 A G 6: 113,549,531 (GRCm39) T74A probably benign Het
Fat4 G T 3: 39,036,052 (GRCm39) V3235L probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Hbb-bs T A 7: 103,475,919 (GRCm39) K133* probably null Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hmcn1 T A 1: 150,449,302 (GRCm39) K5446* probably null Het
Hyal6 A T 6: 24,734,605 (GRCm39) E179D probably damaging Het
Inpp5b T A 4: 124,637,698 (GRCm39) probably null Het
Lrba A G 3: 86,255,483 (GRCm39) K942E probably benign Het
Lrrcc1 A G 3: 14,601,567 (GRCm39) N110S probably damaging Het
Mcoln3 A G 3: 145,830,647 (GRCm39) I126V probably benign Het
Ncoa7 T C 10: 30,572,048 (GRCm39) I242V probably benign Het
Ndufb4 A G 16: 37,469,506 (GRCm39) I66T probably benign Het
Npffr2 T C 5: 89,731,188 (GRCm39) S373P possibly damaging Het
Or5d20-ps1 T C 2: 87,931,866 (GRCm39) Y155C probably benign Het
Pi4ka A T 16: 17,172,008 (GRCm39) I579N Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ripk2 T C 4: 16,124,436 (GRCm39) E424G probably benign Het
Rnf19b T A 4: 128,967,369 (GRCm39) C304S probably damaging Het
Rtp1 T C 16: 23,248,064 (GRCm39) W46R probably damaging Het
Ryr2 A G 13: 11,592,664 (GRCm39) probably null Het
Sbf1 A T 15: 89,177,660 (GRCm39) D1674E probably damaging Het
Sgf29 T A 7: 126,270,834 (GRCm39) probably benign Het
Slc22a8 T C 19: 8,585,339 (GRCm39) probably null Het
Smg6 T C 11: 74,932,702 (GRCm39) S998P probably benign Het
Spata31h1 A G 10: 82,126,950 (GRCm39) V2020A probably benign Het
Srgap3 G A 6: 112,708,297 (GRCm39) Q801* probably null Het
Taf4b A G 18: 15,031,112 (GRCm39) D832G probably damaging Het
Trim12a T C 7: 103,955,234 (GRCm39) D163G probably benign Het
Trim46 A G 3: 89,153,020 (GRCm39) probably null Het
Trpm4 A G 7: 44,971,785 (GRCm39) V274A probably damaging Het
Unc80 A G 1: 66,680,788 (GRCm39) D2128G possibly damaging Het
Other mutations in Gmcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Gmcl1 APN 6 86,684,439 (GRCm39) missense possibly damaging 0.52
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
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
Predicted Primers PCR Primer
(F):5'- AGCGACTGACTGAACTCCTAG -3'
(R):5'- AGTTCACTCTACCTCATAATGGC -3'

Sequencing Primer
(F):5'- CTGACTGAACTCCTAGGACTAAATAG -3'
(R):5'- ACGTGTTTTGATGATCTTTTTCTCC -3'
Posted On 2020-10-20