Incidental Mutation 'R5891:Gmcl1'
ID 457175
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 044092-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.426) question?
Stock # R5891 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 86668750-86710365 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86684425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 366 (W366R)
Ref Sequence ENSEMBL: ENSMUSP00000001185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001185]
AlphaFold Q920G9
Predicted Effect probably damaging
Transcript: ENSMUST00000001185
AA Change: W366R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: W366R

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
Meta Mutation Damage Score 0.9318 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 96% (85/89)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,426,496 (GRCm39) T504S probably damaging Het
Adamtsl4 C A 3: 95,589,623 (GRCm39) R387L possibly damaging Het
Adgb G A 10: 10,253,591 (GRCm39) Q1224* probably null Het
Ankrd40 T A 11: 94,225,689 (GRCm39) F240Y probably damaging Het
Asnsd1 A T 1: 53,387,136 (GRCm39) Y164N probably benign Het
Atf7ip A T 6: 136,536,975 (GRCm39) E69D possibly damaging Het
Atm T C 9: 53,408,459 (GRCm39) T1129A probably benign Het
Atosa C G 9: 74,911,668 (GRCm39) C46W probably damaging Het
AU021092 T C 16: 5,029,995 (GRCm39) D340G probably benign Het
Baz2a T A 10: 127,957,191 (GRCm39) I978N probably damaging Het
BC034090 T C 1: 155,108,793 (GRCm39) probably benign Het
Bcl9 A G 3: 97,116,204 (GRCm39) L830P probably damaging Het
Bicral T C 17: 47,112,155 (GRCm39) N1015S probably benign Het
Ccdc9b T A 2: 118,591,864 (GRCm39) D92V probably damaging Het
Ceacam3 C A 7: 16,885,718 (GRCm39) T107N probably damaging Het
Cep83 T C 10: 94,561,537 (GRCm39) V109A probably benign Het
Ces1e A G 8: 93,929,894 (GRCm39) V463A possibly damaging Het
Ciao1 A G 2: 127,089,054 (GRCm39) V55A probably benign Het
Col19a1 T C 1: 24,328,806 (GRCm39) E900G probably damaging Het
Commd3 A G 2: 18,678,626 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,872 (GRCm39) I157T probably damaging Het
Cplane1 A G 15: 8,218,073 (GRCm39) I828V probably benign Het
Ctso T A 3: 81,861,561 (GRCm39) F311L probably benign Het
Cxcl10 A G 5: 92,496,083 (GRCm39) probably benign Het
Daam1 C A 12: 71,990,923 (GRCm39) T179N unknown Het
Ddx24 T C 12: 103,390,317 (GRCm39) K225E probably damaging Het
Dnajc16 T C 4: 141,502,703 (GRCm39) T278A probably benign Het
Dnajc2 A T 5: 21,966,709 (GRCm39) N345K possibly damaging Het
Dnpep G T 1: 75,288,456 (GRCm39) Q395K probably benign Het
Dync1h1 T C 12: 110,580,654 (GRCm39) probably null Het
Exoc1 A G 5: 76,689,991 (GRCm39) D177G probably damaging Het
Fam135b C T 15: 71,397,652 (GRCm39) R136H probably damaging Het
Filip1 T G 9: 79,727,142 (GRCm39) L492F possibly damaging Het
Flvcr2 A T 12: 85,843,002 (GRCm39) I359F possibly damaging Het
Htt A G 5: 35,028,167 (GRCm39) T1808A possibly damaging Het
Ighv5-4 C A 12: 113,561,249 (GRCm39) R57L probably damaging Het
Il12rb2 A T 6: 67,337,674 (GRCm39) I69N probably damaging Het
Irf5 A T 6: 29,529,424 (GRCm39) probably benign Het
Kif13b T G 14: 65,025,854 (GRCm39) probably null Het
Klkb1 T A 8: 45,723,703 (GRCm39) T571S probably benign Het
Mapkbp1 G T 2: 119,854,413 (GRCm39) E1337* probably null Het
Met A G 6: 17,491,538 (GRCm39) D100G probably benign Het
Mgam T A 6: 40,721,282 (GRCm39) D183E probably benign Het
Mrgprb13 T C 7: 47,962,007 (GRCm39) noncoding transcript Het
Mrgprx2 T C 7: 48,131,994 (GRCm39) T275A probably benign Het
Mroh2a C A 1: 88,169,337 (GRCm39) Q671K possibly damaging Het
Nckipsd T A 9: 108,685,808 (GRCm39) S42R probably damaging Het
Nlrp12 T A 7: 3,267,933 (GRCm39) probably benign Het
Or12j2 C T 7: 139,916,513 (GRCm39) T246I probably benign Het
Or12k8 T A 2: 36,974,990 (GRCm39) M257L probably benign Het
Or4k47 A T 2: 111,451,778 (GRCm39) L214M probably damaging Het
Or5p5 C T 7: 107,414,387 (GRCm39) P199S probably damaging Het
Otoa T A 7: 120,731,583 (GRCm39) probably null Het
Pfkm T A 15: 98,020,571 (GRCm39) C233* probably null Het
Pikfyve A G 1: 65,241,896 (GRCm39) Y212C probably damaging Het
Ptprq T A 10: 107,412,756 (GRCm39) D1781V possibly damaging Het
Pttg1ip A G 10: 77,418,274 (GRCm39) probably benign Het
Rab6a T A 7: 100,288,454 (GRCm39) probably null Het
Rbm11 C T 16: 75,395,725 (GRCm39) A132V possibly damaging Het
Septin4 G T 11: 87,479,750 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,575 (GRCm39) E210G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slco5a1 A G 1: 13,060,626 (GRCm39) F32L probably benign Het
Smad2 A G 18: 76,433,046 (GRCm39) E326G probably damaging Het
Sp9 T A 2: 73,104,595 (GRCm39) L383Q probably damaging Het
Stx11 T C 10: 12,817,559 (GRCm39) N55S probably damaging Het
Tbc1d15 T A 10: 115,056,213 (GRCm39) Q253L probably benign Het
Tcf7l1 T A 6: 72,614,034 (GRCm39) probably benign Het
Tdrd9 T A 12: 112,009,153 (GRCm39) S1020T probably damaging Het
Tead3 A T 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tnrc18 A G 5: 142,800,926 (GRCm39) S11P probably damaging Homo
Trpc3 G T 3: 36,725,171 (GRCm39) D268E probably damaging Het
Ttn A G 2: 76,576,085 (GRCm39) V23190A possibly damaging Het
Ubr4 T A 4: 139,135,937 (GRCm39) Y908* probably null Het
Urb2 G T 8: 124,757,595 (GRCm39) V1101L possibly damaging Het
Usp9y A T Y: 1,341,535 (GRCm39) D1375E probably benign Het
Zcchc7 T C 4: 44,895,838 (GRCm39) L262P probably damaging Het
Zdhhc7 T A 8: 120,811,639 (GRCm39) H188L probably benign Het
Zfp518a T A 19: 40,900,877 (GRCm39) C269S probably damaging Het
Zfp933 T C 4: 147,911,231 (GRCm39) K90E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTTAGTTATTCCTAAGTGGCTCCAC -3'
(R):5'- GTCACATTGTTAACAACCTGCTTTG -3'

Sequencing Primer
(F):5'- TAGGGTGAAGGTTCAAGC -3'
(R):5'- CAGGCAGATTTCTGAGTTCGAAGC -3'
Posted On 2017-02-15