Incidental Mutation 'R5081:Morc1'
ID 387153
Institutional Source Beutler Lab
Gene Symbol Morc1
Ensembl Gene ENSMUSG00000022652
Gene Name microrchidia 1
Synonyms
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 48251600-48451263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 48322715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 337 (S337R)
Ref Sequence ENSEMBL: ENSMUSP00000023330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023330]
AlphaFold Q9WVL5
Predicted Effect probably benign
Transcript: ENSMUST00000023330
AA Change: S337R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: S337R

DomainStartEndE-ValueType
Pfam:HATPase_c_3 24 161 3.8e-21 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 281 311 N/A INTRINSIC
Pfam:zf-CW 481 528 2e-14 PFAM
low complexity region 639 651 N/A INTRINSIC
coiled coil region 885 916 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232256
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]
PHENOTYPE: Inactivation of this locus results in small testes and male sterility, the latter owing to meiotic arrest. Mutant females exhibited histologically normal ovaries and were fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Morc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Morc1 APN 16 48,432,689 (GRCm39) missense probably damaging 0.98
IGL00815:Morc1 APN 16 48,281,055 (GRCm39) missense possibly damaging 0.62
IGL00939:Morc1 APN 16 48,272,952 (GRCm39) missense probably damaging 0.99
IGL01321:Morc1 APN 16 48,402,825 (GRCm39) missense probably benign 0.00
IGL01410:Morc1 APN 16 48,432,677 (GRCm39) missense probably benign 0.16
IGL01557:Morc1 APN 16 48,319,129 (GRCm39) missense probably damaging 1.00
IGL02118:Morc1 APN 16 48,407,467 (GRCm39) missense probably benign 0.01
IGL02626:Morc1 APN 16 48,436,123 (GRCm39) missense probably damaging 0.96
IGL02692:Morc1 APN 16 48,330,596 (GRCm39) missense probably null 0.95
IGL02812:Morc1 APN 16 48,378,869 (GRCm39) splice site probably benign
IGL03232:Morc1 APN 16 48,451,165 (GRCm39) missense probably benign 0.06
IGL03331:Morc1 APN 16 48,432,731 (GRCm39) splice site probably benign
IGL03408:Morc1 APN 16 48,262,775 (GRCm39) missense probably damaging 1.00
R0545:Morc1 UTSW 16 48,386,020 (GRCm39) missense probably benign 0.05
R0569:Morc1 UTSW 16 48,407,485 (GRCm39) missense probably benign 0.02
R0699:Morc1 UTSW 16 48,412,977 (GRCm39) missense probably benign 0.01
R1717:Morc1 UTSW 16 48,272,840 (GRCm39) missense probably benign 0.01
R1728:Morc1 UTSW 16 48,432,660 (GRCm39) missense probably benign 0.10
R1803:Morc1 UTSW 16 48,443,001 (GRCm39) missense probably benign 0.14
R1864:Morc1 UTSW 16 48,412,893 (GRCm39) missense probably benign 0.01
R2008:Morc1 UTSW 16 48,386,009 (GRCm39) missense probably benign 0.41
R2070:Morc1 UTSW 16 48,412,974 (GRCm39) missense probably benign 0.00
R2071:Morc1 UTSW 16 48,412,974 (GRCm39) missense probably benign 0.00
R4851:Morc1 UTSW 16 48,381,980 (GRCm39) missense probably benign 0.02
R5013:Morc1 UTSW 16 48,322,699 (GRCm39) missense probably benign 0.11
R5259:Morc1 UTSW 16 48,451,132 (GRCm39) missense probably benign 0.12
R5342:Morc1 UTSW 16 48,438,872 (GRCm39) missense probably damaging 0.99
R5481:Morc1 UTSW 16 48,381,848 (GRCm39) splice site probably null
R5561:Morc1 UTSW 16 48,269,711 (GRCm39) missense probably benign 0.43
R6356:Morc1 UTSW 16 48,257,652 (GRCm39) missense probably damaging 1.00
R6526:Morc1 UTSW 16 48,407,487 (GRCm39) nonsense probably null
R6743:Morc1 UTSW 16 48,322,683 (GRCm39) missense probably damaging 0.98
R6940:Morc1 UTSW 16 48,300,208 (GRCm39) nonsense probably null
R6994:Morc1 UTSW 16 48,438,909 (GRCm39) missense probably benign 0.39
R6994:Morc1 UTSW 16 48,385,984 (GRCm39) missense probably benign 0.00
R7009:Morc1 UTSW 16 48,447,433 (GRCm39) missense possibly damaging 0.69
R7346:Morc1 UTSW 16 48,451,263 (GRCm39) splice site probably null
R7357:Morc1 UTSW 16 48,442,953 (GRCm39) missense probably benign 0.14
R7448:Morc1 UTSW 16 48,251,708 (GRCm39) missense probably damaging 0.97
R7840:Morc1 UTSW 16 48,319,147 (GRCm39) missense probably benign 0.03
R8417:Morc1 UTSW 16 48,281,103 (GRCm39) missense probably damaging 0.99
X0013:Morc1 UTSW 16 48,407,431 (GRCm39) missense probably benign 0.04
X0027:Morc1 UTSW 16 48,319,174 (GRCm39) missense probably damaging 1.00
Z1176:Morc1 UTSW 16 48,407,421 (GRCm39) missense probably benign 0.03
Z1177:Morc1 UTSW 16 48,386,069 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AACACTGGGATGAAGCCTATTG -3'
(R):5'- TTAGTTGGGGAAGCCTCATCAC -3'

Sequencing Primer
(F):5'- GAGTTCCTGCCATTCGAACTG -3'
(R):5'- TTGGGGAAGCCTCATCACATTAAG -3'
Posted On 2016-06-06