Incidental Mutation 'IGL00939:Morc1'
ID29158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Morc1
Ensembl Gene ENSMUSG00000022652
Gene Namemicrorchidia 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.306) question?
Stock #IGL00939
Quality Score
Status
Chromosome16
Chromosomal Location48431237-48630900 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48452589 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 193 (C193Y)
Ref Sequence ENSEMBL: ENSMUSP00000023330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023330]
Predicted Effect probably damaging
Transcript: ENSMUST00000023330
AA Change: C193Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: C193Y

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
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 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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C A 5: 35,824,015 probably benign Het
Ash1l T C 3: 89,035,236 V2061A probably damaging Het
Csnk1a1 A G 18: 61,575,450 D194G probably damaging Het
Dopey2 T A 16: 93,774,083 S1657T possibly damaging Het
Hcn4 A G 9: 58,843,927 I279V probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lamb1 T C 12: 31,302,927 S828P probably damaging Het
Nudt16l1 T C 16: 4,939,435 F71L probably benign Het
Nup50 T G 15: 84,938,420 L381* probably null Het
Pccb A G 9: 100,985,869 S372P probably damaging Het
Rnf19b A G 4: 129,071,789 R227G probably damaging Het
Ror1 A G 4: 100,441,226 I599V probably benign Het
Sipa1l2 A G 8: 125,464,435 probably benign Het
Sowahb A T 5: 93,043,842 D339E probably benign Het
Ssc5d C T 7: 4,936,281 T572I possibly damaging Het
Tnn A G 1: 160,147,530 L109P probably damaging Het
Ttn T C 2: 76,710,081 Q34187R possibly damaging Het
Ube2j2 A G 4: 155,956,447 E177G possibly damaging Het
Vmn2r103 A G 17: 19,794,965 T456A probably benign Het
Wdr1 T C 5: 38,535,323 T80A probably benign Het
Other mutations in Morc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Morc1 APN 16 48612326 missense probably damaging 0.98
IGL00815:Morc1 APN 16 48460692 missense possibly damaging 0.62
IGL01321:Morc1 APN 16 48582462 missense probably benign 0.00
IGL01410:Morc1 APN 16 48612314 missense probably benign 0.16
IGL01557:Morc1 APN 16 48498766 missense probably damaging 1.00
IGL02118:Morc1 APN 16 48587104 missense probably benign 0.01
IGL02626:Morc1 APN 16 48615760 missense probably damaging 0.96
IGL02692:Morc1 APN 16 48510233 missense probably null 0.95
IGL02812:Morc1 APN 16 48558506 splice site probably benign
IGL03232:Morc1 APN 16 48630802 missense probably benign 0.06
IGL03331:Morc1 APN 16 48612368 splice site probably benign
IGL03408:Morc1 APN 16 48442412 missense probably damaging 1.00
R0545:Morc1 UTSW 16 48565657 missense probably benign 0.05
R0569:Morc1 UTSW 16 48587122 missense probably benign 0.02
R0699:Morc1 UTSW 16 48592614 missense probably benign 0.01
R1717:Morc1 UTSW 16 48452477 missense probably benign 0.01
R1728:Morc1 UTSW 16 48612297 missense probably benign 0.10
R1803:Morc1 UTSW 16 48622638 missense probably benign 0.14
R1864:Morc1 UTSW 16 48592530 missense probably benign 0.01
R2008:Morc1 UTSW 16 48565646 missense probably benign 0.41
R2070:Morc1 UTSW 16 48592611 missense probably benign 0.00
R2071:Morc1 UTSW 16 48592611 missense probably benign 0.00
R4851:Morc1 UTSW 16 48561617 missense probably benign 0.02
R5013:Morc1 UTSW 16 48502336 missense probably benign 0.11
R5081:Morc1 UTSW 16 48502352 missense probably benign 0.01
R5259:Morc1 UTSW 16 48630769 missense probably benign 0.12
R5342:Morc1 UTSW 16 48618509 missense probably damaging 0.99
R5481:Morc1 UTSW 16 48561485 intron probably null
R5561:Morc1 UTSW 16 48449348 missense probably benign 0.43
R6356:Morc1 UTSW 16 48437289 missense probably damaging 1.00
R6526:Morc1 UTSW 16 48587124 nonsense probably null
R6743:Morc1 UTSW 16 48502320 missense probably damaging 0.98
R6940:Morc1 UTSW 16 48479845 nonsense probably null
R6994:Morc1 UTSW 16 48565621 missense probably benign 0.00
R6994:Morc1 UTSW 16 48618546 missense probably benign 0.39
R7009:Morc1 UTSW 16 48627070 missense possibly damaging 0.69
R7346:Morc1 UTSW 16 48630900 splice site probably null
R7357:Morc1 UTSW 16 48622590 missense probably benign 0.14
R7448:Morc1 UTSW 16 48431345 missense probably damaging 0.97
R7840:Morc1 UTSW 16 48498784 missense probably benign 0.03
R7923:Morc1 UTSW 16 48498784 missense probably benign 0.03
X0013:Morc1 UTSW 16 48587068 missense probably benign 0.04
X0027:Morc1 UTSW 16 48498811 missense probably damaging 1.00
Z1176:Morc1 UTSW 16 48587058 missense probably benign 0.03
Z1177:Morc1 UTSW 16 48565706 missense probably benign 0.05
Posted On2013-04-17