Incidental Mutation 'IGL02626:Morc1'
ID301110
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: 0.260) question?
Stock #IGL02626
Quality Score
Status
Chromosome16
Chromosomal Location48431237-48630900 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 48615760 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 753 (S753G)
Ref Sequence ENSEMBL: ENSMUSP00000023330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023330]
Predicted Effect probably damaging
Transcript: ENSMUST00000023330
AA Change: S753G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023330
Gene: ENSMUSG00000022652
AA Change: S753G

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: ENSMUST00000232195
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,065,609 K1236E probably damaging Het
Actl7a A T 4: 56,744,353 E293D possibly damaging Het
Adamts2 T C 11: 50,776,255 Y460H probably damaging Het
Aoc1 G A 6: 48,906,110 V307I probably benign Het
Ar C T X: 98,314,886 H756Y probably damaging Het
Atg3 C T 16: 45,183,685 R224W probably benign Het
Atp5o G A 16: 91,686,313 P47S probably damaging Het
Bicd1 A G 6: 149,409,556 E43G probably damaging Het
Ccdc129 T A 6: 55,968,646 V784D probably benign Het
Ccdc88c A G 12: 100,967,800 probably benign Het
Cd33 A G 7: 43,530,312 probably benign Het
Cd36 T A 5: 17,797,128 R292* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh23 T C 10: 60,391,801 D1167G probably damaging Het
Cdk5rap1 A G 2: 154,365,960 probably null Het
Chd6 A G 2: 161,039,350 probably benign Het
Chd7 A T 4: 8,826,519 Y961F probably damaging Het
Cpe T C 8: 64,692,795 E52G probably benign Het
Cpne5 C T 17: 29,160,337 G491S probably damaging Het
Csmd3 A T 15: 47,704,107 probably benign Het
Ctbp2 T A 7: 132,999,211 T608S probably benign Het
Cybb A G X: 9,469,200 probably null Het
Daam2 T C 17: 49,490,254 T168A possibly damaging Het
Dnah5 G T 15: 28,307,276 V1717F possibly damaging Het
Dse G A 10: 34,153,162 T644I probably damaging Het
Dtd2 A C 12: 52,004,925 Y45* probably null Het
Fgfr1op2 T A 6: 146,590,011 M124K probably benign Het
Flii T C 11: 60,719,859 D537G probably benign Het
Fntb T A 12: 76,897,371 I217N probably benign Het
Foxi1 A G 11: 34,205,860 S257P probably benign Het
Fyn G A 10: 39,526,802 R190H probably damaging Het
Gm28557 T A 13: 67,074,944 T8S probably benign Het
Gramd1b T C 9: 40,298,010 K873E probably damaging Het
Grb10 T C 11: 11,945,503 T329A probably benign Het
Haus5 A G 7: 30,657,250 L477P probably damaging Het
Hectd4 A T 5: 121,353,881 E3761V possibly damaging Het
Ift172 T C 5: 31,264,496 I930V probably benign Het
Izumo2 A G 7: 44,709,136 probably benign Het
Map4k4 A G 1: 40,014,097 probably benign Het
Mpzl2 C T 9: 45,044,292 T167I probably damaging Het
Mta2 T A 19: 8,949,168 I491N probably damaging Het
Myo18b A T 5: 112,878,085 I33N unknown Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Olfr1311 A T 2: 112,021,113 V247E probably damaging Het
Olfr1337 T C 4: 118,782,334 M84V probably damaging Het
Olfr74 T C 2: 87,973,724 N314D probably benign Het
Olfr926 T C 9: 38,877,488 L104S probably benign Het
Ralyl A T 3: 13,777,034 M77L probably benign Het
Rap1gap T A 4: 137,727,053 V649E probably benign Het
Rnf40 C A 7: 127,596,572 Q663K probably damaging Het
Slc22a18 T C 7: 143,499,100 L354P probably damaging Het
Slc9a8 T C 2: 167,467,677 probably benign Het
Surf4 C T 2: 26,925,607 probably null Het
T A T 17: 8,435,237 N85Y probably damaging Het
Tanc1 A G 2: 59,799,872 E732G probably damaging Het
Tas2r138 A G 6: 40,612,715 V199A possibly damaging Het
Trim43b T C 9: 89,085,488 Y365C possibly damaging Het
Ubd T C 17: 37,195,682 L153P probably damaging Het
Xpnpep2 A C X: 48,126,909 M513L probably benign Het
Zar1l C T 5: 150,517,745 G139R probably damaging Het
Zc3hav1 T G 6: 38,332,991 T299P probably damaging Het
Zfp236 C A 18: 82,657,995 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
IGL00939:Morc1 APN 16 48452589 missense probably damaging 0.99
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
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
X0013:Morc1 UTSW 16 48587068 missense probably benign 0.04
X0027:Morc1 UTSW 16 48498811 missense probably damaging 1.00
Posted On2015-04-16