Incidental Mutation 'IGL01323:Morc2b'
ID74108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Morc2b
Ensembl Gene ENSMUSG00000048602
Gene Namemicrorchidia 2B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.253) question?
Stock #IGL01323
Quality Score
Status
Chromosome17
Chromosomal Location33135588-33139683 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 33137319 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 493 (V493A)
Ref Sequence ENSEMBL: ENSMUSP00000123354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053896
AA Change: V493A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: V493A

DomainStartEndE-ValueType
HATPase_c 24 134 5.78e0 SMART
coiled coil region 285 321 N/A INTRINSIC
Pfam:zf-CW 495 541 1.9e-16 PFAM
coiled coil region 555 584 N/A INTRINSIC
low complexity region 680 695 N/A INTRINSIC
coiled coil region 961 1001 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131954
AA Change: V493A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: V493A

DomainStartEndE-ValueType
HATPase_c 24 134 5.78e0 SMART
coiled coil region 285 321 N/A INTRINSIC
Pfam:zf-CW 494 543 7.7e-18 PFAM
coiled coil region 555 584 N/A INTRINSIC
low complexity region 680 695 N/A INTRINSIC
coiled coil region 961 1001 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Ccdc77 T C 6: 120,334,796 Q247R probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Ighv8-6 T C 12: 115,165,857 D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt34 A G 11: 100,038,780 S267P possibly damaging Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Tnfrsf22 G A 7: 143,643,374 P76L probably damaging Het
Triml1 T C 8: 43,138,563 probably null Het
Upp1 A G 11: 9,136,100 *312W probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Morc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Morc2b APN 17 33138165 missense probably benign 0.12
IGL01533:Morc2b APN 17 33135721 utr 3 prime probably benign
IGL02003:Morc2b APN 17 33138324 missense probably benign 0.07
IGL02028:Morc2b APN 17 33137413 missense possibly damaging 0.78
IGL02152:Morc2b APN 17 33137943 missense probably damaging 1.00
IGL02341:Morc2b APN 17 33137307 missense probably damaging 1.00
IGL02976:Morc2b APN 17 33137523 missense possibly damaging 0.90
IGL03293:Morc2b APN 17 33138363 missense probably damaging 1.00
PIT4283001:Morc2b UTSW 17 33136068 missense probably benign 0.00
R0056:Morc2b UTSW 17 33138759 missense possibly damaging 0.78
R0116:Morc2b UTSW 17 33137041 missense probably damaging 1.00
R0179:Morc2b UTSW 17 33136982 nonsense probably null
R0533:Morc2b UTSW 17 33135932 nonsense probably null
R0556:Morc2b UTSW 17 33137838 missense probably benign 0.05
R0629:Morc2b UTSW 17 33135807 missense probably benign 0.00
R0635:Morc2b UTSW 17 33137687 missense possibly damaging 0.90
R0840:Morc2b UTSW 17 33136112 missense probably benign 0.01
R1205:Morc2b UTSW 17 33135934 missense probably damaging 1.00
R1566:Morc2b UTSW 17 33136974 missense probably benign 0.02
R1676:Morc2b UTSW 17 33135981 missense possibly damaging 0.82
R1892:Morc2b UTSW 17 33135774 missense probably damaging 1.00
R1954:Morc2b UTSW 17 33137490 missense probably damaging 1.00
R1955:Morc2b UTSW 17 33137490 missense probably damaging 1.00
R1969:Morc2b UTSW 17 33137091 missense probably benign 0.00
R2069:Morc2b UTSW 17 33136760 missense probably benign 0.13
R3609:Morc2b UTSW 17 33136278 missense probably damaging 1.00
R3610:Morc2b UTSW 17 33136278 missense probably damaging 1.00
R3831:Morc2b UTSW 17 33137259 missense probably benign 0.01
R4156:Morc2b UTSW 17 33138427 missense probably benign 0.43
R4243:Morc2b UTSW 17 33136401 missense probably benign 0.03
R4877:Morc2b UTSW 17 33138738 missense probably benign 0.26
R4911:Morc2b UTSW 17 33137377 missense probably damaging 1.00
R5230:Morc2b UTSW 17 33136252 missense probably benign 0.00
R5264:Morc2b UTSW 17 33138379 missense probably benign 0.03
R5326:Morc2b UTSW 17 33136933 missense probably benign 0.01
R5455:Morc2b UTSW 17 33138610 missense probably benign 0.29
R5933:Morc2b UTSW 17 33138609 missense possibly damaging 0.84
R5973:Morc2b UTSW 17 33137472 missense probably damaging 0.97
R6026:Morc2b UTSW 17 33137983 missense possibly damaging 0.55
R6113:Morc2b UTSW 17 33138068 nonsense probably null
R6393:Morc2b UTSW 17 33137776 missense probably damaging 0.97
R7066:Morc2b UTSW 17 33136636 missense probably benign 0.00
R7117:Morc2b UTSW 17 33137952 missense probably benign 0.00
R7120:Morc2b UTSW 17 33135813 missense probably damaging 1.00
R7130:Morc2b UTSW 17 33136288 missense possibly damaging 0.68
R7498:Morc2b UTSW 17 33137859 missense possibly damaging 0.55
R7516:Morc2b UTSW 17 33137461 missense probably benign 0.03
R7664:Morc2b UTSW 17 33136402 missense probably benign 0.12
R7754:Morc2b UTSW 17 33137244 missense probably benign 0.33
R7756:Morc2b UTSW 17 33137007 missense probably damaging 1.00
R7758:Morc2b UTSW 17 33137007 missense probably damaging 1.00
R7766:Morc2b UTSW 17 33138423 missense probably benign 0.19
Z1088:Morc2b UTSW 17 33136086 missense possibly damaging 0.49
Z1177:Morc2b UTSW 17 33137402 missense probably damaging 1.00
Posted On2013-10-07