Incidental Mutation 'IGL02028:Morc2b'
ID184244
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: 0.312) question?
Stock #IGL02028
Quality Score
Status
Chromosome17
Chromosomal Location33135588-33139683 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33137413 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 462 (I462F)
Ref Sequence ENSEMBL: ENSMUSP00000123354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]
Predicted Effect possibly damaging
Transcript: ENSMUST00000053896
AA Change: I462F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: I462F

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: I462F

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: I462F

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,434,283 Y53C probably damaging Het
Acacb T A 5: 114,166,015 D166E probably damaging Het
Akap8l T C 17: 32,338,521 probably null Het
Arl6ip5 A G 6: 97,229,650 Y97C probably damaging Het
Atad5 T A 11: 80,134,110 S1772R probably benign Het
Ccdc106 A G 7: 5,059,646 Q155R probably damaging Het
Ccdc33 T C 9: 58,076,578 N446S probably benign Het
Cd3eap T C 7: 19,357,078 K368R probably damaging Het
Cdh2 T C 18: 16,650,420 D84G probably benign Het
Cntn6 A G 6: 104,859,426 K918E probably damaging Het
Dock6 T C 9: 21,838,826 D521G probably damaging Het
Etv6 C T 6: 134,248,733 A309V probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Figla T C 6: 86,017,363 L40P probably damaging Het
Gabra4 T A 5: 71,633,596 Q301L probably damaging Het
Glt1d1 G A 5: 127,706,920 V313M possibly damaging Het
Gm28778 T A 1: 53,317,961 I94K possibly damaging Het
Gm4847 T C 1: 166,642,196 K103E probably benign Het
Gne A G 4: 44,066,852 S23P probably damaging Het
Hipk2 A G 6: 38,818,756 C186R possibly damaging Het
Lrp1b C T 2: 41,511,452 V283I probably damaging Het
Mcm10 A T 2: 5,008,700 D40E possibly damaging Het
Myh1 T A 11: 67,210,615 I711N probably damaging Het
Oit3 A G 10: 59,438,655 F108L probably damaging Het
Olfr1289 T C 2: 111,483,471 F14L probably benign Het
Olfr913 T A 9: 38,594,419 L66* probably null Het
Rbm19 A G 5: 120,120,236 D172G probably damaging Het
Ribc2 A G 15: 85,143,335 D339G possibly damaging Het
Rras2 C A 7: 114,060,362 V56L probably benign Het
Scn2a A G 2: 65,763,658 E1617G probably damaging Het
Slc13a1 T A 6: 24,118,031 M236L probably benign Het
Snrnp27 C T 6: 86,682,973 R13H unknown Het
Srgap2 T C 1: 131,296,435 K92E probably damaging Het
Suco T C 1: 161,856,859 K231E possibly damaging Het
Tll2 C A 19: 41,098,649 E588* probably null Het
Tmem215 A T 4: 40,473,940 I6L possibly damaging Het
Tnc A C 4: 63,966,672 probably benign Het
Tob1 G A 11: 94,214,226 G196D probably benign Het
Ubtfl1 T A 9: 18,409,553 Y126N possibly damaging Het
Uck1 G T 2: 32,258,137 Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,030,884 noncoding transcript Het
Vmn1r88 C T 7: 13,177,792 S25L probably benign Het
Vmn2r109 T G 17: 20,541,080 I672L probably benign Het
Vmn2r23 T C 6: 123,741,860 F724S probably damaging Het
Vmn2r54 A T 7: 12,632,161 F282Y probably damaging Het
Vmn2r82 A T 10: 79,379,223 I347F probably benign Het
Wasf2 G A 4: 133,195,801 R474H probably damaging Het
Wdr60 C A 12: 116,256,061 R87L probably benign Het
Zmym5 T C 14: 56,804,160 H162R possibly damaging Het
Other mutations in Morc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Morc2b APN 17 33137319 missense possibly damaging 0.47
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
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
twinkle UTSW 17 33135932 nonsense probably null
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
R7957:Morc2b UTSW 17 33135773 missense probably benign 0.39
R7965:Morc2b UTSW 17 33135772 missense possibly damaging 0.91
R8164:Morc2b UTSW 17 33138040 missense probably damaging 0.99
R8283:Morc2b UTSW 17 33136701 missense probably benign 0.00
R8338:Morc2b UTSW 17 33136413 missense probably benign
R8349:Morc2b UTSW 17 33136801 missense probably benign 0.13
R8352:Morc2b UTSW 17 33137502 missense probably damaging 1.00
R8362:Morc2b UTSW 17 33138321 missense possibly damaging 0.91
R8364:Morc2b UTSW 17 33138240 missense probably benign 0.01
R8449:Morc2b UTSW 17 33136801 missense probably benign 0.13
R8452:Morc2b UTSW 17 33137502 missense probably damaging 1.00
Z1088:Morc2b UTSW 17 33136086 missense possibly damaging 0.49
Z1177:Morc2b UTSW 17 33137402 missense probably damaging 1.00
Posted On2014-05-07