Incidental Mutation 'IGL02341:Morc2b'
ID289064
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 #IGL02341
Quality Score
Status
Chromosome17
Chromosomal Location33135588-33139683 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33137307 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 497 (I497K)
Ref Sequence ENSEMBL: ENSMUSP00000123354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]
Predicted Effect probably damaging
Transcript: ENSMUST00000053896
AA Change: I497K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: I497K

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 probably damaging
Transcript: ENSMUST00000131954
AA Change: I497K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: I497K

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T C 11: 58,612,830 S17G possibly damaging Het
Arid2 C T 15: 96,372,185 S1393L probably benign Het
Bahcc1 T A 11: 120,272,520 I548N probably damaging Het
Baiap3 A T 17: 25,248,316 L405Q possibly damaging Het
Cacna1g T G 11: 94,462,152 Q349P probably damaging Het
Ccdc30 T C 4: 119,356,781 T184A possibly damaging Het
Ccdc63 A G 5: 122,113,198 I383T probably benign Het
Ccnk A G 12: 108,195,730 E298G unknown Het
Ccnt1 T C 15: 98,546,783 E223G possibly damaging Het
Clcc1 T A 3: 108,673,383 L333I possibly damaging Het
Cyp2b10 G A 7: 25,911,242 R59Q probably benign Het
Cyp3a41b T A 5: 145,573,651 T138S probably benign Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dnah8 A T 17: 30,747,257 I2474F probably damaging Het
Dok1 T C 6: 83,033,054 T25A probably damaging Het
Ears2 G A 7: 122,039,764 A479V probably benign Het
Erc1 T A 6: 119,594,973 I981F possibly damaging Het
Fam129c A T 8: 71,603,799 N381I possibly damaging Het
Gm8730 A G 8: 102,865,143 noncoding transcript Het
Gm9962 C T 7: 57,387,294 probably benign Het
Has3 A T 8: 106,874,005 Y33F probably damaging Het
Hk1 A G 10: 62,284,380 S607P possibly damaging Het
Hlcs T A 16: 94,231,110 I612F probably damaging Het
Llgl2 T A 11: 115,851,120 S663T possibly damaging Het
Lrriq1 T C 10: 103,224,941 H100R probably benign Het
Magi2 T A 5: 20,466,203 I678N probably damaging Het
Megf11 G A 9: 64,544,620 G109S probably damaging Het
Mybpc2 A C 7: 44,514,930 S404A probably benign Het
Mylip A G 13: 45,391,276 R59G probably damaging Het
Mylk3 A T 8: 85,351,972 I501N probably damaging Het
Myo19 A G 11: 84,888,045 probably benign Het
Nat2 A G 8: 67,501,718 Y160C possibly damaging Het
Nf1 C T 11: 79,564,926 A2554V probably benign Het
Ninl A T 2: 150,944,605 C153* probably null Het
Nlrp5 C T 7: 23,404,152 R15C probably benign Het
Nphp4 A T 4: 152,555,469 probably benign Het
Obscn C A 11: 59,135,825 R184L probably benign Het
Olfr767 A T 10: 129,079,461 C167* probably null Het
Olfr771 T A 10: 129,160,433 I184F probably benign Het
Olfr804 A T 10: 129,705,489 T204S probably damaging Het
Phip A T 9: 82,932,883 V262D probably damaging Het
Ptprg T A 14: 12,154,360 S694T probably benign Het
Reck T A 4: 43,925,160 D466E probably damaging Het
Rimbp2 G T 5: 128,800,961 Y213* probably null Het
Scn2a C T 2: 65,688,377 T365M probably damaging Het
Scpep1 T A 11: 88,944,488 T120S probably benign Het
Sp7 T A 15: 102,359,222 T50S possibly damaging Het
Tbc1d1 A G 5: 64,275,407 R304G probably damaging Het
Tiam1 A G 16: 89,898,369 S67P probably damaging Het
Tjp1 G A 7: 65,312,634 T1185I probably damaging Het
Tspan2 T A 3: 102,765,213 I178N probably damaging Het
Tusc2 T A 9: 107,564,910 *103R probably null Het
Uggt1 A T 1: 36,164,519 *47R probably null Het
Unc13c T A 9: 73,933,210 I120F possibly damaging Het
Vcpip1 T A 1: 9,724,950 K1065N possibly damaging Het
Zfp532 C A 18: 65,624,778 P594Q probably 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
IGL02028:Morc2b APN 17 33137413 missense possibly damaging 0.78
IGL02152:Morc2b APN 17 33137943 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 On2015-04-16