Incidental Mutation 'IGL01669:Rmnd5b'
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ID103403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rmnd5b
Ensembl Gene ENSMUSG00000001054
Gene Namerequired for meiotic nuclear division 5 homolog B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01669
Quality Score
Status
Chromosome11
Chromosomal Location51623671-51635896 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 51627900 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 89 (V89M)
Ref Sequence ENSEMBL: ENSMUSP00000120636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001081] [ENSMUST00000127405] [ENSMUST00000136020]
Predicted Effect probably damaging
Transcript: ENSMUST00000001081
AA Change: V89M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001081
Gene: ENSMUSG00000001054
AA Change: V89M

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
CRA 210 304 1.63e-21 SMART
Pfam:zf-RING_UBOX 338 377 3.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000001083
Predicted Effect probably benign
Transcript: ENSMUST00000127405
SMART Domains Protein: ENSMUSP00000120014
Gene: ENSMUSG00000001056

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 45 139 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132854
Predicted Effect probably damaging
Transcript: ENSMUST00000136020
AA Change: V89M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120636
Gene: ENSMUSG00000001054
AA Change: V89M

DomainStartEndE-ValueType
LisH 116 148 3.6e-4 SMART
CTLH 155 212 7.82e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147009
SMART Domains Protein: ENSMUSP00000118594
Gene: ENSMUSG00000001054

DomainStartEndE-ValueType
Pfam:CLTH 1 91 1.4e-11 PFAM
Pfam:zf-RING_UBOX 130 169 3.1e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Rmnd5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02827:Rmnd5b APN 11 51628022 missense possibly damaging 0.95
R0092:Rmnd5b UTSW 11 51629592 missense possibly damaging 0.90
R1886:Rmnd5b UTSW 11 51627638 missense probably damaging 1.00
R4556:Rmnd5b UTSW 11 51626905 splice site probably null
R4996:Rmnd5b UTSW 11 51627908 missense probably damaging 0.99
R5283:Rmnd5b UTSW 11 51627060 missense probably damaging 1.00
R5590:Rmnd5b UTSW 11 51627962 missense probably damaging 1.00
R6119:Rmnd5b UTSW 11 51625709 missense probably benign 0.21
R6993:Rmnd5b UTSW 11 51624600 intron probably benign
R7128:Rmnd5b UTSW 11 51624537 missense possibly damaging 0.91
Posted On2014-01-21