Incidental Mutation 'IGL02503:Dmrtc1b'
ID 296139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrtc1b
Ensembl Gene ENSMUSG00000073027
Gene Name DMRT-like family C1b
Synonyms Dmrt8.2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02503
Quality Score
Status
Chromosome X
Chromosomal Location 101751487-101758815 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101758366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 199 (S199T)
Ref Sequence ENSEMBL: ENSMUSP00000113730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101324] [ENSMUST00000113609] [ENSMUST00000118842]
AlphaFold Q2PMX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000101324
AA Change: S238T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098880
Gene: ENSMUSG00000073027
AA Change: S238T

DomainStartEndE-ValueType
low complexity region 166 175 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113609
AA Change: S264T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109239
Gene: ENSMUSG00000073027
AA Change: S264T

DomainStartEndE-ValueType
low complexity region 192 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118842
AA Change: S199T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113730
Gene: ENSMUSG00000073027
AA Change: S199T

DomainStartEndE-ValueType
low complexity region 127 136 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,008,962 (GRCm39) W822R probably damaging Het
Ago4 A T 4: 126,390,598 (GRCm39) Y807* probably null Het
Alkbh8 G A 9: 3,347,852 (GRCm39) G215D probably damaging Het
Cfap57 C T 4: 118,426,545 (GRCm39) probably null Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Cyp4f17 T C 17: 32,743,940 (GRCm39) probably null Het
Dapk1 T A 13: 60,909,621 (GRCm39) Y1411* probably null Het
Elk4 A G 1: 131,942,277 (GRCm39) N50D probably damaging Het
Filip1l T A 16: 57,391,938 (GRCm39) V604E probably benign Het
Fmo3 A T 1: 162,796,433 (GRCm39) H46Q probably benign Het
Fndc1 T A 17: 7,990,348 (GRCm39) Y1116F unknown Het
Fpr-rs3 T A 17: 20,844,817 (GRCm39) N108I probably damaging Het
Glmn A T 5: 107,710,644 (GRCm39) M316K probably damaging Het
Gm5591 C A 7: 38,219,433 (GRCm39) R480I probably damaging Het
Gm8122 G T 14: 43,092,645 (GRCm39) R39S unknown Het
Gprasp1 T A X: 134,703,279 (GRCm39) Y1157* probably null Het
H2bc21 A G 3: 96,128,539 (GRCm39) T20A probably benign Het
Hsf1 T C 15: 76,382,870 (GRCm39) L370P probably benign Het
Iqsec1 T A 6: 90,645,770 (GRCm39) I809F probably damaging Het
Itsn1 G T 16: 91,686,092 (GRCm39) M54I possibly damaging Het
Klra2 T C 6: 131,207,057 (GRCm39) N184S probably benign Het
Lifr T A 15: 7,215,104 (GRCm39) V737E probably damaging Het
Lrpprc T C 17: 85,033,767 (GRCm39) T1037A probably benign Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Megf8 T C 7: 25,062,988 (GRCm39) V2448A possibly damaging Het
Mthfd1l T A 10: 4,033,824 (GRCm39) V737D probably damaging Het
Mtm1 A G X: 70,343,276 (GRCm39) T386A probably damaging Het
Muc5b T C 7: 141,421,404 (GRCm39) V4298A probably benign Het
Or10ag2 T G 2: 87,248,636 (GRCm39) F81L probably benign Het
Or5w18 A T 2: 87,632,864 (GRCm39) I44F probably benign Het
Or8k21 C T 2: 86,144,983 (GRCm39) G216R possibly damaging Het
Plch1 A G 3: 63,605,285 (GRCm39) S1531P probably damaging Het
Poc1b T A 10: 98,980,210 (GRCm39) probably benign Het
Rictor T A 15: 6,815,924 (GRCm39) N1065K probably benign Het
Rpsa A G 9: 119,957,659 (GRCm39) E35G possibly damaging Het
Scfd1 T A 12: 51,469,704 (GRCm39) D416E possibly damaging Het
Sdad1 A T 5: 92,449,661 (GRCm39) probably benign Het
Skor1 A G 9: 63,053,397 (GRCm39) S191P probably damaging Het
Slc28a2 T C 2: 122,288,693 (GRCm39) F600L probably benign Het
Tmem229b-ps A G 10: 53,351,250 (GRCm39) noncoding transcript Het
Top2b A G 14: 16,407,163 (GRCm38) M678V possibly damaging Het
Ttn T C 2: 76,617,107 (GRCm39) N8092S probably damaging Het
Ttn C T 2: 76,572,033 (GRCm39) V26287I probably damaging Het
Tulp4 T A 17: 6,263,666 (GRCm39) I345N probably damaging Het
U2surp C T 9: 95,384,622 (GRCm39) V21I probably benign Het
Ubr5 T C 15: 38,018,564 (GRCm39) T859A possibly damaging Het
Ubr5 T C 15: 38,018,558 (GRCm39) K861E probably damaging Het
Unc13d A G 11: 115,959,628 (GRCm39) V617A possibly damaging Het
Vmn2r10 T C 5: 109,151,341 (GRCm39) Y91C probably damaging Het
Vmn2r120 T A 17: 57,816,385 (GRCm39) I657F probably benign Het
Wwc2 T C 8: 48,302,418 (GRCm39) R931G unknown Het
Other mutations in Dmrtc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Dmrtc1b APN X 101,757,233 (GRCm39) missense probably benign 0.10
IGL02612:Dmrtc1b APN X 101,756,873 (GRCm39) missense probably benign
IGL02903:Dmrtc1b APN X 101,757,173 (GRCm39) missense probably benign 0.25
R6178:Dmrtc1b UTSW X 101,757,169 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16