Incidental Mutation 'IGL02903:Dmrtc1b'
ID363709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmrtc1b
Ensembl Gene ENSMUSG00000073027
Gene NameDMRT-like family C1b
SynonymsDmrt8.2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #IGL02903
Quality Score
Status
ChromosomeX
Chromosomal Location102707865-102715209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102713567 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 206 (L206Q)
Ref Sequence ENSEMBL: ENSMUSP00000109239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101324] [ENSMUST00000113609] [ENSMUST00000118842]
Predicted Effect probably benign
Transcript: ENSMUST00000101324
AA Change: L180Q

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098880
Gene: ENSMUSG00000073027
AA Change: L180Q

DomainStartEndE-ValueType
low complexity region 166 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113609
AA Change: L206Q

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109239
Gene: ENSMUSG00000073027
AA Change: L206Q

DomainStartEndE-ValueType
low complexity region 192 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118842
AA Change: L141Q

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113730
Gene: ENSMUSG00000073027
AA Change: L141Q

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,269,778 R3150M unknown Het
2410089E03Rik G T 15: 8,269,779 R3150S unknown Het
4931417E11Rik A G 6: 73,469,120 Y149H probably damaging Het
Alox5 T G 6: 116,420,335 N296T probably damaging Het
Anks6 C T 4: 47,045,004 E301K probably damaging Het
Astn1 A G 1: 158,688,550 S1237G probably damaging Het
Atf6 G A 1: 170,799,714 P394S probably benign Het
Atp4a G A 7: 30,715,919 M321I probably benign Het
C4bp G A 1: 130,655,985 T82I probably damaging Het
Cask A T X: 13,552,447 probably benign Het
Cenpf A T 1: 189,646,876 S2906T probably damaging Het
Cfl1 T C 19: 5,492,800 F103L probably benign Het
Chrnb3 A T 8: 27,386,806 T83S probably damaging Het
Cmtr2 A G 8: 110,222,878 T607A probably benign Het
Cts7 A T 13: 61,356,626 probably benign Het
Dgkz A T 2: 91,939,962 Y514N possibly damaging Het
Dus3l C T 17: 56,768,363 L397F probably damaging Het
Fam159b T A 13: 104,863,610 Y35F probably benign Het
Gm13089 A T 4: 143,699,166 M69K probably benign Het
Gm6356 C T 14: 6,973,735 G27E probably damaging Het
Hkdc1 C T 10: 62,400,191 probably null Het
Kcmf1 A T 6: 72,858,883 V21E possibly damaging Het
Kcnh4 T A 11: 100,757,654 T75S possibly damaging Het
Lemd2 A G 17: 27,193,210 probably benign Het
Magee1 G T X: 105,123,339 R910L probably damaging Het
Mcm3ap T C 10: 76,471,258 probably benign Het
Mfsd4b3 T A 10: 39,947,643 E207V possibly damaging Het
Olfr1354 A G 10: 78,917,416 D192G probably damaging Het
Olfr697 A G 7: 106,741,710 S75P probably damaging Het
Pappa T C 4: 65,261,980 V1026A probably damaging Het
Paxip1 A G 5: 27,748,872 L942P probably damaging Het
Ppp1r12b A T 1: 134,955,649 L45Q probably benign Het
Ptprq T C 10: 107,666,586 T824A possibly damaging Het
Rfwd3 T C 8: 111,278,229 T574A probably benign Het
Rsbn1 T C 3: 103,928,569 S308P probably damaging Het
Smr2 A T 5: 88,108,630 I56F probably benign Het
Wdfy4 C T 14: 33,109,650 R873H probably damaging Het
Other mutations in Dmrtc1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Dmrtc1b APN X 102713627 missense probably benign 0.10
IGL02503:Dmrtc1b APN X 102714760 missense possibly damaging 0.92
IGL02612:Dmrtc1b APN X 102713267 missense probably benign
R6178:Dmrtc1b UTSW X 102713563 missense possibly damaging 0.95
Posted On2015-12-18