Incidental Mutation 'P0023:Gm11992'
ID15539
Institutional Source Beutler Lab
Gene Symbol Gm11992
Ensembl Gene ENSMUSG00000040978
Gene Namepredicted gene 11992
Synonyms
MMRRC Submission 038276-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #P0023 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location9048594-9069356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 9052846 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 70 (Y70H)
Ref Sequence ENSEMBL: ENSMUSP00000039806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043285] [ENSMUST00000102909]
Predicted Effect probably damaging
Transcript: ENSMUST00000043285
AA Change: Y70H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: Y70H

DomainStartEndE-ValueType
low complexity region 244 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102909
SMART Domains Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985

DomainStartEndE-ValueType
Pfam:Sad1_UNC 122 256 3.2e-48 PFAM
Meta Mutation Damage Score 0.5239 question?
Coding Region Coverage
  • 1x: 85.1%
  • 3x: 76.2%
  • 10x: 34.8%
  • 20x: 2.4%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,395,066 probably null Het
Chp2 A G 7: 122,222,138 N185S probably benign Het
Cited2 A G 10: 17,724,715 D257G probably damaging Het
Clptm1l G T 13: 73,604,952 R62L possibly damaging Het
Cmya5 C T 13: 93,089,346 S3078N probably benign Het
Dcaf1 T A 9: 106,860,451 F1169I probably benign Het
Efhc1 G A 1: 20,955,527 V86I probably benign Het
Fanci A C 7: 79,402,300 D107A probably benign Het
Fyb A T 15: 6,651,854 K74M probably damaging Het
Gapvd1 A G 2: 34,706,688 probably benign Het
Lrba A G 3: 86,417,935 E1900G probably damaging Het
Lrpprc G A 17: 84,726,338 T1037M probably benign Het
Olfr914 A G 9: 38,606,645 Y60C probably damaging Het
Piezo2 A G 18: 63,386,200 probably benign Het
Pld1 T C 3: 28,048,125 S342P probably damaging Het
Prkag3 A G 1: 74,740,739 L479P probably damaging Het
Rsf1 T C 7: 97,662,271 I736T probably damaging Het
Tet2 C A 3: 133,486,893 M593I probably benign Het
Ttpal T C 2: 163,611,809 Y167H probably damaging Het
Other mutations in Gm11992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Gm11992 APN 11 9068383 makesense probably null
IGL01837:Gm11992 APN 11 9061266 missense probably damaging 1.00
IGL02405:Gm11992 APN 11 9059939 missense probably benign 0.00
IGL02875:Gm11992 APN 11 9052887 unclassified probably benign
R5100:Gm11992 UTSW 11 9061290 missense probably damaging 0.99
R5471:Gm11992 UTSW 11 9068333 critical splice acceptor site probably null
R5935:Gm11992 UTSW 11 9052711 missense probably damaging 1.00
R6715:Gm11992 UTSW 11 9061214 missense probably damaging 1.00
R7559:Gm11992 UTSW 11 9052747 missense possibly damaging 0.94
R7910:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
R7991:Gm11992 UTSW 11 9049165 missense probably damaging 1.00
Posted On2012-12-21