Incidental Mutation 'R1602:Gm12169'
ID176216
Institutional Source Beutler Lab
Gene Symbol Gm12169
Ensembl Gene ENSMUSG00000078924
Gene Namepredicted gene 12169
Synonyms
MMRRC Submission 039639-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R1602 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location46524212-46538156 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46535588 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 174 (I174T)
Ref Sequence ENSEMBL: ENSMUSP00000104851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109228]
Predicted Effect probably benign
Transcript: ENSMUST00000109228
AA Change: I174T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000104851
Gene: ENSMUSG00000078924
AA Change: I174T

DomainStartEndE-ValueType
IG 22 128 3.76e-8 SMART
transmembrane domain 159 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119281
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 91% (49/54)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 65,983,688 Y1583* probably null Het
Ankrd34c T C 9: 89,729,005 T428A possibly damaging Het
Arfgef1 G C 1: 10,204,890 I312M probably benign Het
Atr T C 9: 95,951,557 L2620P probably damaging Het
Ccdc110 A G 8: 45,938,918 Y54C probably benign Het
Cecr2 T C 6: 120,755,587 V480A possibly damaging Het
Chfr A G 5: 110,151,665 D308G probably benign Het
Cit T A 5: 115,997,730 I1919N probably damaging Het
Ctsc T A 7: 88,278,304 D34E possibly damaging Het
Diaph3 T A 14: 87,091,158 probably benign Het
Dnah6 T A 6: 73,067,469 I3220F probably damaging Het
Elmod3 A G 6: 72,569,259 probably null Het
Fam35a A G 14: 34,267,650 I433T probably damaging Het
Fgd5 T C 6: 92,066,184 V1215A possibly damaging Het
Filip1 T C 9: 79,820,591 M249V probably damaging Het
Fmn1 C T 2: 113,525,623 P803L unknown Het
Gcfc2 A G 6: 81,944,420 K469R probably damaging Het
Gm6803 C A 12: 88,018,364 E136D probably benign Het
Gm8994 G A 6: 136,328,780 A80T probably damaging Het
Itgad A G 7: 128,190,939 T637A probably damaging Het
Kank2 T C 9: 21,769,837 S799G probably damaging Het
Kcnc4 A T 3: 107,448,204 D309E possibly damaging Het
Lamc2 G A 1: 153,127,028 T1069M probably benign Het
Lepr T A 4: 101,745,645 M210K possibly damaging Het
Lig3 T C 11: 82,792,194 probably null Het
Oat G T 7: 132,570,007 T33K probably benign Het
Olfr1356 T A 10: 78,846,968 M316L probably benign Het
Olfr1368 T C 13: 21,142,650 M136V probably damaging Het
Olfr32 A G 2: 90,139,055 F28S probably damaging Het
Pcnx3 G T 19: 5,672,515 A1383E probably damaging Het
Pctp T C 11: 89,988,735 Y100C probably damaging Het
Pex6 G T 17: 46,712,137 R213L probably benign Het
Phlpp2 T C 8: 109,934,023 L770S possibly damaging Het
Pkn2 A T 3: 142,853,538 D75E possibly damaging Het
Pla2g12b T C 10: 59,421,553 probably null Het
Plch2 C T 4: 154,984,450 V1135I probably damaging Het
Pskh1 T A 8: 105,912,821 S44R probably benign Het
Ptpa G T 2: 30,437,590 A119S probably benign Het
Slfn3 A G 11: 83,212,715 I137M probably damaging Het
St6galnac1 A T 11: 116,769,287 S67T probably benign Het
Treml1 A G 17: 48,364,889 E137G probably damaging Het
Ubr2 A C 17: 46,941,061 C1518G probably benign Het
Vmn2r55 A T 7: 12,652,644 C470S probably damaging Het
Other mutations in Gm12169
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Gm12169 UTSW 11 46535539 missense probably benign 0.13
BB019:Gm12169 UTSW 11 46535539 missense probably benign 0.13
R0314:Gm12169 UTSW 11 46528537 missense probably damaging 1.00
R0959:Gm12169 UTSW 11 46536420 nonsense probably null
R1719:Gm12169 UTSW 11 46526294 missense probably damaging 1.00
R1917:Gm12169 UTSW 11 46528531 missense possibly damaging 0.82
R1918:Gm12169 UTSW 11 46528531 missense possibly damaging 0.82
R1919:Gm12169 UTSW 11 46528531 missense possibly damaging 0.82
R2202:Gm12169 UTSW 11 46528567 missense probably benign 0.06
R2205:Gm12169 UTSW 11 46528567 missense probably benign 0.06
R3964:Gm12169 UTSW 11 46535513 missense possibly damaging 0.56
R3965:Gm12169 UTSW 11 46535513 missense possibly damaging 0.56
R3966:Gm12169 UTSW 11 46535513 missense possibly damaging 0.56
R5022:Gm12169 UTSW 11 46528532 missense probably damaging 0.97
R5023:Gm12169 UTSW 11 46528532 missense probably damaging 0.97
R7294:Gm12169 UTSW 11 46535612 missense probably benign 0.41
R7441:Gm12169 UTSW 11 46528555 nonsense probably null
R7932:Gm12169 UTSW 11 46535539 missense probably benign 0.13
R8027:Gm12169 UTSW 11 46537917 missense probably benign
Predicted Primers PCR Primer
(F):5'- TACAATACCCAACCGGCAATGGAGG -3'
(R):5'- TCCAAGCAATCTGAGACACAAGGTC -3'

Sequencing Primer
(F):5'- GGAAAAGTCTGGCTTGAGGTATG -3'
(R):5'- TGTCACTAAGGTAGCACACTG -3'
Posted On2014-04-24