Incidental Mutation 'IGL01345:Gm8267'
ID75010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm8267
Ensembl Gene ENSMUSG00000091923
Gene Namepredicted gene 8267
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01345
Quality Score
Status
Chromosome14
Chromosomal Location44716838-44750340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44724955 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 3 (S3P)
Ref Sequence ENSEMBL: ENSMUSP00000153838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165003] [ENSMUST00000169062] [ENSMUST00000226900]
Predicted Effect probably damaging
Transcript: ENSMUST00000165003
AA Change: S3P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: S3P

DomainStartEndE-ValueType
Pfam:Takusan 48 128 1.4e-28 PFAM
coiled coil region 144 175 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169062
AA Change: S3P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: S3P

DomainStartEndE-ValueType
Pfam:Takusan 46 129 4.9e-37 PFAM
low complexity region 187 199 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000226900
AA Change: S3P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228619
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Armc4 T C 18: 7,266,947 K385E probably benign Het
Atr G A 9: 95,940,949 C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 L8* probably null Het
Erc1 T A 6: 119,761,263 K240* probably null Het
Gcat T C 15: 79,034,065 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gpr26 T C 7: 131,967,432 F169L possibly damaging Het
Itgal T A 7: 127,300,956 F129I possibly damaging Het
Kcnk1 T A 8: 126,025,407 C251S possibly damaging Het
Nfkb1 T C 3: 135,594,981 D608G probably damaging Het
Nlrp2 T C 7: 5,317,492 E882G probably benign Het
Pik3r5 G A 11: 68,496,194 D854N possibly damaging Het
Rnf220 G A 4: 117,273,270 R253* probably null Het
Slc22a15 A C 3: 101,880,176 S259R probably benign Het
Tln1 G A 4: 43,536,281 L2004F probably damaging Het
Tlnrd1 A G 7: 83,882,846 S126P probably damaging Het
Ulk4 T C 9: 121,208,162 T587A possibly damaging Het
Vasn A G 16: 4,648,368 I60V probably benign Het
Vps33a G T 5: 123,572,943 N13K probably benign Het
Zmiz2 A G 11: 6,405,015 D862G possibly damaging Het
Zswim3 T A 2: 164,820,137 L179H probably damaging Het
Other mutations in Gm8267
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02031:Gm8267 APN 14 44717917 missense possibly damaging 0.85
R3619:Gm8267 UTSW 14 44724056 missense possibly damaging 0.95
R4715:Gm8267 UTSW 14 44717835 missense probably benign 0.33
R6599:Gm8267 UTSW 14 44717910 missense possibly damaging 0.86
R7001:Gm8267 UTSW 14 44722928 missense possibly damaging 0.94
R7057:Gm8267 UTSW 14 44722024 missense probably damaging 0.99
R7439:Gm8267 UTSW 14 44722940 missense probably damaging 1.00
R7441:Gm8267 UTSW 14 44722940 missense probably damaging 1.00
Z1088:Gm8267 UTSW 14 44724865 missense probably benign 0.28
Posted On2013-10-07