Incidental Mutation 'IGL00907:Fam234a'
ID29255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam234a
Ensembl Gene ENSMUSG00000024187
Gene Namefamily with sequence similarity 234, member A
SynonymsItfg3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL00907
Quality Score
Status
Chromosome17
Chromosomal Location26211822-26244223 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 26213526 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 550 (R550W)
Ref Sequence ENSEMBL: ENSMUSP00000113418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025020] [ENSMUST00000114988] [ENSMUST00000118487] [ENSMUST00000122058] [ENSMUST00000151293]
Predicted Effect probably benign
Transcript: ENSMUST00000025020
SMART Domains Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

DomainStartEndE-ValueType
DEP 34 109 7.78e-17 SMART
G_gamma 220 284 1.38e-19 SMART
GGL 223 284 1.1e-26 SMART
RGS 303 418 6.23e-47 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114988
AA Change: R550W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
AA Change: R550W

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 415 425 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118487
AA Change: R550W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187
AA Change: R550W

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 218 233 N/A INTRINSIC
low complexity region 415 425 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122058
SMART Domains Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

DomainStartEndE-ValueType
DEP 32 107 7.78e-17 SMART
G_gamma 218 282 1.38e-19 SMART
GGL 221 282 1.1e-26 SMART
RGS 301 416 6.23e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139639
Predicted Effect probably benign
Transcript: ENSMUST00000141240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147220
Predicted Effect probably benign
Transcript: ENSMUST00000151293
SMART Domains Protein: ENSMUSP00000117020
Gene: ENSMUSG00000024187

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155072
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Fam234a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02635:Fam234a APN 17 26214453 missense possibly damaging 0.63
R0269:Fam234a UTSW 17 26216617 missense probably benign
R0617:Fam234a UTSW 17 26216617 missense probably benign
R1687:Fam234a UTSW 17 26215308 missense probably damaging 1.00
R1971:Fam234a UTSW 17 26216655 splice site probably null
R2016:Fam234a UTSW 17 26218316 missense probably benign 0.07
R3826:Fam234a UTSW 17 26218189 missense probably benign
R3827:Fam234a UTSW 17 26218189 missense probably benign
R3829:Fam234a UTSW 17 26218189 missense probably benign
R4133:Fam234a UTSW 17 26213558 missense probably damaging 0.99
R4190:Fam234a UTSW 17 26213860 missense probably damaging 0.98
R4193:Fam234a UTSW 17 26213860 missense probably damaging 0.98
R4858:Fam234a UTSW 17 26216617 missense probably benign
R4885:Fam234a UTSW 17 26213585 missense probably benign 0.00
R5117:Fam234a UTSW 17 26213538 missense probably benign 0.18
R5719:Fam234a UTSW 17 26214653 missense possibly damaging 0.52
R5735:Fam234a UTSW 17 26213705 missense probably damaging 1.00
R6271:Fam234a UTSW 17 26218237 missense probably benign 0.19
R6341:Fam234a UTSW 17 26213693 missense probably damaging 1.00
R6365:Fam234a UTSW 17 26220455 nonsense probably null
R6621:Fam234a UTSW 17 26213881 missense probably damaging 1.00
R7393:Fam234a UTSW 17 26216624 missense probably benign 0.01
R7801:Fam234a UTSW 17 26218198 missense probably benign 0.00
R7956:Fam234a UTSW 17 26216577 missense probably damaging 1.00
R8324:Fam234a UTSW 17 26218698 missense probably benign 0.11
R8393:Fam234a UTSW 17 26218175 missense probably damaging 1.00
RF020:Fam234a UTSW 17 26218751 missense probably benign 0.42
Posted On2013-04-17