Incidental Mutation 'IGL01504:Fam196a'
ID88986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam196a
Ensembl Gene ENSMUSG00000073805
Gene Namefamily with sequence similarity 196, member A
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01504
Quality Score
Status
Chromosome7
Chromosomal Location134881926-134938430 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134917940 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 287 (Q287L)
Ref Sequence ENSEMBL: ENSMUSP00000129222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084488] [ENSMUST00000171394]
Predicted Effect probably benign
Transcript: ENSMUST00000084488
SMART Domains Protein: ENSMUSP00000081531
Gene: ENSMUSG00000058325

DomainStartEndE-ValueType
SH3 12 69 7.57e-17 SMART
Pfam:DOCK_N 72 416 1.7e-113 PFAM
Pfam:DOCK-C2 421 618 1.2e-61 PFAM
low complexity region 628 639 N/A INTRINSIC
Pfam:DHR-2 1111 1610 3.3e-102 PFAM
low complexity region 1639 1664 N/A INTRINSIC
low complexity region 1683 1701 N/A INTRINSIC
low complexity region 1756 1773 N/A INTRINSIC
low complexity region 1823 1857 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171394
AA Change: Q287L

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129222
Gene: ENSMUSG00000073805
AA Change: Q287L

DomainStartEndE-ValueType
Pfam:FAM196 1 470 4.7e-205 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210617
Coding Region Coverage
Validation Efficiency
MGI Phenotype Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,602 I326N probably damaging Het
Acot6 G A 12: 84,109,402 V375M probably benign Het
Als2cl G A 9: 110,889,283 R364Q probably benign Het
Cpa1 A T 6: 30,640,721 T121S probably benign Het
Ctnnbl1 A G 2: 157,818,116 probably benign Het
Frrs1 C A 3: 116,900,658 Q76K probably damaging Het
Gja10 T A 4: 32,602,375 D3V probably damaging Het
Krt76 T C 15: 101,888,173 E400G probably damaging Het
Mdm1 A G 10: 118,146,600 T47A probably damaging Het
Ncf2 A G 1: 152,833,329 K336R probably benign Het
Ndrg4 C A 8: 95,706,266 L34I probably damaging Het
Phf20l1 T A 15: 66,597,691 H148Q possibly damaging Het
Rhobtb1 A G 10: 69,249,698 H89R probably damaging Het
Sult1e1 T C 5: 87,576,301 N266D probably damaging Het
Sult2a2 T C 7: 13,738,264 S129P probably damaging Het
Trank1 A G 9: 111,373,544 E1659G probably damaging Het
Trpa1 T G 1: 14,882,219 I863L possibly damaging Het
Vmn1r177 C T 7: 23,866,410 V14M probably damaging Het
Vmn2r14 A T 5: 109,221,419 M96K probably benign Het
Zp1 C T 19: 10,919,011 V117M probably damaging Het
Other mutations in Fam196a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Fam196a APN 7 134899144 critical splice donor site probably null
R0557:Fam196a UTSW 7 134918705 missense probably damaging 1.00
R1421:Fam196a UTSW 7 134899231 splice site probably benign
R1691:Fam196a UTSW 7 134918286 missense probably damaging 1.00
R1726:Fam196a UTSW 7 134899138 splice site probably benign
R2045:Fam196a UTSW 7 134918430 missense probably damaging 1.00
R2259:Fam196a UTSW 7 134917667 missense probably damaging 1.00
R3078:Fam196a UTSW 7 134918021 missense probably benign 0.15
R3851:Fam196a UTSW 7 134884526 missense probably benign 0.23
R4619:Fam196a UTSW 7 134918541 missense probably damaging 1.00
R4663:Fam196a UTSW 7 134899148 nonsense probably null
R5024:Fam196a UTSW 7 134918478 missense probably damaging 1.00
R5067:Fam196a UTSW 7 134918555 missense probably benign 0.01
R5195:Fam196a UTSW 7 134884416 missense probably damaging 1.00
R5708:Fam196a UTSW 7 134918796 missense probably damaging 1.00
R6195:Fam196a UTSW 7 134918648 missense probably damaging 1.00
R7151:Fam196a UTSW 7 134918645 missense probably damaging 1.00
R7414:Fam196a UTSW 7 134918009 missense probably benign 0.06
Z1176:Fam196a UTSW 7 134918706 missense probably damaging 1.00
Posted On2013-12-03