Incidental Mutation 'IGL03226:Fam131b'
ID 414854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam131b
Ensembl Gene ENSMUSG00000029861
Gene Name family with sequence similarity 131, member B
Synonyms 6330503C03Rik, 6530406I18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # IGL03226
Quality Score
Status
Chromosome 6
Chromosomal Location 42292246-42301577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42295888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 169 (M169I)
Ref Sequence ENSEMBL: ENSMUSP00000116779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031891] [ENSMUST00000031894] [ENSMUST00000095974] [ENSMUST00000143278] [ENSMUST00000164091] [ENSMUST00000168660]
AlphaFold Q3TY60
Predicted Effect probably benign
Transcript: ENSMUST00000031891
AA Change: M157I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861
AA Change: M157I

DomainStartEndE-ValueType
Pfam:FAM131 49 341 7.4e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031894
SMART Domains Protein: ENSMUSP00000031894
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 121 130 N/A INTRINSIC
Pfam:Voltage_CLC 170 572 3.2e-87 PFAM
Blast:CBS 612 662 1e-24 BLAST
low complexity region 723 747 N/A INTRINSIC
Blast:CBS 830 877 4e-19 BLAST
low complexity region 928 950 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095974
AA Change: M141I

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861
AA Change: M141I

DomainStartEndE-ValueType
Pfam:FAM131 33 325 4.5e-128 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114684
SMART Domains Protein: ENSMUSP00000110332
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
Pfam:Voltage_CLC 3 254 2.6e-42 PFAM
CBS 294 344 1.3e1 SMART
low complexity region 405 429 N/A INTRINSIC
Blast:CBS 480 524 2e-13 BLAST
low complexity region 575 597 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143278
AA Change: M169I

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861
AA Change: M169I

DomainStartEndE-ValueType
Pfam:FAM131 61 353 1.9e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163936
SMART Domains Protein: ENSMUSP00000130148
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 92 101 N/A INTRINSIC
Pfam:Voltage_CLC 141 261 1.2e-27 PFAM
Pfam:Voltage_CLC 258 501 3.9e-44 PFAM
PDB:2D4Z|B 520 807 2e-47 PDB
Blast:CBS 541 591 2e-24 BLAST
Blast:CBS 759 806 3e-19 BLAST
low complexity region 857 879 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164091
SMART Domains Protein: ENSMUSP00000131354
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 121 130 N/A INTRINSIC
Pfam:Voltage_CLC 170 256 2.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168660
SMART Domains Protein: ENSMUSP00000126045
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 88 97 N/A INTRINSIC
Pfam:Voltage_CLC 136 257 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169024
SMART Domains Protein: ENSMUSP00000130968
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 92 101 N/A INTRINSIC
Pfam:Voltage_CLC 141 261 2.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170028
SMART Domains Protein: ENSMUSP00000132154
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 92 101 N/A INTRINSIC
Pfam:Voltage_CLC 141 235 8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165780
SMART Domains Protein: ENSMUSP00000130550
Gene: ENSMUSG00000029862

DomainStartEndE-ValueType
low complexity region 92 101 N/A INTRINSIC
Pfam:Voltage_CLC 141 227 9.7e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,395,058 (GRCm39) V32A probably damaging Het
Als2 T C 1: 59,225,679 (GRCm39) T944A probably benign Het
Bcat2 T A 7: 45,237,778 (GRCm39) V348E probably damaging Het
Bnip2 A G 9: 69,903,456 (GRCm39) D36G probably benign Het
C2cd5 T A 6: 143,018,292 (GRCm39) D310V possibly damaging Het
Cltc G A 11: 86,611,113 (GRCm39) T582M probably damaging Het
Cplx3 A T 9: 57,517,290 (GRCm39) Y365N probably benign Het
Dync2h1 T C 9: 7,125,918 (GRCm39) H1896R probably benign Het
Efcab5 T C 11: 77,028,501 (GRCm39) R413G possibly damaging Het
Fam241b A G 10: 61,945,671 (GRCm39) S52P probably benign Het
Gpd2 G A 2: 57,194,498 (GRCm39) probably null Het
Gucy1a1 T A 3: 82,026,331 (GRCm39) Q41L probably benign Het
Ifna16 T C 4: 88,594,741 (GRCm39) D118G probably benign Het
Kcnn1 T C 8: 71,299,135 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Lyst A T 13: 13,884,144 (GRCm39) H2984L probably benign Het
Myh7b C T 2: 155,462,403 (GRCm39) Q369* probably null Het
Nalcn A C 14: 123,518,527 (GRCm39) W1671G probably benign Het
Ndrg2 G A 14: 52,144,026 (GRCm39) probably benign Het
Nfia C A 4: 97,951,286 (GRCm39) P371Q probably damaging Het
Or10d5 A C 9: 39,861,719 (GRCm39) probably null Het
Pcdhb22 A G 18: 37,652,009 (GRCm39) D159G probably damaging Het
Plekhm3 A T 1: 64,960,959 (GRCm39) D432E possibly damaging Het
Pramel17 T A 4: 101,692,594 (GRCm39) T469S probably benign Het
Rab2a A G 4: 8,606,448 (GRCm39) N195S probably benign Het
Sbf1 A G 15: 89,173,308 (GRCm39) Y1764H possibly damaging Het
Scap A G 9: 110,213,335 (GRCm39) T1127A possibly damaging Het
Shld2 T C 14: 33,990,328 (GRCm39) T193A probably benign Het
Slc45a2 A G 15: 11,022,278 (GRCm39) D340G probably damaging Het
Tbc1d23 A T 16: 57,034,625 (GRCm39) L58Q probably damaging Het
Tmcc1 T C 6: 116,110,937 (GRCm39) T119A probably damaging Het
Tnfsf10 C A 3: 27,389,597 (GRCm39) Y219* probably null Het
Traip G A 9: 107,848,192 (GRCm39) R437Q probably damaging Het
Tyw3 T C 3: 154,293,187 (GRCm39) T163A possibly damaging Het
Other mutations in Fam131b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Fam131b APN 6 42,295,895 (GRCm39) missense probably damaging 1.00
IGL01328:Fam131b APN 6 42,295,206 (GRCm39) missense probably damaging 1.00
IGL02948:Fam131b APN 6 42,297,926 (GRCm39) splice site probably benign
R0027:Fam131b UTSW 6 42,295,182 (GRCm39) missense probably benign 0.01
R0027:Fam131b UTSW 6 42,295,182 (GRCm39) missense probably benign 0.01
R1730:Fam131b UTSW 6 42,295,514 (GRCm39) missense possibly damaging 0.75
R1783:Fam131b UTSW 6 42,295,514 (GRCm39) missense possibly damaging 0.75
R1858:Fam131b UTSW 6 42,295,914 (GRCm39) missense probably damaging 1.00
R1993:Fam131b UTSW 6 42,297,818 (GRCm39) missense possibly damaging 0.94
R1994:Fam131b UTSW 6 42,297,818 (GRCm39) missense possibly damaging 0.94
R4275:Fam131b UTSW 6 42,298,241 (GRCm39) missense probably damaging 1.00
R4636:Fam131b UTSW 6 42,297,914 (GRCm39) missense probably damaging 1.00
R5876:Fam131b UTSW 6 42,298,182 (GRCm39) critical splice donor site probably null
R5877:Fam131b UTSW 6 42,297,913 (GRCm39) missense probably benign 0.09
R5979:Fam131b UTSW 6 42,298,905 (GRCm39) missense probably damaging 0.98
R7725:Fam131b UTSW 6 42,295,476 (GRCm39) missense probably benign 0.01
R9023:Fam131b UTSW 6 42,298,946 (GRCm39) missense possibly damaging 0.73
Z1177:Fam131b UTSW 6 42,295,854 (GRCm39) missense possibly damaging 0.62
Posted On 2016-08-02