Incidental Mutation 'IGL00427:Fam131b'
ID 6362
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 # IGL00427
Quality Score
Status
Chromosome 6
Chromosomal Location 42292246-42301577 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42295895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 139 (T139K)
Ref Sequence ENSEMBL: ENSMUSP00000093670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031891] [ENSMUST00000031894] [ENSMUST00000095974] [ENSMUST00000143278] [ENSMUST00000164091]
AlphaFold Q3TY60
Predicted Effect probably damaging
Transcript: ENSMUST00000031891
AA Change: T155K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031891
Gene: ENSMUSG00000029861
AA Change: T155K

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 damaging
Transcript: ENSMUST00000095974
AA Change: T139K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093670
Gene: ENSMUSG00000029861
AA Change: T139K

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 probably benign
Transcript: ENSMUST00000143278
AA Change: T167K

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116779
Gene: ENSMUSG00000029861
AA Change: T167K

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: 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
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,244,357 (GRCm39) D289G probably damaging Het
Adnp C T 2: 168,024,482 (GRCm39) D938N probably benign Het
Arpin T A 7: 79,577,423 (GRCm39) N208I probably benign Het
Cby3 A G 11: 50,248,638 (GRCm39) probably benign Het
Cmklr2 A T 1: 63,222,497 (GRCm39) I246N probably damaging Het
Cnih4 T A 1: 180,981,312 (GRCm39) S28T probably damaging Het
D130052B06Rik G T 11: 33,573,558 (GRCm39) V97L possibly damaging Het
Dchs1 T C 7: 105,407,631 (GRCm39) E2067G probably damaging Het
Dennd6a C T 14: 26,329,768 (GRCm39) T113I probably damaging Het
Dock4 T A 12: 40,882,305 (GRCm39) F1590L possibly damaging Het
Dop1a G T 9: 86,403,553 (GRCm39) Q1582H probably benign Het
Dop1a A T 9: 86,403,552 (GRCm39) Q1582L probably damaging Het
Dop1a C A 9: 86,403,551 (GRCm39) Q1582K possibly damaging Het
Ebna1bp2 A T 4: 118,483,018 (GRCm39) K291M probably damaging Het
Evpl G T 11: 116,125,331 (GRCm39) Q73K probably benign Het
Golga3 A G 5: 110,368,753 (GRCm39) T1358A probably damaging Het
Hgf G A 5: 16,783,484 (GRCm39) D265N probably benign Het
Homer1 A G 13: 93,538,622 (GRCm39) N333S probably benign Het
Igkv17-134 A T 6: 67,697,968 (GRCm39) probably benign Het
Il16 T C 7: 83,301,666 (GRCm39) D152G probably benign Het
Ireb2 T C 9: 54,806,766 (GRCm39) probably benign Het
Itgb2 C T 10: 77,393,790 (GRCm39) T410I probably benign Het
Kctd14 C A 7: 97,106,919 (GRCm39) A111E possibly damaging Het
Lmod3 A C 6: 97,229,258 (GRCm39) V92G probably damaging Het
Lmtk2 A G 5: 144,070,973 (GRCm39) D83G probably damaging Het
Myh1 A G 11: 67,111,691 (GRCm39) E1682G probably damaging Het
Myo9a T A 9: 59,750,342 (GRCm39) probably benign Het
Nlrc4 T C 17: 74,754,087 (GRCm39) N99D probably benign Het
P2rx3 A G 2: 84,865,616 (GRCm39) Y10H probably damaging Het
Pcsk7 C A 9: 45,838,958 (GRCm39) D623E probably benign Het
Plxna1 A G 6: 89,297,980 (GRCm39) I1766T probably damaging Het
Ptk7 T C 17: 46,885,353 (GRCm39) Y691C probably damaging Het
Rec8 A T 14: 55,856,108 (GRCm39) T17S probably damaging Het
Rtraf-ps A C 3: 88,484,230 (GRCm39) probably benign Het
Ryr1 T C 7: 28,804,162 (GRCm39) probably benign Het
Scg3 T G 9: 75,570,519 (GRCm39) K345T probably damaging Het
Serpina3b A T 12: 104,099,200 (GRCm39) K238N probably benign Het
Slc38a9 T A 13: 112,838,152 (GRCm39) S306T probably damaging Het
Txndc16 A G 14: 45,382,547 (GRCm39) probably benign Het
Vmn1r238 T A 18: 3,123,243 (GRCm39) Y57F probably benign Het
Vmn2r104 A T 17: 20,258,501 (GRCm39) S548T probably damaging Het
Xrcc1 T A 7: 24,247,309 (GRCm39) probably null Het
Other mutations in Fam131b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03226:Fam131b APN 6 42,295,888 (GRCm39) missense possibly damaging 0.81
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 2012-04-20