Incidental Mutation 'IGL00427:Fam131b'
ID6362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam131b
Ensembl Gene ENSMUSG00000029861
Gene Namefamily with sequence similarity 131, member B
Synonyms6330503C03Rik, 6530406I18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL00427
Quality Score
Status
Chromosome6
Chromosomal Location42315312-42324643 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 42318961 bp
ZygosityHeterozygous
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]
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: 4,194,357 D289G probably damaging Het
Adnp C T 2: 168,182,562 D938N probably benign Het
Arpin T A 7: 79,927,675 N208I probably benign Het
Cby3 A G 11: 50,357,811 probably benign Het
Cnih4 T A 1: 181,153,747 S28T probably damaging Het
D130052B06Rik G T 11: 33,623,558 V97L possibly damaging Het
Dchs1 T C 7: 105,758,424 E2067G probably damaging Het
Dennd6a C T 14: 26,608,613 T113I probably damaging Het
Dock4 T A 12: 40,832,306 F1590L possibly damaging Het
Dopey1 C A 9: 86,521,498 Q1582K possibly damaging Het
Dopey1 A T 9: 86,521,499 Q1582L probably damaging Het
Dopey1 G T 9: 86,521,500 Q1582H probably benign Het
Ebna1bp2 A T 4: 118,625,821 K291M probably damaging Het
Evpl G T 11: 116,234,505 Q73K probably benign Het
Gm10704 A C 3: 88,576,923 probably benign Het
Golga3 A G 5: 110,220,887 T1358A probably damaging Het
Gpr1 A T 1: 63,183,338 I246N probably damaging Het
Hgf G A 5: 16,578,486 D265N probably benign Het
Homer1 A G 13: 93,402,114 N333S probably benign Het
Igkv17-134 A T 6: 67,720,984 probably benign Het
Il16 T C 7: 83,652,458 D152G probably benign Het
Ireb2 T C 9: 54,899,482 probably benign Het
Itgb2 C T 10: 77,557,956 T410I probably benign Het
Kctd14 C A 7: 97,457,712 A111E possibly damaging Het
Lmod3 A C 6: 97,252,297 V92G probably damaging Het
Lmtk2 A G 5: 144,134,155 D83G probably damaging Het
Myh1 A G 11: 67,220,865 E1682G probably damaging Het
Myo9a T A 9: 59,843,059 probably benign Het
Nlrc4 T C 17: 74,447,092 N99D probably benign Het
P2rx3 A G 2: 85,035,272 Y10H probably damaging Het
Pcsk7 C A 9: 45,927,660 D623E probably benign Het
Plxna1 A G 6: 89,320,998 I1766T probably damaging Het
Ptk7 T C 17: 46,574,427 Y691C probably damaging Het
Rec8 A T 14: 55,618,651 T17S probably damaging Het
Ryr1 T C 7: 29,104,737 probably benign Het
Scg3 T G 9: 75,663,237 K345T probably damaging Het
Serpina3b A T 12: 104,132,941 K238N probably benign Het
Slc38a9 T A 13: 112,701,618 S306T probably damaging Het
Txndc16 A G 14: 45,145,090 probably benign Het
Vmn1r238 T A 18: 3,123,243 Y57F probably benign Het
Vmn2r104 A T 17: 20,038,239 S548T probably damaging Het
Xrcc1 T A 7: 24,547,884 probably null Het
Other mutations in Fam131b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Fam131b APN 6 42318272 missense probably damaging 1.00
IGL02948:Fam131b APN 6 42320992 splice site probably benign
IGL03226:Fam131b APN 6 42318954 missense possibly damaging 0.81
R0027:Fam131b UTSW 6 42318248 missense probably benign 0.01
R0027:Fam131b UTSW 6 42318248 missense probably benign 0.01
R1730:Fam131b UTSW 6 42318580 missense possibly damaging 0.75
R1783:Fam131b UTSW 6 42318580 missense possibly damaging 0.75
R1858:Fam131b UTSW 6 42318980 missense probably damaging 1.00
R1993:Fam131b UTSW 6 42320884 missense possibly damaging 0.94
R1994:Fam131b UTSW 6 42320884 missense possibly damaging 0.94
R4275:Fam131b UTSW 6 42321307 missense probably damaging 1.00
R4636:Fam131b UTSW 6 42320980 missense probably damaging 1.00
R5876:Fam131b UTSW 6 42321248 critical splice donor site probably null
R5877:Fam131b UTSW 6 42320979 missense probably benign 0.09
R5979:Fam131b UTSW 6 42321971 missense probably damaging 0.98
R7725:Fam131b UTSW 6 42318542 missense probably benign 0.01
Z1177:Fam131b UTSW 6 42318920 missense possibly damaging 0.62
Posted On2012-04-20