Incidental Mutation 'IGL00425:Fam126b'
ID7465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam126b
Ensembl Gene ENSMUSG00000038174
Gene Namefamily with sequence similarity 126, member B
SynonymsD1Ertd53e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.710) question?
Stock #IGL00425
Quality Score
Status
Chromosome1
Chromosomal Location58522806-58586323 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 58540253 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161600] [ENSMUST00000187717]
Predicted Effect probably benign
Transcript: ENSMUST00000038372
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097724
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 3.3e-126 PFAM
low complexity region 374 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161600
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187717
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 C T 14: 66,074,049 probably null Het
Adgrb2 A T 4: 130,019,072 H1373L probably benign Het
Adgrf4 A G 17: 42,666,656 S599P probably damaging Het
Atp9b G A 18: 80,917,888 probably benign Het
Baiap2 A G 11: 119,982,010 T125A probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna2d2 T C 9: 107,527,351 S1114P probably damaging Het
Ccdc159 T C 9: 21,929,469 S111P possibly damaging Het
Cd177 T A 7: 24,759,751 T78S possibly damaging Het
Cdk5rap2 A G 4: 70,403,472 probably null Het
Cdkl3 C A 11: 52,029,856 T462K probably benign Het
Chid1 A C 7: 141,522,696 L208R probably damaging Het
Clca3b A G 3: 144,836,581 S487P probably benign Het
Col6a3 A T 1: 90,782,026 L1816Q unknown Het
Dido1 A G 2: 180,683,989 S469P probably benign Het
Dsg2 A G 18: 20,601,769 N935D probably benign Het
Fbxw2 A G 2: 34,812,949 I184T probably benign Het
Gbp9 T C 5: 105,105,754 I32V possibly damaging Het
Itgb8 G A 12: 119,189,826 T318I probably damaging Het
Kcnb2 A G 1: 15,711,012 S703G probably benign Het
Kif26b A T 1: 178,916,301 S1321C probably damaging Het
Klb A G 5: 65,372,374 N415S possibly damaging Het
Megf10 C A 18: 57,240,628 A166D probably damaging Het
Mrm3 T G 11: 76,244,493 S177A probably damaging Het
Nav3 A G 10: 109,703,507 F2011S probably benign Het
Nipal1 C T 5: 72,658,724 S30L probably benign Het
Ogdhl T C 14: 32,346,490 Y895H probably damaging Het
Pif1 A G 9: 65,593,277 N495D probably damaging Het
Prrc2c A T 1: 162,720,613 probably null Het
Pygl T C 12: 70,191,092 D724G probably damaging Het
Runx1t1 A G 4: 13,835,663 D40G probably benign Het
Serhl A T 15: 83,105,637 D192V possibly damaging Het
Slc12a5 C T 2: 164,983,281 A461V probably damaging Het
Tomm34 A T 2: 164,058,662 probably benign Het
Zfp54 A G 17: 21,430,297 N45D probably damaging Het
Other mutations in Fam126b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Fam126b APN 1 58530232 missense probably benign 0.25
IGL00701:Fam126b APN 1 58535482 missense possibly damaging 0.59
IGL00795:Fam126b APN 1 58552179 missense probably damaging 1.00
IGL02023:Fam126b APN 1 58530115 missense possibly damaging 0.53
IGL02501:Fam126b APN 1 58540191 missense probably damaging 1.00
IGL02657:Fam126b APN 1 58535402 missense probably damaging 1.00
IGL02970:Fam126b APN 1 58539617 missense probably damaging 1.00
IGL03221:Fam126b APN 1 58540186 missense probably benign 0.00
IGL03240:Fam126b APN 1 58529917 missense probably damaging 1.00
PIT4812001:Fam126b UTSW 1 58548703 missense possibly damaging 0.78
R0455:Fam126b UTSW 1 58534479 splice site probably benign
R1479:Fam126b UTSW 1 58552268 nonsense probably null
R1529:Fam126b UTSW 1 58539607 missense probably benign 0.00
R4275:Fam126b UTSW 1 58529933 missense probably benign
R5164:Fam126b UTSW 1 58535438 missense probably benign 0.13
R6332:Fam126b UTSW 1 58529875 missense probably damaging 0.99
R6352:Fam126b UTSW 1 58557312 missense probably damaging 1.00
R6549:Fam126b UTSW 1 58539600 missense probably benign 0.03
R7034:Fam126b UTSW 1 58535537 missense probably benign 0.17
R7036:Fam126b UTSW 1 58535537 missense probably benign 0.17
R7100:Fam126b UTSW 1 58534494 missense possibly damaging 0.94
R7237:Fam126b UTSW 1 58529948 nonsense probably null
R7378:Fam126b UTSW 1 58530034 missense probably benign 0.00
R7403:Fam126b UTSW 1 58548702 missense possibly damaging 0.59
R8015:Fam126b UTSW 1 58535482 missense possibly damaging 0.59
R8249:Fam126b UTSW 1 58534637 missense probably benign 0.10
Posted On2012-04-20