Incidental Mutation 'IGL00795:Fam126b'
ID12612
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? Probably essential (E-score: 0.772) question?
Stock #IGL00795
Quality Score
Status
Chromosome1
Chromosomal Location58522806-58586323 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58552179 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 102 (E102K)
Ref Sequence ENSEMBL: ENSMUSP00000123728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038372] [ENSMUST00000097724] [ENSMUST00000161000] [ENSMUST00000161600] [ENSMUST00000187717]
Predicted Effect probably damaging
Transcript: ENSMUST00000038372
AA Change: E102K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: E102K

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 1.7e-137 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097724
AA Change: E102K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: E102K

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 3.3e-126 PFAM
low complexity region 374 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161000
SMART Domains Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174

DomainStartEndE-ValueType
Pfam:Hyccin 20 99 3e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161600
AA Change: E102K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: E102K

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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Ap1m1 A G 8: 72,253,509 N308S probably damaging Het
Bub1 A G 2: 127,821,815 V222A probably benign Het
Ccdc91 G T 6: 147,507,807 D4Y probably damaging Het
Defb21 A G 2: 152,574,745 D47G probably benign Het
Dnah17 C A 11: 118,093,634 C1607F probably benign Het
Insc T C 7: 114,842,154 L401P probably damaging Het
Kif18a A T 2: 109,293,020 N213I probably damaging Het
Mapre1 A G 2: 153,746,314 D19G probably damaging Het
Mettl8 A T 2: 70,982,090 I32N probably damaging Het
Mroh9 T A 1: 163,060,622 T295S probably damaging Het
Pum3 T A 19: 27,422,358 Y225F probably damaging Het
Tas2r131 G A 6: 132,957,591 T85I possibly damaging Het
Tbcd T G 11: 121,616,932 I1193S probably benign Het
Tgoln1 C T 6: 72,616,252 A82T probably benign Het
Other mutations in Fam126b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Fam126b APN 1 58540253 splice site probably benign
IGL00468:Fam126b APN 1 58530232 missense probably benign 0.25
IGL00701:Fam126b APN 1 58535482 missense possibly damaging 0.59
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
Posted On2012-12-06