Incidental Mutation 'R5694:Fam126a'
ID443814
Institutional Source Beutler Lab
Gene Symbol Fam126a
Ensembl Gene ENSMUSG00000028995
Gene Namefamily with sequence similarity 126, member A
Synonyms
MMRRC Submission 043325-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.618) question?
Stock #R5694 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location23915276-24030690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 23991796 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 31 (L31F)
Ref Sequence ENSEMBL: ENSMUSP00000110761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]
Predicted Effect probably damaging
Transcript: ENSMUST00000030849
AA Change: L31F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: L31F

DomainStartEndE-ValueType
Pfam:Hyccin 22 330 2.7e-133 PFAM
low complexity region 353 373 N/A INTRINSIC
low complexity region 415 434 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101513
AA Change: L31F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: L31F

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115109
AA Change: L31F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: L31F

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 2.2e-141 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147179
Predicted Effect probably benign
Transcript: ENSMUST00000197617
SMART Domains Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 1 248 1.7e-100 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,600,947 I1353N probably damaging Het
Actr1a C A 19: 46,395,718 probably benign Het
Adamts14 A T 10: 61,229,652 M356K probably benign Het
Adamtsl2 A G 2: 27,081,724 H7R probably benign Het
Angptl2 T C 2: 33,228,616 V134A probably damaging Het
Armc8 A G 9: 99,496,149 probably null Het
Astn2 T C 4: 65,950,138 D488G probably damaging Het
Cat A T 2: 103,472,994 V146E probably damaging Het
Dmxl1 T C 18: 49,894,257 V2144A probably damaging Het
Efcab5 T G 11: 77,188,875 D15A probably benign Het
Epha10 C T 4: 124,902,653 A385V unknown Het
Erg C A 16: 95,361,031 E388D probably benign Het
Fbxo10 T A 4: 45,035,970 I931F probably damaging Het
Frem1 A G 4: 82,994,116 L673P probably damaging Het
Gm4922 A C 10: 18,784,287 I229S possibly damaging Het
Gnptab T A 10: 88,414,486 D153E probably benign Het
Htr7 T C 19: 36,057,121 M45V probably benign Het
Igkv4-51 C T 6: 69,681,927 V5M probably damaging Het
Ints7 G A 1: 191,586,618 E156K probably damaging Het
Map3k21 A G 8: 125,944,768 T932A probably benign Het
Mapk1 T G 16: 17,018,469 D160E probably benign Het
Mast4 A T 13: 102,774,193 Y479* probably null Het
Meig1 T A 2: 3,411,962 K7N probably damaging Het
Mthfd1l T A 10: 4,035,239 D548E possibly damaging Het
Myo16 A G 8: 10,569,606 R1386G probably benign Het
Nphs2 T C 1: 156,326,037 S353P probably benign Het
Olfr533 T C 7: 140,466,731 F177L probably benign Het
Olfr906 T A 9: 38,488,236 I69K probably damaging Het
Pcdha9 G T 18: 36,998,372 V165L probably benign Het
Pde3a T A 6: 141,250,502 S305T possibly damaging Het
Phf14 C A 6: 11,990,125 L718I possibly damaging Het
Plscr5 A T 9: 92,205,511 K178* probably null Het
Rab44 T C 17: 29,140,500 L554P probably damaging Het
Rab44 T A 17: 29,145,966 M645K unknown Het
Rnf222 A G 11: 68,892,897 T97A probably benign Het
Rnpepl1 T C 1: 92,918,941 S522P probably benign Het
Serinc5 A G 13: 92,688,794 I244V probably benign Het
Serpinb10 A T 1: 107,535,457 probably null Het
Siglech T A 7: 55,768,656 F124Y probably damaging Het
Smarcc2 A T 10: 128,484,127 I790L probably benign Het
Sos2 C A 12: 69,590,915 R1007S probably damaging Het
Stk4 C T 2: 164,100,564 T372M possibly damaging Het
Tbc1d10c A T 19: 4,184,964 L366H probably damaging Het
Tor4a T C 2: 25,194,920 T324A probably benign Het
Trim12a C A 7: 104,307,243 C30F probably damaging Het
Ttll3 G A 6: 113,399,708 V350M probably damaging Het
Uggt1 A T 1: 36,179,656 D63E probably damaging Het
Unc5b G A 10: 60,773,747 T590I probably benign Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Wls A C 3: 159,839,987 I16L probably benign Het
Zfp101 T C 17: 33,380,945 I612M probably benign Het
Zfp677 C A 17: 21,397,759 D359E probably damaging Het
Other mutations in Fam126a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Fam126a APN 5 23985845 splice site probably benign
IGL03365:Fam126a APN 5 23983160 missense probably benign 0.30
Dropsy UTSW 5 23999958 missense probably damaging 0.99
R0070:Fam126a UTSW 5 23964999 missense probably damaging 1.00
R0070:Fam126a UTSW 5 23964999 missense probably damaging 1.00
R0616:Fam126a UTSW 5 23986772 missense probably damaging 0.99
R0645:Fam126a UTSW 5 23979508 missense probably damaging 1.00
R1364:Fam126a UTSW 5 23965353 missense probably benign
R1462:Fam126a UTSW 5 23985732 splice site probably benign
R1544:Fam126a UTSW 5 23965141 missense probably benign 0.00
R1670:Fam126a UTSW 5 23999991 start codon destroyed possibly damaging 0.95
R1796:Fam126a UTSW 5 23986151 missense probably damaging 1.00
R4433:Fam126a UTSW 5 23979581 missense possibly damaging 0.77
R4523:Fam126a UTSW 5 23965122 missense probably benign 0.01
R5220:Fam126a UTSW 5 23965222 missense possibly damaging 0.64
R5453:Fam126a UTSW 5 23987879 splice site probably null
R5703:Fam126a UTSW 5 23980579 splice site probably null
R6144:Fam126a UTSW 5 23966369 missense possibly damaging 0.45
R6547:Fam126a UTSW 5 23965100 missense probably benign 0.04
R6579:Fam126a UTSW 5 23966383 missense possibly damaging 0.77
R6906:Fam126a UTSW 5 23999958 missense probably damaging 0.99
R6924:Fam126a UTSW 5 23986135 splice site probably null
R6959:Fam126a UTSW 5 23991756 missense possibly damaging 0.84
R7068:Fam126a UTSW 5 23964795 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CCAAGGCTATGGAGACTCAG -3'
(R):5'- ACACCAGCATGGAATTCTGG -3'

Sequencing Primer
(F):5'- GCTATGGAGACTCAGAGACATAC -3'
(R):5'- CCAGCATGGAATTCTGGAAACTATG -3'
Posted On2016-11-09