Incidental Mutation 'R7068:Fam126a'
ID548675
Institutional Source Beutler Lab
Gene Symbol Fam126a
Ensembl Gene ENSMUSG00000028995
Gene Namefamily with sequence similarity 126, member A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.727) question?
Stock #R7068 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location23915276-24030690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23964795 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 519 (S519P)
Ref Sequence ENSEMBL: ENSMUSP00000030849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030849] [ENSMUST00000101513] [ENSMUST00000115109] [ENSMUST00000197617]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030849
AA Change: S519P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: S519P

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 benign
Transcript: ENSMUST00000101513
SMART Domains Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 8e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115109
SMART Domains Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995

DomainStartEndE-ValueType
Pfam:Hyccin 20 330 2.2e-141 PFAM
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,622,580 H24R probably benign Het
Ago2 A T 15: 73,146,450 F46L probably damaging Het
Amd1 A G 10: 40,290,512 F123L probably benign Het
Arhgef10 T C 8: 14,958,639 F546L probably damaging Het
Asic2 G A 11: 81,152,255 H71Y probably benign Het
Asphd1 A G 7: 126,948,678 V151A probably benign Het
Best3 T C 10: 116,988,638 V3A probably damaging Het
C4b A G 17: 34,733,477 L1196P probably damaging Het
Cd22 A G 7: 30,878,079 V3A probably benign Het
Cdkl3 T C 11: 52,011,327 probably null Het
Clcnka A T 4: 141,387,110 V631E probably damaging Het
Cmya5 A G 13: 93,092,697 V1961A possibly damaging Het
Dnah14 A G 1: 181,769,790 E3559G probably benign Het
Emsy A T 7: 98,610,761 D39E probably benign Het
Fbxl16 G T 17: 25,819,511 V477F possibly damaging Het
Flt1 A T 5: 147,673,634 I393N probably damaging Het
Gabra4 A T 5: 71,572,059 N433K probably benign Het
Gatad1 T C 5: 3,643,540 R210G probably benign Het
Ghsr T A 3: 27,371,837 V14D probably benign Het
Glb1l A G 1: 75,202,737 Y183H probably damaging Het
Ighv3-4 T C 12: 114,253,654 T106A probably damaging Het
Ik T G 18: 36,755,465 F439V possibly damaging Het
Itih5 T C 2: 10,249,304 S789P probably damaging Het
Kcnj8 T C 6: 142,566,239 D214G probably damaging Het
Kdm5a C A 6: 120,430,215 H1464N probably benign Het
Klb A T 5: 65,379,340 Y671F probably damaging Het
Kremen2 C A 17: 23,741,885 R421L possibly damaging Het
Mroh9 T A 1: 163,039,181 D662V probably damaging Het
Mtmr12 T G 15: 12,257,670 M278R probably null Het
Ndufa8 T C 2: 36,044,435 M44V possibly damaging Het
Nedd4l A T 18: 65,205,651 R695S probably damaging Het
Nuf2 G A 1: 169,522,419 P97S probably damaging Het
Olfr1018 T C 2: 85,823,052 V27A probably benign Het
Olfr206 T C 16: 59,345,204 T166A possibly damaging Het
Olfr310 A C 7: 86,269,537 L84R probably damaging Het
P4ha2 A G 11: 54,110,994 T33A probably benign Het
Parp1 A G 1: 180,588,668 H544R probably damaging Het
Plec A G 15: 76,177,769 L2678P probably damaging Het
Rad1 T A 15: 10,490,293 Y85* probably null Het
Sema6d A G 2: 124,657,821 I309V probably benign Het
Skint2 T C 4: 112,624,351 V137A probably damaging Het
Slc23a3 T C 1: 75,133,233 N130S probably benign Het
Slc35f1 T C 10: 53,062,500 F176S probably damaging Het
Slc44a2 T A 9: 21,320,848 Y10N probably benign Het
Smarcc1 A G 9: 110,185,884 T506A probably damaging Het
Smchd1 A T 17: 71,387,092 S1219R probably benign Het
Smco1 A G 16: 32,274,111 N200S probably benign Het
Srcap A G 7: 127,541,943 T1571A probably benign Het
Strip2 C T 6: 29,932,208 T459I probably benign Het
Tarbp1 C T 8: 126,427,034 A1560T probably damaging Het
Tcl1b1 T A 12: 105,159,693 probably benign Het
Tdrd5 T C 1: 156,284,271 E436G probably damaging Het
Trim31 T A 17: 36,898,516 C55S probably damaging Het
Tsr1 G T 11: 74,903,919 E467* probably null Het
Tulp4 T A 17: 6,185,289 D178E probably damaging Het
Vmn1r30 A G 6: 58,435,010 V279A possibly damaging Het
Vmn2r98 A G 17: 19,065,313 R132G probably benign 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
R5694:Fam126a UTSW 5 23991796 missense probably damaging 1.00
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
R7699:Fam126a UTSW 5 23915496 missense probably damaging 0.98
R8748:Fam126a UTSW 5 23965322 missense probably benign 0.17
R8785:Fam126a UTSW 5 23964906 missense probably damaging 1.00
R8958:Fam126a UTSW 5 23964936 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACATCTCAGCTTACTGCAAACTAG -3'
(R):5'- ACTGCGGCCACTGTATTTAG -3'

Sequencing Primer
(F):5'- ACTGCAAACTAGACATTATTCCCTTC -3'
(R):5'- CCTTTGAACAAGTCAGTGGTGCC -3'
Posted On2019-05-13