Incidental Mutation 'R2060:BC017158'
ID 228604
Institutional Source Beutler Lab
Gene Symbol BC017158
Ensembl Gene ENSMUSG00000030780
Gene Name cDNA sequence BC017158
Synonyms MGC:28903
MMRRC Submission 040065-MU
Accession Numbers

Genbank: NM_145590; MGI: 2384572

Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2060 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 128271379-128298170 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128288331 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 176 (L176P)
Ref Sequence ENSEMBL: ENSMUSP00000114673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000126263] [ENSMUST00000137677]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033044
AA Change: L176P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: L176P

Pfam:DUF647 62 301 5.6e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124216
Predicted Effect probably damaging
Transcript: ENSMUST00000126263
AA Change: L176P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: L176P

Pfam:DUF647 61 304 3e-102 PFAM
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137677
AA Change: L33P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117520
Gene: ENSMUSG00000030780
AA Change: L33P

Pfam:DUF647 1 64 4.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175474
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430408G22Rik G A 6: 116,651,722 (GRCm38) V9M possibly damaging Het
Abca14 G A 7: 120,227,518 (GRCm38) W462* probably null Het
Aftph A T 11: 20,692,571 (GRCm38) Y821N probably damaging Het
Ahnak A T 19: 9,008,041 (GRCm38) M2230L probably benign Het
Arfgap1 T C 2: 180,972,782 (GRCm38) F144L probably benign Het
Arid4b C T 13: 14,195,452 (GRCm38) R1178C probably damaging Het
Asb8 A T 15: 98,141,373 (GRCm38) C49S possibly damaging Het
Baz1b A G 5: 135,205,114 (GRCm38) N165S probably damaging Het
Bod1l A T 5: 41,808,742 (GRCm38) I2660N possibly damaging Het
C2cd3 T C 7: 100,454,948 (GRCm38) I825T probably damaging Het
C4b A G 17: 34,736,101 (GRCm38) W804R probably damaging Het
Cadm3 A T 1: 173,344,402 (GRCm38) D201E probably damaging Het
Cdh17 T C 4: 11,803,982 (GRCm38) F552L probably benign Het
Cdh7 G C 1: 110,048,877 (GRCm38) A91P probably damaging Het
Cela1 A G 15: 100,675,322 (GRCm38) probably null Het
Clk3 T C 9: 57,751,117 (GRCm38) Y582C probably damaging Het
Cma1 C T 14: 55,943,698 (GRCm38) probably null Het
Ctcfl A G 2: 173,118,506 (GRCm38) S95P probably benign Het
Cylc1 C A X: 111,123,123 (GRCm38) T391K unknown Het
Cyp3a11 T A 5: 145,855,081 (GRCm38) I501L probably benign Het
Cyp3a59 T A 5: 146,104,714 (GRCm38) L356Q probably damaging Het
Dcdc2a A C 13: 25,107,710 (GRCm38) D226A possibly damaging Het
Dlec1 A C 9: 119,112,086 (GRCm38) T235P probably damaging Het
Dnaaf1 G A 8: 119,590,602 (GRCm38) R290Q probably benign Het
Dnaaf5 C T 5: 139,178,003 (GRCm38) R377W probably damaging Het
Dpep1 T A 8: 123,200,391 (GRCm38) V293E probably damaging Het
Drosha T A 15: 12,924,159 (GRCm38) V1209E possibly damaging Het
Dync2h1 T G 9: 7,162,802 (GRCm38) I596L possibly damaging Het
Edem1 T A 6: 108,854,287 (GRCm38) Y570N probably damaging Het
Edrf1 G T 7: 133,657,129 (GRCm38) E9* probably null Het
Enpep T A 3: 129,280,523 (GRCm38) N792Y probably benign Het
Enpp2 A T 15: 54,875,714 (GRCm38) M391K probably damaging Het
Fanca A C 8: 123,274,481 (GRCm38) V1105G probably damaging Het
Fbxo22 T A 9: 55,218,383 (GRCm38) L74I probably damaging Het
Fchsd2 T A 7: 101,277,417 (GRCm38) F571L probably benign Het
Fhad1 T C 4: 141,899,249 (GRCm38) D1345G probably benign Het
G2e3 T C 12: 51,372,606 (GRCm38) F702L probably damaging Het
Glce A T 9: 62,060,946 (GRCm38) S308T possibly damaging Het
Glt1d1 A G 5: 127,657,119 (GRCm38) D119G probably benign Het
Gpr137c T C 14: 45,244,159 (GRCm38) I144T probably damaging Het
Gprin3 A G 6: 59,354,519 (GRCm38) C268R possibly damaging Het
Hadha G A 5: 30,128,836 (GRCm38) T395M probably benign Het
Hdhd2 T G 18: 76,965,042 (GRCm38) probably null Het
Homer2 C T 7: 81,618,703 (GRCm38) E70K probably benign Het
Hp1bp3 T A 4: 138,240,672 (GRCm38) D397E probably damaging Het
Hrh3 T C 2: 180,101,250 (GRCm38) N195S possibly damaging Het
Hyou1 T C 9: 44,381,552 (GRCm38) V153A probably benign Het
Igf2r A T 17: 12,701,319 (GRCm38) S1378T possibly damaging Het
Ints4 G A 7: 97,501,763 (GRCm38) R279H possibly damaging Het
Itga10 A T 3: 96,654,998 (GRCm38) R699* probably null Het
Itpkb A G 1: 180,421,858 (GRCm38) T933A probably benign Het
Itsn2 T G 12: 4,627,879 (GRCm38) F79V probably damaging Het
Jak3 A T 8: 71,683,415 (GRCm38) K620* probably null Het
Jak3 C A 8: 71,680,714 (GRCm38) C350* probably null Het
Kcnq5 T C 1: 21,461,597 (GRCm38) S421G probably benign Het
Kdm2b A T 5: 122,883,365 (GRCm38) M50K probably damaging Het
Klk1b1 A G 7: 43,970,623 (GRCm38) D170G possibly damaging Het
Lama3 A T 18: 12,528,726 (GRCm38) T2160S probably benign Het
Lman1 A T 18: 65,998,352 (GRCm38) probably benign Het
Lmtk3 G A 7: 45,800,911 (GRCm38) probably null Het
Ltb A G 17: 35,195,763 (GRCm38) R180G probably damaging Het
Ltbp4 C T 7: 27,308,953 (GRCm38) R1310Q probably damaging Het
Macf1 T A 4: 123,499,919 (GRCm38) probably null Het
Mast4 G T 13: 102,738,846 (GRCm38) P1146Q probably damaging Het
Micall2 C T 5: 139,711,562 (GRCm38) S678N probably damaging Het
Mon2 A T 10: 122,995,776 (GRCm38) I1675N probably damaging Het
Mug2 A G 6: 122,079,612 (GRCm38) N1172S probably benign Het
Naa30 C G 14: 49,173,099 (GRCm38) S161R possibly damaging Het
Ncaph T C 2: 127,124,875 (GRCm38) N220D probably damaging Het
Nell1 T C 7: 50,560,830 (GRCm38) V497A possibly damaging Het
Ngly1 A G 14: 16,277,877 (GRCm38) N142S possibly damaging Het
Nin T A 12: 70,042,418 (GRCm38) T1408S possibly damaging Het
Nlrp4g T A 9: 124,349,693 (GRCm38) noncoding transcript Het
Nrg1 T G 8: 31,918,015 (GRCm38) E63D probably damaging Het
Ntn4 C T 10: 93,707,353 (GRCm38) R314W probably damaging Het
Olfr1167 T C 2: 88,149,143 (GRCm38) Y292C probably damaging Het
Olfr128 A G 17: 37,923,880 (GRCm38) T105A probably benign Het
Olfr473 C T 7: 107,933,661 (GRCm38) T47M probably benign Het
Olfr522 T A 7: 140,162,824 (GRCm38) E42V probably damaging Het
Olfr845 A G 9: 19,339,056 (GRCm38) I199V probably benign Het
Olfr851 T A 9: 19,497,237 (GRCm38) V163E possibly damaging Het
Olfr867 A T 9: 20,054,596 (GRCm38) I289N probably damaging Het
Olfr998 G A 2: 85,591,283 (GRCm38) V248I possibly damaging Het
Orc5 C T 5: 22,516,703 (GRCm38) probably null Het
Pard3 G A 8: 127,398,604 (GRCm38) R691Q probably benign Het
Pofut1 T A 2: 153,243,660 (GRCm38) D54E probably benign Het
Prl2c5 T A 13: 13,190,653 (GRCm38) V128E probably damaging Het
Ptk7 T C 17: 46,566,238 (GRCm38) M965V possibly damaging Het
Pum2 C T 12: 8,728,726 (GRCm38) R459* probably null Het
Pzp A T 6: 128,483,710 (GRCm38) N1494K probably benign Het
Rad21l A G 2: 151,645,429 (GRCm38) V545A probably benign Het
Rps6kc1 A T 1: 190,810,108 (GRCm38) M352K possibly damaging Het
Rpusd2 G A 2: 119,037,215 (GRCm38) probably null Het
Rsph14 A T 10: 75,029,771 (GRCm38) D78E probably damaging Het
Rtl9 A T X: 143,102,030 (GRCm38) M813L possibly damaging Het
Rtp4 A T 16: 23,612,940 (GRCm38) H74L probably damaging Het
Rusc1 G A 3: 89,087,848 (GRCm38) T725I possibly damaging Het
Ryr2 C T 13: 11,595,736 (GRCm38) C4068Y probably damaging Het
Ryr3 A G 2: 112,954,364 (GRCm38) V224A possibly damaging Het
Shprh A T 10: 11,152,120 (GRCm38) N157I probably benign Het
Siglece A G 7: 43,657,786 (GRCm38) I67T probably benign Het
Slc9b2 A T 3: 135,326,266 (GRCm38) T296S probably damaging Het
Sorbs2 A G 8: 45,775,629 (GRCm38) K276E probably damaging Het
Synj2 A G 17: 6,037,480 (GRCm38) T1269A probably benign Het
Taar7b T C 10: 24,000,675 (GRCm38) I246T possibly damaging Het
Taldo1 A G 7: 141,396,154 (GRCm38) Y113C probably damaging Het
Tarbp1 A T 8: 126,447,594 (GRCm38) probably null Het
Tars C T 15: 11,394,373 (GRCm38) M59I probably benign Het
Tas2r130 G A 6: 131,630,817 (GRCm38) T5I probably benign Het
Tex48 T C 4: 63,607,415 (GRCm38) E77G probably damaging Het
Tmco5 A G 2: 116,892,255 (GRCm38) R286G probably damaging Het
Trdmt1 A T 2: 13,519,914 (GRCm38) H243Q probably benign Het
Ttn G A 2: 76,897,580 (GRCm38) probably benign Het
Ttn T A 2: 76,734,294 (GRCm38) R26754* probably null Het
Ubqln3 A C 7: 104,142,151 (GRCm38) L244R probably damaging Het
Ubxn1 C T 19: 8,873,566 (GRCm38) R115* probably null Het
Umod T G 7: 119,476,715 (GRCm38) N276T probably damaging Het
Unc13c A T 9: 73,665,656 (GRCm38) L1528Q probably damaging Het
Unc80 T A 1: 66,640,595 (GRCm38) H2108Q possibly damaging Het
Utp20 A C 10: 88,774,795 (GRCm38) D1442E probably damaging Het
Utp4 A G 8: 106,898,521 (GRCm38) Q144R probably benign Het
Vmn2r17 T A 5: 109,427,209 (GRCm38) N127K probably benign Het
Vmn2r75 T A 7: 86,165,164 (GRCm38) T374S probably benign Het
Washc5 A G 15: 59,350,408 (GRCm38) F523L probably damaging Het
Wdr3 A T 3: 100,159,897 (GRCm38) probably null Het
Wdr89 T C 12: 75,632,988 (GRCm38) Y164C probably damaging Het
Xpo5 T C 17: 46,225,091 (GRCm38) S550P probably damaging Het
Zfp69 T C 4: 120,930,832 (GRCm38) T429A probably damaging Het
Zfpm1 G T 8: 122,336,592 (GRCm38) G797C probably benign Het
Other mutations in BC017158
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02451:BC017158 APN 7 128,276,410 (GRCm38) missense probably damaging 1.00
IGL02527:BC017158 APN 7 128,276,231 (GRCm38) missense possibly damaging 0.92
IGL02572:BC017158 APN 7 128,290,580 (GRCm38) splice site probably benign
3-1:BC017158 UTSW 7 128,276,129 (GRCm38) missense possibly damaging 0.87
PIT4445001:BC017158 UTSW 7 128,276,534 (GRCm38) missense probably benign 0.15
R0364:BC017158 UTSW 7 128,290,614 (GRCm38) missense probably damaging 1.00
R0590:BC017158 UTSW 7 128,297,470 (GRCm38) missense probably damaging 1.00
R0616:BC017158 UTSW 7 128,272,631 (GRCm38) splice site probably null
R3849:BC017158 UTSW 7 128,285,208 (GRCm38) missense probably damaging 1.00
R4487:BC017158 UTSW 7 128,288,358 (GRCm38) missense probably damaging 1.00
R4510:BC017158 UTSW 7 128,276,140 (GRCm38) missense probably damaging 0.99
R4511:BC017158 UTSW 7 128,276,140 (GRCm38) missense probably damaging 0.99
R4708:BC017158 UTSW 7 128,274,680 (GRCm38) missense probably benign 0.00
R4793:BC017158 UTSW 7 128,288,202 (GRCm38) intron probably benign
R4983:BC017158 UTSW 7 128,276,473 (GRCm38) unclassified probably benign
R5502:BC017158 UTSW 7 128,285,136 (GRCm38) missense probably damaging 1.00
R6181:BC017158 UTSW 7 128,297,460 (GRCm38) critical splice donor site probably null
R6312:BC017158 UTSW 7 128,273,543 (GRCm38) missense probably benign 0.02
R7898:BC017158 UTSW 7 128,298,005 (GRCm38) missense probably benign 0.08
R8322:BC017158 UTSW 7 128,290,614 (GRCm38) missense probably damaging 1.00
R8953:BC017158 UTSW 7 128,273,506 (GRCm38) missense probably benign 0.01
R9600:BC017158 UTSW 7 128,276,504 (GRCm38) missense possibly damaging 0.81
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-09-17