Incidental Mutation 'IGL01813:Kremen1'
ID154316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kremen1
Ensembl Gene ENSMUSG00000020393
Gene Namekringle containing transmembrane protein 1
SynonymsKrm1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01813
Quality Score
Status
Chromosome11
Chromosomal Location5191552-5261558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5199667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 335 (T335A)
Ref Sequence ENSEMBL: ENSMUSP00000020662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020662]
Predicted Effect probably benign
Transcript: ENSMUST00000020662
AA Change: T335A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393
AA Change: T335A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
KR 30 116 9.81e-23 SMART
Pfam:WSC 119 200 3.7e-21 PFAM
CUB 214 321 4.27e-19 SMART
transmembrane domain 391 413 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,928,520 S778N possibly damaging Het
Abcb11 T A 2: 69,287,592 probably benign Het
Adgrb2 T C 4: 130,012,566 V929A probably benign Het
Aldh2 T C 5: 121,572,073 I400V probably benign Het
Atxn2l T C 7: 126,500,253 D84G probably damaging Het
Avpr1a T A 10: 122,449,011 N69K probably damaging Het
BC022687 C T 12: 112,815,559 T272M probably damaging Het
BC034090 G A 1: 155,226,339 Q60* probably null Het
Bub3 T C 7: 131,568,633 S295P probably benign Het
Cacna1b T C 2: 24,609,890 S161G probably damaging Het
Col6a4 T A 9: 106,077,253 S296C probably damaging Het
Cyp4f15 G A 17: 32,686,157 R38H probably benign Het
Dync2h1 T C 9: 7,122,799 I2052M probably damaging Het
Gm11627 T C 11: 102,578,808 probably benign Het
Jmjd8 A T 17: 25,829,238 probably null Het
Kmt2c A G 5: 25,290,804 V629A possibly damaging Het
Olfr109 A G 17: 37,466,758 E184G probably damaging Het
Olfr282 A G 15: 98,437,649 Y60C possibly damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pex5l T C 3: 33,082,055 E5G probably benign Het
Pigk A T 3: 152,742,519 Q173L probably damaging Het
Pik3c2g T A 6: 139,622,409 N174K possibly damaging Het
Plb1 C T 5: 32,329,085 H893Y probably damaging Het
Pus7 T C 5: 23,760,304 probably benign Het
R3hdm1 G A 1: 128,175,233 probably null Het
Samd7 C T 3: 30,754,286 P83S probably benign Het
Supt5 T A 7: 28,323,975 Y293F probably damaging Het
Tbc1d30 T C 10: 121,267,051 D692G probably benign Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tnn A T 1: 160,088,438 H1236Q probably damaging Het
Ubr3 T C 2: 69,951,570 I667T probably benign Het
Vmn1r183 T A 7: 24,055,560 F263I probably benign Het
Other mutations in Kremen1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0038:Kremen1 UTSW 11 5207703 splice site probably benign
R0511:Kremen1 UTSW 11 5215447 missense probably damaging 1.00
R1557:Kremen1 UTSW 11 5215373 intron probably null
R1579:Kremen1 UTSW 11 5201791 unclassified probably benign
R1729:Kremen1 UTSW 11 5201791 unclassified probably benign
R1784:Kremen1 UTSW 11 5201792 unclassified probably benign
R1800:Kremen1 UTSW 11 5201791 unclassified probably benign
R2079:Kremen1 UTSW 11 5201794 frame shift probably null
R2100:Kremen1 UTSW 11 5201788 unclassified probably benign
R2286:Kremen1 UTSW 11 5201791 unclassified probably benign
R2298:Kremen1 UTSW 11 5201788 unclassified probably benign
R2352:Kremen1 UTSW 11 5201791 unclassified probably benign
R2512:Kremen1 UTSW 11 5201791 unclassified probably benign
R2761:Kremen1 UTSW 11 5201792 unclassified probably benign
R2846:Kremen1 UTSW 11 5201793 unclassified probably benign
R2882:Kremen1 UTSW 11 5201791 unclassified probably benign
R2944:Kremen1 UTSW 11 5201791 unclassified probably benign
R2980:Kremen1 UTSW 11 5201794 unclassified probably benign
R3151:Kremen1 UTSW 11 5195012 missense probably damaging 0.99
R3610:Kremen1 UTSW 11 5201791 unclassified probably benign
R3831:Kremen1 UTSW 11 5201794 unclassified probably benign
R3957:Kremen1 UTSW 11 5201791 unclassified probably benign
R4231:Kremen1 UTSW 11 5243881 nonsense probably null
R4397:Kremen1 UTSW 11 5199610 missense probably benign 0.36
R5627:Kremen1 UTSW 11 5199709 missense probably benign 0.01
R6818:Kremen1 UTSW 11 5195051 missense probably benign 0.02
R7584:Kremen1 UTSW 11 5194964 missense possibly damaging 0.95
T0975:Kremen1 UTSW 11 5195105 missense probably benign 0.02
Y4339:Kremen1 UTSW 11 5201791 unclassified probably benign
Posted On2014-02-04