Incidental Mutation 'R2286:Kremen1'
| ID |
243308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kremen1
|
| Ensembl Gene |
ENSMUSG00000020393 |
| Gene Name |
kringle containing transmembrane protein 1 |
| Synonyms |
Krm1 |
| MMRRC Submission |
040285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R2286 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5141552-5211558 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CGGG to CGGGGGG
at 5151791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020662]
|
| AlphaFold |
Q99N43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020662
|
| SMART Domains |
Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151978
|
| SMART Domains |
Protein: ENSMUSP00000121252
Gene: ENSMUSG00000020393
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WSC
|
17 |
98 |
2.3e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,195,616 (GRCm39) |
R308H |
probably damaging |
Het |
| Alox5ap |
G |
A |
5: 149,222,240 (GRCm39) |
|
probably null |
Het |
| Ap2s1 |
T |
C |
7: 16,482,901 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cdr2l |
GAA |
GA |
11: 115,283,626 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
T |
C |
19: 10,512,660 (GRCm39) |
L248P |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,477,786 (GRCm39) |
|
probably null |
Het |
| Eci1 |
A |
G |
17: 24,652,203 (GRCm39) |
D75G |
probably damaging |
Het |
| Luc7l |
A |
G |
17: 26,499,020 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
C |
11: 86,210,515 (GRCm39) |
D542E |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,173,494 (GRCm39) |
S545P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,252 (GRCm39) |
I163V |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,500,675 (GRCm39) |
N204I |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,096,571 (GRCm39) |
N592K |
possibly damaging |
Het |
| Sgip1 |
G |
T |
4: 102,724,844 (GRCm39) |
S59I |
possibly damaging |
Het |
| Slc39a5 |
A |
G |
10: 128,231,929 (GRCm39) |
V532A |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,299,612 (GRCm39) |
M123I |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,551 (GRCm39) |
T185A |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,938,079 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,083,203 (GRCm39) |
K1618E |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,815,958 (GRCm39) |
L799P |
probably damaging |
Het |
| Vps26c |
C |
T |
16: 94,313,112 (GRCm39) |
E60K |
possibly damaging |
Het |
|
| Other mutations in Kremen1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01813:Kremen1
|
APN |
11 |
5,149,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0038:Kremen1
|
UTSW |
11 |
5,157,703 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Kremen1
|
UTSW |
11 |
5,165,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Kremen1
|
UTSW |
11 |
5,165,373 (GRCm39) |
splice site |
probably null |
|
|
R1579:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R1729:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R1784:Kremen1
|
UTSW |
11 |
5,151,792 (GRCm39) |
unclassified |
probably benign |
|
|
R1800:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R2079:Kremen1
|
UTSW |
11 |
5,151,794 (GRCm39) |
frame shift |
probably null |
|
|
R2100:Kremen1
|
UTSW |
11 |
5,151,788 (GRCm39) |
unclassified |
probably benign |
|
|
R2298:Kremen1
|
UTSW |
11 |
5,151,788 (GRCm39) |
unclassified |
probably benign |
|
|
R2352:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R2512:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R2761:Kremen1
|
UTSW |
11 |
5,151,792 (GRCm39) |
unclassified |
probably benign |
|
|
R2846:Kremen1
|
UTSW |
11 |
5,151,793 (GRCm39) |
unclassified |
probably benign |
|
|
R2882:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R2944:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R2980:Kremen1
|
UTSW |
11 |
5,151,794 (GRCm39) |
unclassified |
probably benign |
|
|
R3151:Kremen1
|
UTSW |
11 |
5,145,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3610:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R3831:Kremen1
|
UTSW |
11 |
5,151,794 (GRCm39) |
unclassified |
probably benign |
|
|
R3957:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
R4231:Kremen1
|
UTSW |
11 |
5,193,881 (GRCm39) |
nonsense |
probably null |
|
|
R4397:Kremen1
|
UTSW |
11 |
5,149,610 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5627:Kremen1
|
UTSW |
11 |
5,149,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6818:Kremen1
|
UTSW |
11 |
5,145,051 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7584:Kremen1
|
UTSW |
11 |
5,144,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8803:Kremen1
|
UTSW |
11 |
5,144,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
T0975:Kremen1
|
UTSW |
11 |
5,145,105 (GRCm39) |
missense |
probably benign |
0.02 |
|
Y4339:Kremen1
|
UTSW |
11 |
5,151,791 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTAGCTGAGTCAGGAGG -3'
(R):5'- AACTACTCAGCCATGGCAGC -3'
Sequencing Primer
(F):5'- TCAGGAGGACCAAGTGTGCC -3'
(R):5'- ATGGCAGCCGTGGTGTACTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation