Incidental Mutation 'R2846:Kremen1'
| ID |
251605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kremen1
|
| Ensembl Gene |
ENSMUSG00000020393 |
| Gene Name |
kringle containing transmembrane protein 1 |
| Synonyms |
Krm1 |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R2846 (G1)
|
| Quality Score |
126 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5141552-5211558 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GG to GGGCG
at 5151793 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Ddx4 |
T |
A |
13: 112,741,146 (GRCm39) |
K496M |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
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 |
|
|
R2286:Kremen1
|
UTSW |
11 |
5,151,791 (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 |
|
|
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'- GATCTGTAGCTGAGTCAGGAG -3'
(R):5'- GAACTACTCAGCCATGGCAG -3'
Sequencing Primer
(F):5'- CCCCCAAGATCCAATTTAGGCTTG -3'
(R):5'- ATGGCAGCCGTGGTGTACTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation