Incidental Mutation 'R2980:Kremen1'
| ID |
257058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kremen1
|
| Ensembl Gene |
ENSMUSG00000020393 |
| Gene Name |
kringle containing transmembrane protein 1 |
| Synonyms |
Krm1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R2980 (G1)
|
| Quality Score |
133 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5141552-5211558 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to GGGT
at 5151794 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,633,034 (GRCm39) |
I236T |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,605,817 (GRCm39) |
L2489P |
probably damaging |
Het |
| Astn1 |
G |
T |
1: 158,400,521 (GRCm39) |
|
probably null |
Het |
| BC051665 |
T |
C |
13: 60,932,209 (GRCm39) |
T127A |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,794 (GRCm39) |
Y119C |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,748,619 (GRCm39) |
D452E |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Jak1 |
T |
C |
4: 101,036,978 (GRCm39) |
I221V |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,962 (GRCm39) |
E29G |
probably damaging |
Het |
| Tox4 |
T |
C |
14: 52,529,983 (GRCm39) |
S548P |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Zfy1 |
T |
C |
Y: 739,054 (GRCm39) |
N51D |
unknown |
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 |
|
|
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 |
|
|
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'- GTTGAAATGATCTGTAGCTGAGTC -3'
(R):5'- TGACTTCCCTGACACCTACG -3'
Sequencing Primer
(F):5'- CCCCAAGATCCAATTTAGGCTTG -3'
(R):5'- TGACACCTACGCCACTGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation