Incidental Mutation 'R2944:Kremen1'
ID |
264631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kremen1
|
Ensembl Gene |
ENSMUSG00000020393 |
Gene Name |
kringle containing transmembrane protein 1 |
Synonyms |
Krm1 |
MMRRC Submission |
040518-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R2944 (G1)
|
Quality Score |
146 |
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
T |
C |
7: 133,577,236 (GRCm39) |
M179V |
probably null |
Het |
Alms1 |
C |
T |
6: 85,605,373 (GRCm39) |
T2341I |
probably damaging |
Het |
Bpnt1 |
A |
G |
1: 185,084,406 (GRCm39) |
T168A |
probably damaging |
Het |
Cdcp2 |
A |
C |
4: 106,959,755 (GRCm39) |
S57R |
possibly damaging |
Het |
Cmya5 |
T |
A |
13: 93,229,350 (GRCm39) |
K1913* |
probably null |
Het |
Coro1c |
C |
G |
5: 113,988,861 (GRCm39) |
G161R |
probably damaging |
Het |
Csnk1a1 |
T |
C |
18: 61,711,760 (GRCm39) |
M258T |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,550,333 (GRCm39) |
C3318R |
probably damaging |
Het |
Fyco1 |
A |
T |
9: 123,655,713 (GRCm39) |
M1015K |
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,020,196 (GRCm39) |
S290P |
probably damaging |
Het |
Lce1i |
G |
A |
3: 92,685,063 (GRCm39) |
P38S |
unknown |
Het |
Nup210l |
T |
A |
3: 90,088,852 (GRCm39) |
S1156T |
probably damaging |
Het |
Or8g35 |
A |
T |
9: 39,381,234 (GRCm39) |
S263T |
possibly damaging |
Het |
Sec14l5 |
T |
A |
16: 4,998,697 (GRCm39) |
I579N |
probably benign |
Het |
Semp2l2a |
A |
T |
8: 13,887,212 (GRCm39) |
L293Q |
probably damaging |
Het |
Sh3tc1 |
C |
A |
5: 35,871,504 (GRCm39) |
V107L |
probably damaging |
Het |
Tmprss11a |
T |
G |
5: 86,576,511 (GRCm39) |
R113S |
probably benign |
Het |
Trmt10b |
A |
G |
4: 45,300,445 (GRCm39) |
M1V |
probably null |
Het |
Ush1c |
T |
C |
7: 45,850,406 (GRCm39) |
E791G |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,138,606 (GRCm39) |
L328P |
probably damaging |
Het |
Utrn |
G |
T |
10: 12,519,163 (GRCm39) |
T2263K |
probably 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 |
|
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 |
|
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'- GTTGAAATGATCTGTAGCTGAGTC -3'
(R):5'- TGACTTCCCTGACACCTACG -3'
Sequencing Primer
(F):5'- TCAGGAGGACCAAGTGTGCC -3'
(R):5'- TGACACCTACGCCACTGG -3'
|
Posted On |
2015-02-05 |