Incidental Mutation 'R5627:Kremen1'
ID |
501342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kremen1
|
Ensembl Gene |
ENSMUSG00000020393 |
Gene Name |
kringle containing transmembrane protein 1 |
Synonyms |
Krm1 |
MMRRC Submission |
043166-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
5141552-5211558 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5149709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 321
(T321A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020662]
|
AlphaFold |
Q99N43 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020662
AA Change: T321A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000020662 Gene: ENSMUSG00000020393 AA Change: T321A
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
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 |
|
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 |
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'- AATATCCCAACATGTGTCTGCAGG -3'
(R):5'- TGAGTCCCACATGTGCTTCC -3'
Sequencing Primer
(F):5'- TGAAAGAACTACCTTCCACTCTGTG -3'
(R):5'- CGCATTTCCATGTTCCCCACG -3'
|
Posted On |
2017-12-01 |