Incidental Mutation 'IGL01813:Kremen1'
| ID |
154316 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5141552-5211558 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5149667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020662]
|
| AlphaFold |
Q99N43 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020662
AA Change: T335A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000020662
Gene: ENSMUSG00000020393
AA Change: T335A
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,117,936 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,359 (GRCm39) |
V929A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,136 (GRCm39) |
I400V |
probably benign |
Het |
| Atxn2l |
T |
C |
7: 126,099,425 (GRCm39) |
D84G |
probably damaging |
Het |
| Avpr1a |
T |
A |
10: 122,284,916 (GRCm39) |
N69K |
probably damaging |
Het |
| BC034090 |
G |
A |
1: 155,102,085 (GRCm39) |
Q60* |
probably null |
Het |
| Bltp1 |
G |
A |
3: 36,982,669 (GRCm39) |
S778N |
possibly damaging |
Het |
| Bub3 |
T |
C |
7: 131,170,362 (GRCm39) |
S295P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,499,902 (GRCm39) |
S161G |
probably damaging |
Het |
| Clba1 |
C |
T |
12: 112,779,179 (GRCm39) |
T272M |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,954,452 (GRCm39) |
S296C |
probably damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,122,799 (GRCm39) |
I2052M |
probably damaging |
Het |
| Gm11627 |
T |
C |
11: 102,469,634 (GRCm39) |
|
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,212 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
G |
5: 25,495,802 (GRCm39) |
V629A |
possibly damaging |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,649 (GRCm39) |
E184G |
probably damaging |
Het |
| Or8s10 |
A |
G |
15: 98,335,530 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,156 (GRCm39) |
Q173L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,599,407 (GRCm39) |
N174K |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,486,429 (GRCm39) |
H893Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,965,302 (GRCm39) |
|
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,102,970 (GRCm39) |
|
probably null |
Het |
| Samd7 |
C |
T |
3: 30,808,435 (GRCm39) |
P83S |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,023,400 (GRCm39) |
Y293F |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,102,956 (GRCm39) |
D692G |
probably benign |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,916,008 (GRCm39) |
H1236Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,914 (GRCm39) |
I667T |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,985 (GRCm39) |
F263I |
probably benign |
Het |
|
| Other mutations in Kremen1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation