Incidental Mutation 'IGL03174:Sfrp4'
| ID |
411941 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sfrp4
|
| Ensembl Gene |
ENSMUSG00000021319 |
| Gene Name |
secreted frizzled-related protein 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
IGL03174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
19807345-19816995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19816377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 137
(Q137L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002883]
[ENSMUST00000222464]
[ENSMUST00000222992]
|
| AlphaFold |
Q9Z1N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002883
AA Change: Q295L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002883
Gene: ENSMUSG00000021319
AA Change: Q295L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FRI
|
23 |
141 |
1.8e-60 |
SMART |
|
C345C
|
187 |
290 |
2.7e-27 |
SMART |
|
low complexity region
|
306 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000221810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222464
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222992
AA Change: Q137L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight reduction in female fertility, normal body size, and normal serum phosphate and calcium levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,877,752 (GRCm39) |
L703P |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,435,110 (GRCm39) |
K602R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,733,744 (GRCm39) |
D622G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,054,969 (GRCm39) |
L287Q |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,962 (GRCm39) |
E774G |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,487,983 (GRCm39) |
S558P |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,282,666 (GRCm39) |
I781T |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,607 (GRCm39) |
R448* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,266,053 (GRCm39) |
I511F |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,542 (GRCm39) |
E23G |
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,360,100 (GRCm39) |
|
probably null |
Het |
| Grin3a |
T |
A |
4: 49,771,107 (GRCm39) |
D555V |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,251,215 (GRCm39) |
Y107C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,515 (GRCm39) |
D73G |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,767,773 (GRCm39) |
D52G |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,597,036 (GRCm39) |
R189L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,296,609 (GRCm39) |
D3315V |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,247 (GRCm39) |
S24P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,909,383 (GRCm39) |
L1616P |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,622,789 (GRCm39) |
|
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,477 (GRCm39) |
M197K |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,457,433 (GRCm39) |
M43T |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,954,331 (GRCm39) |
R1595H |
possibly damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,000 (GRCm39) |
S247N |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,999,077 (GRCm39) |
D235G |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,020,463 (GRCm39) |
I215N |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,970,975 (GRCm39) |
Y67H |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,544 (GRCm39) |
W679* |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,285,213 (GRCm39) |
L398H |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,642,870 (GRCm39) |
T99S |
probably benign |
Het |
|
| Other mutations in Sfrp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Sfrp4
|
APN |
13 |
19,807,800 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03139:Sfrp4
|
APN |
13 |
19,807,728 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0043:Sfrp4
|
UTSW |
13 |
19,807,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4366001:Sfrp4
|
UTSW |
13 |
19,814,414 (GRCm39) |
missense |
unknown |
|
|
R2021:Sfrp4
|
UTSW |
13 |
19,816,496 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4548:Sfrp4
|
UTSW |
13 |
19,807,936 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5723:Sfrp4
|
UTSW |
13 |
19,807,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Sfrp4
|
UTSW |
13 |
19,808,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Sfrp4
|
UTSW |
13 |
19,808,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Sfrp4
|
UTSW |
13 |
19,816,336 (GRCm39) |
splice site |
probably null |
|
|
R9478:Sfrp4
|
UTSW |
13 |
19,807,610 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation