Incidental Mutation 'R4548:Sfrp4'
| ID |
333876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sfrp4
|
| Ensembl Gene |
ENSMUSG00000021319 |
| Gene Name |
secreted frizzled-related protein 4 |
| Synonyms |
|
| MMRRC Submission |
041594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R4548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
19807345-19816995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19807936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 112
(M112V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002883]
[ENSMUST00000002885]
[ENSMUST00000220944]
[ENSMUST00000221014]
[ENSMUST00000222464]
[ENSMUST00000222992]
|
| AlphaFold |
Q9Z1N6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002883
AA Change: M112V
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002883
Gene: ENSMUSG00000021319
AA Change: M112V
| 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 |
probably benign
Transcript: ENSMUST00000002885
|
| SMART Domains |
Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Ependymin
|
87 |
210 |
1e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222464
AA Change: M112V
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222992
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
| Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
| Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
| Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
| Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
| Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
IGL03174:Sfrp4
|
APN |
13 |
19,816,377 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGCCATCGAACAGTATG -3'
(R):5'- AAACTTCTGGGCCCTTCAC -3'
Sequencing Primer
(F):5'- CCATCGAACAGTATGAAGAGCTAGTG -3'
(R):5'- ATCTGCTTCTCATGCGAGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation