Incidental Mutation 'R2901:Ssc4d'
| ID |
261467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssc4d
|
| Ensembl Gene |
ENSMUSG00000029699 |
| Gene Name |
scavenger receptor cysteine rich family, 4 domains |
| Synonyms |
Srcrb4d, C330016E03Rik |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135989074-136003389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135993517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 113
(P113L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054895]
[ENSMUST00000111150]
[ENSMUST00000111152]
[ENSMUST00000111153]
[ENSMUST00000153823]
[ENSMUST00000154181]
|
| AlphaFold |
A1L0T3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054895
|
| SMART Domains |
Protein: ENSMUSP00000050439
Gene: ENSMUSG00000029699
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
32 |
132 |
1.99e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111150
|
| SMART Domains |
Protein: ENSMUSP00000106780
Gene: ENSMUSG00000029699
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
6 |
106 |
1.99e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111152
AA Change: P312L
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: P312L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
SR
|
69 |
169 |
1.44e-48 |
SMART |
|
SR
|
200 |
300 |
6.78e-54 |
SMART |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
SR
|
355 |
455 |
2.04e-48 |
SMART |
|
SR
|
484 |
584 |
1.99e-51 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111153
AA Change: P312L
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: P312L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
SR
|
69 |
169 |
1.44e-48 |
SMART |
|
SR
|
200 |
300 |
6.78e-54 |
SMART |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
SR
|
355 |
455 |
2.04e-48 |
SMART |
|
SR
|
484 |
584 |
1.99e-51 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153823
AA Change: P113L
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122958
Gene: ENSMUSG00000029699
AA Change: P113L
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
1 |
101 |
6.78e-54 |
SMART |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154181
|
| SMART Domains |
Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
SR
|
69 |
169 |
1.44e-48 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154696
AA Change: P98L
|
| SMART Domains |
Protein: ENSMUSP00000117071
Gene: ENSMUSG00000029699
AA Change: P98L
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
2 |
61 |
5.24e-5 |
SMART |
|
low complexity region
|
88 |
102 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
probably benign |
Het |
|
| Other mutations in Ssc4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Ssc4d
|
APN |
5 |
135,996,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Ssc4d
|
APN |
5 |
135,999,192 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02821:Ssc4d
|
APN |
5 |
135,994,923 (GRCm39) |
splice site |
probably benign |
|
|
IGL03343:Ssc4d
|
APN |
5 |
135,990,028 (GRCm39) |
nonsense |
probably null |
|
|
R2051:Ssc4d
|
UTSW |
5 |
135,999,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:Ssc4d
|
UTSW |
5 |
135,999,171 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2508:Ssc4d
|
UTSW |
5 |
135,994,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Ssc4d
|
UTSW |
5 |
135,993,517 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2939:Ssc4d
|
UTSW |
5 |
135,994,578 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3081:Ssc4d
|
UTSW |
5 |
135,994,578 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4038:Ssc4d
|
UTSW |
5 |
135,999,170 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4181:Ssc4d
|
UTSW |
5 |
135,990,778 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4590:Ssc4d
|
UTSW |
5 |
135,993,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Ssc4d
|
UTSW |
5 |
135,999,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5411:Ssc4d
|
UTSW |
5 |
135,992,254 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5583:Ssc4d
|
UTSW |
5 |
135,999,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5662:Ssc4d
|
UTSW |
5 |
135,989,748 (GRCm39) |
makesense |
probably null |
|
|
R5681:Ssc4d
|
UTSW |
5 |
135,999,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Ssc4d
|
UTSW |
5 |
135,994,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6962:Ssc4d
|
UTSW |
5 |
135,991,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7258:Ssc4d
|
UTSW |
5 |
135,991,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Ssc4d
|
UTSW |
5 |
135,996,810 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7360:Ssc4d
|
UTSW |
5 |
135,994,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Ssc4d
|
UTSW |
5 |
135,991,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Ssc4d
|
UTSW |
5 |
135,990,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ssc4d
|
UTSW |
5 |
135,989,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTCTGGGTGTCATCTG -3'
(R):5'- AATTAAAGGTCAGCATTGGAGC -3'
Sequencing Primer
(F):5'- GGGTGTCATCTGCTGCCATC -3'
(R):5'- AGGCCTGCTGGTACATACTTACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation