Incidental Mutation 'R4038:Ssc4d'
| ID |
313794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssc4d
|
| Ensembl Gene |
ENSMUSG00000029699 |
| Gene Name |
scavenger receptor cysteine rich family, 4 domains |
| Synonyms |
Srcrb4d, C330016E03Rik |
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135989074-136003389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 135999170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 11
(W11L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111152]
[ENSMUST00000111153]
[ENSMUST00000153823]
[ENSMUST00000154181]
|
| AlphaFold |
A1L0T3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111152
AA Change: W11L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: W11L
| 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: ENSMUST00000111153
AA Change: W11L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: W11L
| 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: ENSMUST00000153823
|
| SMART Domains |
Protein: ENSMUSP00000122958
Gene: ENSMUSG00000029699
| Domain | Start | End | E-Value | Type |
|---|
|
SR
|
1 |
101 |
6.78e-54 |
SMART |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154181
AA Change: W11L
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699
AA Change: W11L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
|
SR
|
69 |
169 |
1.44e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154696
|
| SMART Domains |
Protein: ENSMUSP00000117071
Gene: ENSMUSG00000029699
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
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 |
|
R2901:Ssc4d
|
UTSW |
5 |
135,993,517 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
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'- AGCTGGCTATCGGGGAAAAC -3'
(R):5'- ATGCAGCCCCTTATGAATCTC -3'
Sequencing Primer
(F):5'- CTATCGGGGAAAACAGAGCTAG -3'
(R):5'- GTAGCAGACTCTAGGCTAGCATTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation