Incidental Mutation 'R4181:Ssc4d'
| ID |
319734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ssc4d
|
| Ensembl Gene |
ENSMUSG00000029699 |
| Gene Name |
scavenger receptor cysteine rich family, 4 domains |
| Synonyms |
Srcrb4d, C330016E03Rik |
| MMRRC Submission |
041017-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R4181 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135989074-136003389 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135990778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 470
(E470G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054895]
[ENSMUST00000111150]
[ENSMUST00000111152]
[ENSMUST00000111153]
[ENSMUST00000153823]
[ENSMUST00000154181]
|
| AlphaFold |
A1L0T3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054895
AA Change: E18G
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050439
Gene: ENSMUSG00000029699
AA Change: E18G
| 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 |
possibly damaging
Transcript: ENSMUST00000111152
AA Change: E470G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: E470G
| 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: E470G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: E470G
| 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 |
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 |
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 |
0.0992 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
92% (48/52) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
| Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
| Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
| Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lpcat3 |
C |
T |
6: 124,680,187 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or7g30 |
C |
T |
9: 19,353,031 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rorc |
G |
A |
3: 94,294,500 (GRCm39) |
C33Y |
probably damaging |
Het |
| Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
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 |
|
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 |
|
R4038:Ssc4d
|
UTSW |
5 |
135,999,170 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
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'- CATTCCCTGGGCTAATTTGTTG -3'
(R):5'- TCCTACCTTAGGTTGGCAGG -3'
Sequencing Primer
(F):5'- TCAGGCAGGCCTTGAAGTTAC -3'
(R):5'- ACCTTAGGTTGGCAGGTCTTTGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation