Incidental Mutation 'IGL02821:Ssc4d'
| ID |
361033 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ssc4d
|
| Ensembl Gene |
ENSMUSG00000029699 |
| Gene Name |
scavenger receptor cysteine rich family, 4 domains |
| Synonyms |
Srcrb4d, C330016E03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
IGL02821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135989074-136003389 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 135994923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
| Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
| Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
| Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,714,017 (GRCm39) |
E5G |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
| Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
| Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
| Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
| Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
| Evc |
T |
A |
5: 37,483,740 (GRCm39) |
I187F |
probably benign |
Het |
| Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
| Hps4 |
G |
T |
5: 112,523,307 (GRCm39) |
M608I |
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
| Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
| Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
| Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
| Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
| Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
| Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
| Trps1 |
G |
A |
15: 50,524,273 (GRCm39) |
T969M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
| Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation