Incidental Mutation 'R2902:Ssc4d'
ID |
261498 |
Institutional Source |
Beutler Lab
|
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: 0.170)
|
Stock # |
R2902 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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 |
Apobec2 |
T |
C |
17: 48,730,409 (GRCm39) |
T86A |
probably benign |
Het |
C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
Cacng3 |
A |
G |
7: 122,353,750 (GRCm39) |
K78R |
possibly damaging |
Het |
Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,302 (GRCm39) |
K237E |
probably benign |
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 |
Cyp4f18 |
A |
T |
8: 72,756,255 (GRCm39) |
I107N |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,225,467 (GRCm39) |
L899P |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,550,722 (GRCm39) |
K3199R |
possibly damaging |
Het |
Ecpas |
G |
A |
4: 58,809,691 (GRCm39) |
T1592M |
probably benign |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Fam186a |
G |
T |
15: 99,843,049 (GRCm39) |
T1065K |
possibly damaging |
Het |
Ferd3l |
T |
G |
12: 33,978,952 (GRCm39) |
M155R |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,243,729 (GRCm39) |
Y602H |
probably damaging |
Het |
Gldn |
T |
C |
9: 54,243,098 (GRCm39) |
L360P |
possibly damaging |
Het |
Gm9920 |
C |
A |
15: 54,975,867 (GRCm39) |
|
probably benign |
Het |
Inhbc |
T |
C |
10: 127,193,621 (GRCm39) |
T132A |
probably benign |
Het |
Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
Lrch3 |
G |
A |
16: 32,770,766 (GRCm39) |
A123T |
probably damaging |
Het |
Mark2 |
A |
T |
19: 7,260,813 (GRCm39) |
S408T |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,402,091 (GRCm39) |
I912F |
probably damaging |
Het |
Nxpe4 |
A |
G |
9: 48,305,446 (GRCm39) |
I279V |
probably benign |
Het |
Oas3 |
A |
G |
5: 120,896,982 (GRCm39) |
F880L |
probably damaging |
Het |
Or5ak23 |
C |
T |
2: 85,244,396 (GRCm39) |
V276M |
possibly damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,289,337 (GRCm39) |
N53K |
possibly damaging |
Het |
Pcnt |
C |
T |
10: 76,211,064 (GRCm39) |
R2371H |
probably damaging |
Het |
Prex2 |
A |
T |
1: 11,278,838 (GRCm39) |
N1389I |
possibly damaging |
Het |
Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
Prr12 |
C |
T |
7: 44,697,036 (GRCm39) |
G960R |
unknown |
Het |
Rap1b |
A |
G |
10: 117,660,507 (GRCm39) |
S17P |
probably damaging |
Het |
Rhot2 |
G |
T |
17: 26,062,950 (GRCm39) |
Q63K |
probably damaging |
Het |
Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,042,046 (GRCm39) |
L510P |
probably damaging |
Het |
Sv2a |
A |
T |
3: 96,101,072 (GRCm39) |
N690I |
possibly damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,426,220 (GRCm39) |
Y452C |
probably benign |
Het |
Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
Tmem82 |
C |
A |
4: 141,343,775 (GRCm39) |
G165V |
probably benign |
Het |
Tpo |
T |
A |
12: 30,169,448 (GRCm39) |
T96S |
possibly damaging |
Het |
Triobp |
A |
G |
15: 78,857,618 (GRCm39) |
E1073G |
possibly damaging |
Het |
Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
Usp47 |
A |
G |
7: 111,692,658 (GRCm39) |
Y1020C |
probably damaging |
Het |
Washc4 |
C |
A |
10: 83,390,627 (GRCm39) |
Y153* |
probably null |
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 |
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'- GTGTCATCTGCTGCCATCTG -3'
(R):5'- CAAATTAAAGGTCAGCATTGGAGC -3'
Sequencing Primer
(F):5'- ATCTGCTGCCATCTGCTCATC -3'
(R):5'- AGGCCTGCTGGTACATACTTACAG -3'
|
Posted On |
2015-01-23 |