Incidental Mutation 'R7360:Ssc4d'
ID |
571256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssc4d
|
Ensembl Gene |
ENSMUSG00000029699 |
Gene Name |
scavenger receptor cysteine rich family, 4 domains |
Synonyms |
Srcrb4d, C330016E03Rik |
MMRRC Submission |
045446-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R7360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
135989074-136003389 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 135994965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 184
(S184C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106782
(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 damaging
Transcript: ENSMUST00000111152
AA Change: S184C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106782 Gene: ENSMUSG00000029699 AA Change: S184C
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 damaging
Transcript: ENSMUST00000111153
AA Change: S184C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106783 Gene: ENSMUSG00000029699 AA Change: S184C
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 |
|
SMART Domains |
Protein: ENSMUSP00000117071 Gene: ENSMUSG00000029699 AA Change: S75C
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 |
0.2022 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (54/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
Aste1 |
G |
T |
9: 105,274,835 (GRCm39) |
M358I |
probably damaging |
Het |
B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
Dnaaf1 |
A |
G |
8: 120,304,090 (GRCm39) |
T43A |
probably benign |
Het |
Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
Gm1527 |
C |
T |
3: 28,968,691 (GRCm39) |
Q248* |
probably null |
Het |
Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,360,621 (GRCm39) |
D478G |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
Tspoap1 |
A |
G |
11: 87,669,347 (GRCm39) |
Y1540C |
probably benign |
Het |
Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
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 |
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 |
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 |
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'- CAGGGAAGGAACCATTTTCATC -3'
(R):5'- GGCCCTGAAATCACAGCATTC -3'
Sequencing Primer
(F):5'- TCTACTTAATCAATGCACCAGGTC -3'
(R):5'- TGAAATCACAGCATTCCGGAG -3'
|
Posted On |
2019-09-13 |