Incidental Mutation 'IGL02821:Ssc4d'
ID361033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssc4d
Ensembl Gene ENSMUSG00000029699
Gene Namescavenger receptor cysteine rich family, 4 domains
SynonymsC330016E03Rik, Srcrb4d
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.295) question?
Stock #IGL02821
Quality Score
Status
Chromosome5
Chromosomal Location135960211-135974531 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 135966069 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000054895] [ENSMUST00000111150] [ENSMUST00000111152] [ENSMUST00000111153] [ENSMUST00000153823] [ENSMUST00000154181]
Predicted Effect probably benign
Transcript: ENSMUST00000054895
SMART Domains Protein: ENSMUSP00000050439
Gene: ENSMUSG00000029699

DomainStartEndE-ValueType
SR 32 132 1.99e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111150
SMART Domains Protein: ENSMUSP00000106780
Gene: ENSMUSG00000029699

DomainStartEndE-ValueType
SR 6 106 1.99e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111152
SMART Domains Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cd177 A T 7: 24,744,393 L760Q probably damaging Het
Cd177 G T 7: 24,744,394 L760M probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Kcnn3 G A 3: 89,662,722 G614D possibly damaging Het
Kcnn3 A G 3: 89,520,974 N169S possibly damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Slc46a3 G A 5: 147,886,012 T340M probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trav12-1 A G 14: 53,538,459 D22G probably damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Ubqln4 A G 3: 88,563,151 N310S probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Ssc4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Ssc4d APN 5 135967963 missense probably damaging 1.00
IGL02585:Ssc4d APN 5 135970338 missense possibly damaging 0.74
IGL03343:Ssc4d APN 5 135961174 nonsense probably null
R2051:Ssc4d UTSW 5 135970264 missense probably benign 0.00
R2069:Ssc4d UTSW 5 135970317 missense possibly damaging 0.50
R2508:Ssc4d UTSW 5 135965607 missense probably damaging 1.00
R2901:Ssc4d UTSW 5 135964663 missense possibly damaging 0.57
R2902:Ssc4d UTSW 5 135964663 missense possibly damaging 0.57
R2939:Ssc4d UTSW 5 135965724 missense possibly damaging 0.61
R3081:Ssc4d UTSW 5 135965724 missense possibly damaging 0.61
R4038:Ssc4d UTSW 5 135970316 missense possibly damaging 0.50
R4181:Ssc4d UTSW 5 135961924 missense possibly damaging 0.85
R4590:Ssc4d UTSW 5 135964684 missense probably benign 0.00
R4771:Ssc4d UTSW 5 135970220 missense probably damaging 1.00
R5411:Ssc4d UTSW 5 135963400 missense probably benign 0.40
R5583:Ssc4d UTSW 5 135970196 missense probably damaging 0.99
R5662:Ssc4d UTSW 5 135960894 makesense probably null
R5681:Ssc4d UTSW 5 135970220 missense probably damaging 1.00
R6357:Ssc4d UTSW 5 135966096 missense probably benign 0.00
R6962:Ssc4d UTSW 5 135962921 critical splice donor site probably null
Posted On2015-12-18