Incidental Mutation 'R4771:Ssc4d'
ID 367488
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) question?
Stock # R4771 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135989074-136003389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135999074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000123008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111152] [ENSMUST00000111153] [ENSMUST00000153823] [ENSMUST00000154181]
AlphaFold A1L0T3
Predicted Effect probably damaging
Transcript: ENSMUST00000111152
AA Change: L43P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: L43P

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 damaging
Transcript: ENSMUST00000111153
AA Change: L43P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: L43P

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 damaging
Transcript: ENSMUST00000154181
AA Change: L43P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123008
Gene: ENSMUSG00000029699
AA Change: L43P

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 111 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 125,366,300 (GRCm39) T148A probably benign Het
Abcc4 G T 14: 118,721,796 (GRCm39) N1234K probably benign Het
Adamts20 C T 15: 94,249,516 (GRCm39) probably null Het
Aqp9 C T 9: 71,030,152 (GRCm39) G212S probably damaging Het
Asb15 A T 6: 24,570,621 (GRCm39) N533I probably damaging Het
Brwd1 A G 16: 95,804,518 (GRCm39) V1884A probably benign Het
Ccdc106 G A 7: 5,060,521 (GRCm39) probably null Het
Cfap46 A T 7: 139,210,524 (GRCm39) L1774Q probably null Het
Cfap95 A G 19: 23,536,337 (GRCm39) L190P probably damaging Het
Cibar1 T A 4: 12,155,689 (GRCm39) Q311L probably benign Het
Clec2h G A 6: 128,651,118 (GRCm39) E133K probably damaging Het
Cntn1 T A 15: 92,202,972 (GRCm39) F751L possibly damaging Het
Col20a1 A T 2: 180,630,917 (GRCm39) M62L probably benign Het
Col7a1 T C 9: 108,800,993 (GRCm39) V1899A probably damaging Het
Cpa5 T A 6: 30,612,684 (GRCm39) L28* probably null Het
Crb1 T A 1: 139,255,942 (GRCm39) E264D probably damaging Het
Creb3l2 A T 6: 37,311,512 (GRCm39) S426T probably benign Het
Cspg5 T A 9: 110,080,195 (GRCm39) N373K probably damaging Het
Ctso T C 3: 81,840,047 (GRCm39) S26P probably benign Het
Depdc1b A C 13: 108,519,434 (GRCm39) D348A probably benign Het
Diaph1 A T 18: 37,986,604 (GRCm39) M1127K probably damaging Het
Dlgap1 A T 17: 70,900,375 (GRCm39) K397* probably null Het
Dock3 T A 9: 106,829,557 (GRCm39) H1119L possibly damaging Het
Dok4 G T 8: 95,591,795 (GRCm39) probably null Het
Dram2 A G 3: 106,480,361 (GRCm39) T225A probably damaging Het
Dst G A 1: 34,288,565 (GRCm39) R5603H probably damaging Het
Ehbp1l1 A G 19: 5,775,996 (GRCm39) F18S probably damaging Het
Epha5 A G 5: 84,298,278 (GRCm39) V427A probably damaging Het
Exoc4 A T 6: 33,418,884 (GRCm39) probably null Het
Exph5 C T 9: 53,284,965 (GRCm39) T682I possibly damaging Het
Fnbp1l A T 3: 122,351,752 (GRCm39) S264T possibly damaging Het
Ggnbp2 A T 11: 84,725,314 (GRCm39) D580E probably benign Het
Gm10277 G A 11: 77,676,534 (GRCm39) probably benign Het
Golm2 T A 2: 121,756,126 (GRCm39) V352E probably damaging Het
Gtf2a1l C A 17: 88,997,448 (GRCm39) P93Q probably benign Het
Hydin A T 8: 111,259,515 (GRCm39) I2496F probably benign Het
Ighv7-2 A C 12: 113,876,087 (GRCm39) I6S probably benign Het
Irs1 A G 1: 82,265,696 (GRCm39) V840A probably benign Het
Itgal A G 7: 126,927,405 (GRCm39) E965G probably damaging Het
Izumo1 T G 7: 45,272,233 (GRCm39) F5V probably benign Het
Izumo1 T A 7: 45,272,234 (GRCm39) F5Y probably damaging Het
Kif13a A G 13: 46,978,687 (GRCm39) S175P probably damaging Het
Klf14 A G 6: 30,934,960 (GRCm39) F225L probably damaging Het
Kpna1 T C 16: 35,853,773 (GRCm39) Y468H probably damaging Het
Krt5 T A 15: 101,617,494 (GRCm39) Q413L probably damaging Het
Lbr T C 1: 181,665,986 (GRCm39) Y41C probably damaging Het
Lmcd1 A T 6: 112,292,834 (GRCm39) N229Y probably damaging Het
Marchf3 T A 18: 56,916,170 (GRCm39) H175L probably benign Het
Mcmbp A G 7: 128,300,124 (GRCm39) probably null Het
Med27 T A 2: 29,303,515 (GRCm39) L16Q probably damaging Het
Mex3b A T 7: 82,518,273 (GRCm39) Q196L possibly damaging Het
Mga T C 2: 119,794,775 (GRCm39) S2820P probably damaging Het
Mroh2a C T 1: 88,179,087 (GRCm39) L1104F probably damaging Het
Mta3 A G 17: 84,063,103 (GRCm39) E166G probably damaging Het
Mthfd2l A G 5: 91,096,727 (GRCm39) E116G possibly damaging Het
Musk A G 4: 58,301,706 (GRCm39) I155V probably benign Het
Myh7b G A 2: 155,468,314 (GRCm39) W834* probably null Het
Myo18b T A 5: 112,840,093 (GRCm39) R2567* probably null Het
Nars2 A T 7: 96,684,452 (GRCm39) E325V probably damaging Het
Nploc4 A G 11: 120,312,260 (GRCm39) V106A possibly damaging Het
Nudcd1 A T 15: 44,268,878 (GRCm39) S167R probably damaging Het
Nup133 T A 8: 124,656,137 (GRCm39) D448V probably damaging Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or5p70 A T 7: 107,995,229 (GRCm39) K301* probably null Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdh8 C T 14: 80,005,710 (GRCm39) A893T possibly damaging Het
Per3 A T 4: 151,093,716 (GRCm39) V1033E probably damaging Het
Polr1e T C 4: 45,019,282 (GRCm39) S44P probably damaging Het
Pou4f2 T A 8: 79,161,865 (GRCm39) H246L possibly damaging Het
Psmd2 G A 16: 20,481,429 (GRCm39) R828Q probably damaging Het
Ptprq A G 10: 107,524,288 (GRCm39) S482P probably benign Het
Rbm14 G T 19: 4,852,671 (GRCm39) probably benign Het
Reln T C 5: 22,254,698 (GRCm39) D557G probably damaging Het
Rhobtb2 A G 14: 70,034,499 (GRCm39) I242T probably benign Het
Runx1 C A 16: 92,492,629 (GRCm39) V5L possibly damaging Het
Shld2 G A 14: 33,990,663 (GRCm39) T81M probably damaging Het
Slc13a1 A T 6: 24,100,339 (GRCm39) Y381* probably null Het
Smyd3 A T 1: 178,921,961 (GRCm39) C180S probably damaging Het
Sntg2 T A 12: 30,326,658 (GRCm39) probably null Het
Snx19 G A 9: 30,344,934 (GRCm39) V678I probably damaging Het
Spag5 G A 11: 78,195,592 (GRCm39) A300T probably damaging Het
Spdl1 T A 11: 34,704,154 (GRCm39) R560W probably damaging Het
Spen T C 4: 141,199,907 (GRCm39) T2884A probably benign Het
Spg11 G A 2: 121,895,963 (GRCm39) Q1752* probably null Het
Srrm4 C A 5: 116,613,234 (GRCm39) probably null Het
Sspo A G 6: 48,437,813 (GRCm39) D1324G probably damaging Het
Tkt T G 14: 30,288,982 (GRCm39) I238S probably damaging Het
Tmem184b A T 15: 79,261,377 (GRCm39) N76K probably benign Het
Trpm6 A G 19: 18,790,857 (GRCm39) M631V probably damaging Het
Ttll6 A C 11: 96,024,655 (GRCm39) E15A possibly damaging Het
Ttn T C 2: 76,569,296 (GRCm39) D27199G probably damaging Het
Ubn2 A T 6: 38,464,088 (GRCm39) probably null Het
Ubr5 A C 15: 38,018,541 (GRCm39) I866M possibly damaging Het
Urb1 T C 16: 90,550,406 (GRCm39) T2149A probably benign Het
Ush2a G T 1: 188,529,966 (GRCm39) V3252L possibly damaging Het
Usp24 A G 4: 106,219,377 (GRCm39) probably null Het
Vill T A 9: 118,897,502 (GRCm39) M259K probably damaging Het
Vldlr T C 19: 27,217,290 (GRCm39) I411T probably damaging Het
Vmn2r120 A T 17: 57,831,887 (GRCm39) W301R probably damaging Het
Vps13b G A 15: 35,910,946 (GRCm39) S3570N probably damaging Het
Vps13c T C 9: 67,836,821 (GRCm39) V1773A probably benign Het
Vtn A G 11: 78,392,400 (GRCm39) D326G probably benign Het
Wdr93 A T 7: 79,426,511 (GRCm39) H592L probably damaging Het
Zdhhc19 A G 16: 32,317,953 (GRCm39) D94G probably damaging Het
Zfand4 A T 6: 116,291,311 (GRCm39) E188V probably damaging Het
Zfp523 C A 17: 28,420,312 (GRCm39) probably null Het
Zfp536 T C 7: 37,268,309 (GRCm39) D369G probably damaging Het
Zfp608 T A 18: 55,121,372 (GRCm39) T72S probably benign Het
Zfp804a T A 2: 82,088,286 (GRCm39) V705E probably benign Het
Zfp974 T C 7: 27,625,733 (GRCm39) T46A probably damaging Het
Zkscan4 C T 13: 21,663,416 (GRCm39) Q52* probably null Het
Other mutations in Ssc4d
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGGCTCACATCACTACTCCTGG -3'
(R):5'- TGAGTCACAGATGTTCCAGC -3'

Sequencing Primer
(F):5'- TCTAAGACAGGGTCTCATGTAGCC -3'
(R):5'- AGATGTTCCAGCTGTGACTTC -3'
Posted On 2015-12-29