Incidental Mutation 'R2939:Ssc4d'
ID 264567
Institutional Source Beutler Lab
Gene Symbol Ssc4d
Ensembl Gene ENSMUSG00000029699
Gene Name scavenger receptor cysteine rich family, 4 domains
Synonyms Srcrb4d, C330016E03Rik
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R2939 (G1)
Quality Score 201
Status Validated
Chromosome 5
Chromosomal Location 135989074-136003389 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135994578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 51 (T51A)
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

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 possibly damaging
Transcript: ENSMUST00000111152
AA Change: T250A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106782
Gene: ENSMUSG00000029699
AA Change: T250A

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 possibly damaging
Transcript: ENSMUST00000111153
AA Change: T250A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106783
Gene: ENSMUSG00000029699
AA Change: T250A

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 possibly damaging
Transcript: ENSMUST00000153823
AA Change: T51A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122958
Gene: ENSMUSG00000029699
AA Change: T51A

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
Meta Mutation Damage Score 0.1103 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S possibly damaging 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
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'- AGATAGCCAACCCCTTTTCC -3'
(R):5'- ATCCACCATCACCAGGTGAG -3'

Sequencing Primer
(F):5'- TCCTTCCGAAGACCCCG -3'
(R):5'- CATCACCAGGTGAGGGCAGTG -3'
Posted On 2015-02-05