Incidental Mutation 'R2007:Ssc5d'
ID 222491
Institutional Source Beutler Lab
Gene Symbol Ssc5d
Ensembl Gene ENSMUSG00000035279
Gene Name scavenger receptor cysteine rich family, 5 domains
Synonyms A430110N23Rik, s5d-srcrb
MMRRC Submission 040016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2007 (G1)
Quality Score 169
Status Validated
Chromosome 7
Chromosomal Location 4928820-4947827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 4931628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 278 (C278W)
Ref Sequence ENSEMBL: ENSMUSP00000052126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]
AlphaFold Q8BV57
Predicted Effect probably benign
Transcript: ENSMUST00000047309
SMART Domains Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
Pfam:Acetyltransf_1 101 186 4.1e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057612
AA Change: C278W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279
AA Change: C278W

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SR 20 120 4.44e-49 SMART
low complexity region 141 155 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
SR 199 299 2.36e-53 SMART
SR 305 405 8.22e-53 SMART
low complexity region 437 462 N/A INTRINSIC
SR 464 565 1.11e-49 SMART
low complexity region 741 755 N/A INTRINSIC
SR 758 858 3.93e-50 SMART
low complexity region 936 957 N/A INTRINSIC
low complexity region 981 1004 N/A INTRINSIC
low complexity region 1018 1035 N/A INTRINSIC
low complexity region 1218 1230 N/A INTRINSIC
low complexity region 1357 1364 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207506
Predicted Effect probably benign
Transcript: ENSMUST00000207527
Predicted Effect probably benign
Transcript: ENSMUST00000207687
Predicted Effect probably benign
Transcript: ENSMUST00000208754
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (66/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,519,855 (GRCm39) N1387K probably benign Het
Abca13 T C 11: 9,141,987 (GRCm39) F8L probably benign Het
Abcg5 G T 17: 84,977,348 (GRCm39) L270M probably damaging Het
Acad10 A G 5: 121,772,814 (GRCm39) L489S probably damaging Het
Acsf2 G A 11: 94,462,466 (GRCm39) T183I possibly damaging Het
Adamts7 A T 9: 90,059,909 (GRCm39) E282V probably damaging Het
Adcy4 C T 14: 56,015,770 (GRCm39) G440R possibly damaging Het
AI429214 G A 8: 37,460,923 (GRCm39) V24I probably benign Het
Angptl3 T C 4: 98,925,634 (GRCm39) I320T probably damaging Het
Apoa5 A T 9: 46,181,665 (GRCm39) Q247L possibly damaging Het
Astn1 T G 1: 158,436,875 (GRCm39) V811G probably damaging Het
Bard1 C T 1: 71,070,562 (GRCm39) V641I probably benign Het
Calb2 T C 8: 110,894,702 (GRCm39) E23G probably benign Het
Cdkl4 A G 17: 80,863,730 (GRCm39) probably benign Het
Cep85l A G 10: 53,154,171 (GRCm39) probably benign Het
Cfap91 T C 16: 38,118,616 (GRCm39) I728V probably benign Het
Chd1 G T 17: 15,951,268 (GRCm39) G281V probably damaging Het
Col17a1 C T 19: 47,656,141 (GRCm39) G586E probably damaging Het
Cpne3 T A 4: 19,553,833 (GRCm39) D66V probably damaging Het
Csde1 A T 3: 102,952,107 (GRCm39) I204L probably damaging Het
Dchs1 A T 7: 105,404,532 (GRCm39) V2670E probably damaging Het
Ddx10 A G 9: 53,124,578 (GRCm39) V428A probably benign Het
Dgkh T A 14: 78,840,489 (GRCm39) D530V probably benign Het
Dis3l A T 9: 64,215,558 (GRCm39) probably null Het
Dst T G 1: 34,265,093 (GRCm39) probably benign Het
Eml6 C T 11: 29,798,814 (GRCm39) probably null Het
En1 A T 1: 120,531,133 (GRCm39) E124D probably benign Het
Exo1 G A 1: 175,736,096 (GRCm39) E827K probably damaging Het
Fktn T C 4: 53,735,099 (GRCm39) F246L possibly damaging Het
Fndc1 G A 17: 7,997,580 (GRCm39) probably benign Het
Foxp2 G A 6: 15,396,818 (GRCm39) C381Y probably damaging Het
Galnt6 A T 15: 100,595,047 (GRCm39) Y485N probably damaging Het
Gemin4 G A 11: 76,103,444 (GRCm39) A439V possibly damaging Het
Gpatch8 A G 11: 102,391,657 (GRCm39) I155T unknown Het
Hmcn2 A G 2: 31,328,267 (GRCm39) D4316G possibly damaging Het
Hnrnpr T A 4: 136,046,824 (GRCm39) probably benign Het
Hpx G A 7: 105,244,781 (GRCm39) R135C probably damaging Het
Khdrbs2 T G 1: 32,559,629 (GRCm39) E151A probably benign Het
Krt6b A T 15: 101,586,562 (GRCm39) L309H probably damaging Het
Lce1c G T 3: 92,587,765 (GRCm39) C64F unknown Het
Marchf6 C T 15: 31,462,087 (GRCm39) probably null Het
Myt1 C A 2: 181,437,552 (GRCm39) R88S probably benign Het
Nemp1 A G 10: 127,529,446 (GRCm39) S194G probably benign Het
Nphp4 A G 4: 152,639,111 (GRCm39) K914R probably damaging Het
Or3a1 T A 11: 74,225,212 (GRCm39) T282S possibly damaging Het
Osbp T C 19: 11,951,265 (GRCm39) M270T probably benign Het
Parg T C 14: 31,932,531 (GRCm39) M457T possibly damaging Het
Phf20 T C 2: 156,129,874 (GRCm39) M482T probably benign Het
Pik3c2a G A 7: 115,941,472 (GRCm39) T1598I probably damaging Het
Pkd1 T C 17: 24,798,759 (GRCm39) M2689T probably damaging Het
Plxnd1 A T 6: 115,944,216 (GRCm39) V1091E probably damaging Het
Ptcd2 A T 13: 99,456,744 (GRCm39) L360Q probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Serpinc1 A T 1: 160,821,110 (GRCm39) T65S probably benign Het
Sipa1l2 G A 8: 126,166,176 (GRCm39) T1486I probably damaging Het
Snrnp200 T C 2: 127,068,968 (GRCm39) L949P probably damaging Het
Tbc1d14 T G 5: 36,728,718 (GRCm39) H216P possibly damaging Het
Tmem183a A G 1: 134,277,861 (GRCm39) F301S probably damaging Het
Tmem233 A C 5: 116,189,496 (GRCm39) N94K possibly damaging Het
Tmprss13 A G 9: 45,243,843 (GRCm39) D193G probably damaging Het
Tprkb T C 6: 85,910,030 (GRCm39) probably benign Het
Tram1l1 A G 3: 124,115,488 (GRCm39) H216R possibly damaging Het
Ttn A G 2: 76,564,484 (GRCm39) V28551A probably damaging Het
Ubtfl1 A G 9: 18,320,547 (GRCm39) N25S possibly damaging Het
Unc80 C A 1: 66,542,935 (GRCm39) N396K probably damaging Het
Vmn1r171 T C 7: 23,332,012 (GRCm39) L79P probably damaging Het
Vmn2r115 G T 17: 23,566,927 (GRCm39) V480F possibly damaging Het
Xpo4 T C 14: 57,824,101 (GRCm39) I995V probably null Het
Other mutations in Ssc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Ssc5d APN 7 4,947,480 (GRCm39) missense possibly damaging 0.63
IGL00939:Ssc5d APN 7 4,939,280 (GRCm39) missense possibly damaging 0.89
IGL01109:Ssc5d APN 7 4,940,111 (GRCm39) nonsense probably null
IGL01409:Ssc5d APN 7 4,945,808 (GRCm39) missense probably benign 0.16
IGL01880:Ssc5d APN 7 4,936,218 (GRCm39) missense probably damaging 1.00
IGL02013:Ssc5d APN 7 4,946,835 (GRCm39) missense probably benign 0.00
IGL02227:Ssc5d APN 7 4,936,453 (GRCm39) critical splice donor site probably null
IGL02963:Ssc5d APN 7 4,947,326 (GRCm39) missense probably benign 0.02
D4043:Ssc5d UTSW 7 4,946,982 (GRCm39) missense possibly damaging 0.70
D4216:Ssc5d UTSW 7 4,946,982 (GRCm39) missense possibly damaging 0.70
R0104:Ssc5d UTSW 7 4,939,285 (GRCm39) missense probably benign 0.41
R0115:Ssc5d UTSW 7 4,930,880 (GRCm39) unclassified probably benign
R0201:Ssc5d UTSW 7 4,947,662 (GRCm39) missense probably benign
R0365:Ssc5d UTSW 7 4,931,466 (GRCm39) nonsense probably null
R0485:Ssc5d UTSW 7 4,940,470 (GRCm39) missense probably damaging 0.99
R0967:Ssc5d UTSW 7 4,947,342 (GRCm39) nonsense probably null
R1607:Ssc5d UTSW 7 4,947,042 (GRCm39) missense probably benign 0.25
R1639:Ssc5d UTSW 7 4,931,416 (GRCm39) missense probably damaging 1.00
R1801:Ssc5d UTSW 7 4,939,606 (GRCm39) missense probably benign 0.05
R1867:Ssc5d UTSW 7 4,931,506 (GRCm39) missense probably damaging 1.00
R1999:Ssc5d UTSW 7 4,945,713 (GRCm39) missense possibly damaging 0.86
R2084:Ssc5d UTSW 7 4,940,011 (GRCm39) missense probably benign 0.01
R2234:Ssc5d UTSW 7 4,946,849 (GRCm39) missense probably benign
R2259:Ssc5d UTSW 7 4,946,915 (GRCm39) missense probably benign 0.01
R2567:Ssc5d UTSW 7 4,939,334 (GRCm39) missense probably damaging 1.00
R2879:Ssc5d UTSW 7 4,939,906 (GRCm39) critical splice acceptor site probably null
R3782:Ssc5d UTSW 7 4,945,790 (GRCm39) missense probably benign 0.00
R3875:Ssc5d UTSW 7 4,930,261 (GRCm39) missense probably damaging 1.00
R4322:Ssc5d UTSW 7 4,931,449 (GRCm39) missense probably damaging 1.00
R4331:Ssc5d UTSW 7 4,945,725 (GRCm39) missense probably benign 0.00
R4334:Ssc5d UTSW 7 4,946,663 (GRCm39) missense probably benign
R4430:Ssc5d UTSW 7 4,946,663 (GRCm39) missense probably benign
R4619:Ssc5d UTSW 7 4,932,524 (GRCm39) missense probably damaging 1.00
R4794:Ssc5d UTSW 7 4,946,744 (GRCm39) missense probably benign
R5106:Ssc5d UTSW 7 4,939,664 (GRCm39) missense probably benign 0.31
R5174:Ssc5d UTSW 7 4,930,970 (GRCm39) missense possibly damaging 0.83
R5553:Ssc5d UTSW 7 4,939,289 (GRCm39) missense probably damaging 1.00
R5649:Ssc5d UTSW 7 4,929,517 (GRCm39) critical splice donor site probably null
R5786:Ssc5d UTSW 7 4,939,817 (GRCm39) missense probably benign 0.00
R6059:Ssc5d UTSW 7 4,945,743 (GRCm39) missense possibly damaging 0.86
R6163:Ssc5d UTSW 7 4,930,253 (GRCm39) missense probably damaging 1.00
R6332:Ssc5d UTSW 7 4,940,521 (GRCm39) missense probably damaging 1.00
R6341:Ssc5d UTSW 7 4,939,664 (GRCm39) missense probably benign 0.31
R6613:Ssc5d UTSW 7 4,936,292 (GRCm39) missense possibly damaging 0.82
R7180:Ssc5d UTSW 7 4,939,600 (GRCm39) missense probably benign 0.17
R7576:Ssc5d UTSW 7 4,931,572 (GRCm39) missense probably damaging 1.00
R7602:Ssc5d UTSW 7 4,945,745 (GRCm39) missense possibly damaging 0.95
R7609:Ssc5d UTSW 7 4,930,575 (GRCm39) missense possibly damaging 0.56
R7691:Ssc5d UTSW 7 4,947,168 (GRCm39) missense probably benign 0.29
R7759:Ssc5d UTSW 7 4,940,529 (GRCm39) nonsense probably null
R8480:Ssc5d UTSW 7 4,939,328 (GRCm39) missense probably damaging 1.00
R9029:Ssc5d UTSW 7 4,930,919 (GRCm39) missense probably damaging 0.97
R9163:Ssc5d UTSW 7 4,936,432 (GRCm39) missense probably damaging 1.00
R9178:Ssc5d UTSW 7 4,930,058 (GRCm39) missense probably damaging 1.00
R9181:Ssc5d UTSW 7 4,945,814 (GRCm39) missense possibly damaging 0.86
R9382:Ssc5d UTSW 7 4,930,283 (GRCm39) critical splice donor site probably null
R9489:Ssc5d UTSW 7 4,940,599 (GRCm39) missense probably benign 0.02
R9626:Ssc5d UTSW 7 4,946,568 (GRCm39) missense probably benign
R9630:Ssc5d UTSW 7 4,939,426 (GRCm39) missense probably damaging 1.00
R9776:Ssc5d UTSW 7 4,932,367 (GRCm39) missense probably benign 0.07
X0063:Ssc5d UTSW 7 4,939,286 (GRCm39) missense probably damaging 1.00
Z1088:Ssc5d UTSW 7 4,931,433 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCCTCCAAGCTGACATTAG -3'
(R):5'- TGTGTAGAGAGACAGACCCG -3'

Sequencing Primer
(F):5'- GCTGACATTAGACTAAGCCTTTTAC -3'
(R):5'- AGGCCTTTTACTGCTTCCTGGG -3'
Posted On 2014-08-25