Incidental Mutation 'R6327:Rcsd1'
ID510456
Institutional Source Beutler Lab
Gene Symbol Rcsd1
Ensembl Gene ENSMUSG00000040723
Gene NameRCSD domain containing 1
SynonymsA430105K13Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R6327 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location165646516-165709757 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 165655834 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 196 (D196V)
Ref Sequence ENSEMBL: ENSMUSP00000095082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040357] [ENSMUST00000097474]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040357
AA Change: D226V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043724
Gene: ENSMUSG00000040723
AA Change: D226V

DomainStartEndE-ValueType
Pfam:CAP-ZIP_m 76 207 6.7e-25 PFAM
Pfam:RCSD 230 329 1.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097474
AA Change: D196V

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095082
Gene: ENSMUSG00000040723
AA Change: D196V

DomainStartEndE-ValueType
Pfam:CAP-ZIP_m 45 174 3.1e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,558,692 probably null Het
Birc6 C A 17: 74,662,779 H383Q probably damaging Het
C2 C A 17: 34,864,103 A431S probably benign Het
C3ar1 C T 6: 122,850,146 V371M probably damaging Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Ckap2l A G 2: 129,285,494 S255P probably damaging Het
Clca3a1 T A 3: 144,730,797 I842F probably benign Het
Cmc2 G T 8: 116,894,157 H28Q probably damaging Het
Col11a2 C T 17: 34,043,317 P176L probably benign Het
Csmd3 T C 15: 47,881,387 D1404G probably damaging Het
Dld G A 12: 31,332,191 P506S probably benign Het
Dsg3 T C 18: 20,539,870 M866T probably benign Het
Ehd1 T C 19: 6,298,345 I451T possibly damaging Het
Fosb T C 7: 19,307,227 T114A probably benign Het
Foxd4 T A 19: 24,900,834 M1L possibly damaging Het
Fstl5 T A 3: 76,707,801 I723N probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Hdlbp A G 1: 93,429,464 S299P possibly damaging Het
Mast4 G A 13: 102,761,382 R650C probably damaging Het
Micu3 A G 8: 40,366,197 T306A probably benign Het
Mylk2 A G 2: 152,913,693 Q259R possibly damaging Het
Nfkbiz T C 16: 55,821,962 N31S probably damaging Het
Nisch A T 14: 31,171,487 probably benign Het
Nudt17 T C 3: 96,707,764 probably benign Het
Olfr1389 A C 11: 49,431,001 H175P probably damaging Het
Olfr292 T C 7: 86,694,552 V32A probably benign Het
Olfr541 T C 7: 140,704,703 W151R probably damaging Het
Oprm1 A C 10: 6,830,063 I242L probably damaging Het
Otud6b A G 4: 14,826,496 probably benign Het
Pamr1 A T 2: 102,642,174 D606V probably damaging Het
Pcf11 T C 7: 92,659,609 probably benign Het
Pom121l2 T C 13: 21,982,332 S258P probably damaging Het
Sbf2 C T 7: 110,441,552 R356Q probably damaging Het
Serpinf1 A G 11: 75,413,905 probably null Het
Slc22a30 T G 19: 8,335,722 probably benign Het
Strn4 G T 7: 16,816,459 S36I probably benign Het
Taar6 A G 10: 23,985,279 L123P probably damaging Het
Thbs1 G T 2: 118,112,656 R5L unknown Het
Timp3 T C 10: 86,345,786 Y174H probably benign Het
Trpm2 C T 10: 77,932,227 V813M probably damaging Het
Uox C T 3: 146,624,577 R163* probably null Het
Vcan A T 13: 89,704,832 S670T probably damaging Het
Vmn1r65 A T 7: 6,008,652 N194K possibly damaging Het
Other mutations in Rcsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02160:Rcsd1 APN 1 165657579 missense probably damaging 1.00
P0028:Rcsd1 UTSW 1 165655997 missense probably damaging 1.00
R1791:Rcsd1 UTSW 1 165655972 missense probably damaging 1.00
R1898:Rcsd1 UTSW 1 165659429 missense probably benign 0.14
R2260:Rcsd1 UTSW 1 165659429 missense probably benign 0.14
R2280:Rcsd1 UTSW 1 165659429 missense probably benign 0.14
R4427:Rcsd1 UTSW 1 165655895 missense probably damaging 0.99
R4679:Rcsd1 UTSW 1 165655924 missense probably damaging 1.00
R5327:Rcsd1 UTSW 1 165655303 critical splice donor site probably null
R5560:Rcsd1 UTSW 1 165655501 missense possibly damaging 0.79
R6436:Rcsd1 UTSW 1 165657615 missense probably damaging 1.00
R7267:Rcsd1 UTSW 1 165663616 missense probably damaging 1.00
R7682:Rcsd1 UTSW 1 165657693 missense probably benign 0.41
R8043:Rcsd1 UTSW 1 165655342 missense probably benign 0.03
Y4337:Rcsd1 UTSW 1 165655684 missense possibly damaging 0.74
Z1177:Rcsd1 UTSW 1 165655744 missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGTGTCTGTATGCTCTCCCG -3'
(R):5'- TTCTTCCAGGTGCGGACTAGAG -3'

Sequencing Primer
(F):5'- ATGCTCTCCCGGGGTTGTC -3'
(R):5'- TAGAGGCTCAATAAAAAGACGTCCTC -3'
Posted On2018-04-02