Incidental Mutation 'R7910:Spocd1'
ID 610419
Institutional Source Beutler Lab
Gene Symbol Spocd1
Ensembl Gene ENSMUSG00000028784
Gene Name SPOC domain containing 1
Synonyms OTTMUSG00000009522
MMRRC Submission 045959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7910 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 129823042-129850908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129823893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 230 (E230G)
Ref Sequence ENSEMBL: ENSMUSP00000081284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084263]
AlphaFold B1ASB6
Predicted Effect
SMART Domains Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: E230G

DomainStartEndE-ValueType
Pfam:TFIIS_M 1 105 1.7e-24 PFAM
Blast:PAC 123 163 4e-7 BLAST
Pfam:SPOC 247 350 1e-22 PFAM
low complexity region 454 467 N/A INTRINSIC
low complexity region 559 571 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A T 6: 65,930,289 (GRCm39) T175S probably benign Het
Abca13 A G 11: 9,531,590 (GRCm39) I4606V probably damaging Het
Abca3 G A 17: 24,604,827 (GRCm39) V645I probably benign Het
Abi3bp A T 16: 56,498,105 (GRCm39) R980* probably null Het
Acsl6 G T 11: 54,236,797 (GRCm39) G564* probably null Het
Alppl2 T C 1: 87,015,159 (GRCm39) E430G probably benign Het
Anks1b A G 10: 90,516,654 (GRCm39) Y883C probably damaging Het
Atp11b T C 3: 35,885,652 (GRCm39) F882L possibly damaging Het
Atrn T A 2: 130,806,807 (GRCm39) H609Q probably benign Het
Bcl2l13 A T 6: 120,842,646 (GRCm39) K113M possibly damaging Het
Brinp2 T A 1: 158,074,450 (GRCm39) N557I probably damaging Het
C4b A G 17: 34,959,326 (GRCm39) L416P probably benign Het
Ccdc125 T A 13: 100,819,327 (GRCm39) I163K possibly damaging Het
Ccdc136 T G 6: 29,420,033 (GRCm39) D1075E probably benign Het
Cdc45 T A 16: 18,629,203 (GRCm39) Y47F probably damaging Het
Cdk10 T C 8: 123,953,105 (GRCm39) V36A probably damaging Het
Ciz1 T A 2: 32,260,139 (GRCm39) probably null Het
Clasp1 T G 1: 118,530,144 (GRCm39) L1502* probably null Het
Crtc1 G T 8: 70,840,251 (GRCm39) Q541K probably benign Het
Ddx5 G T 11: 106,675,261 (GRCm39) T358N probably damaging Het
Ehbp1l1 A T 19: 5,766,452 (GRCm39) V1297E probably benign Het
Eif2d C A 1: 131,082,950 (GRCm39) T98K probably damaging Het
Ezh2 T C 6: 47,533,077 (GRCm39) D124G probably damaging Het
Gamt T G 10: 80,094,243 (GRCm39) I223L possibly damaging Het
Gbp7 T C 3: 142,240,402 (GRCm39) V40A probably damaging Het
Gm11992 A G 11: 8,999,165 (GRCm39) E7G probably damaging Het
Gml2 A G 15: 74,692,379 (GRCm39) probably null Het
Grem2 A G 1: 174,664,813 (GRCm39) V12A probably benign Het
Gsta1 T A 9: 78,139,577 (GRCm39) I19N probably damaging Het
Gstt2 T C 10: 75,667,736 (GRCm39) I240V probably benign Het
Hectd4 T C 5: 121,392,291 (GRCm39) L185S possibly damaging Het
Hsd3b7 G A 7: 127,400,419 (GRCm39) probably null Het
Ift22 T A 5: 136,940,638 (GRCm39) M101K probably benign Het
Irs1 A G 1: 82,267,802 (GRCm39) V138A probably benign Het
Ky A G 9: 102,419,141 (GRCm39) M383V possibly damaging Het
Lama4 A G 10: 38,946,005 (GRCm39) E796G probably damaging Het
Lcp2 A G 11: 34,038,061 (GRCm39) Y426C probably damaging Het
Lig3 A G 11: 82,688,601 (GRCm39) D755G probably damaging Het
Lrrc43 A G 5: 123,639,084 (GRCm39) D371G probably benign Het
Lrrc43 T A 5: 123,630,470 (GRCm39) I111N probably damaging Het
Lrrc74b C A 16: 17,376,213 (GRCm39) G146* probably null Het
Lrrfip1 A G 1: 91,047,874 (GRCm39) K479E possibly damaging Het
Lrriq1 C A 10: 103,051,055 (GRCm39) E566* probably null Het
Mlxipl C T 5: 135,161,263 (GRCm39) A394V possibly damaging Het
Myh14 T C 7: 44,281,819 (GRCm39) Y813C probably damaging Het
Nat10 T A 2: 103,555,490 (GRCm39) E943D probably benign Het
Nectin2 T A 7: 19,466,912 (GRCm39) K226* probably null Het
Nlrc5 T G 8: 95,219,720 (GRCm39) S1103R probably benign Het
Nr4a1 T A 15: 101,169,641 (GRCm39) Y304N probably damaging Het
Ntpcr T C 8: 126,474,483 (GRCm39) V184A probably benign Het
Or1j13 T A 2: 36,369,345 (GRCm39) N266Y probably damaging Het
Or5p73 T C 7: 108,064,978 (GRCm39) V149A probably benign Het
Or5t18 A G 2: 86,637,191 (GRCm39) S51P probably benign Het
Oxr1 A C 15: 41,517,030 (GRCm39) S65R possibly damaging Het
Pcdhb19 A T 18: 37,630,720 (GRCm39) I172L probably benign Het
Pds5a A T 5: 65,795,925 (GRCm39) I655N possibly damaging Het
Pik3cg T C 12: 32,250,516 (GRCm39) Y757C probably benign Het
Plekha5 C A 6: 140,472,184 (GRCm39) T37N possibly damaging Het
Ppp4r1 C T 17: 66,136,394 (GRCm39) A534V probably damaging Het
Ppp4r1 T A 17: 66,118,298 (GRCm39) F167I probably benign Het
Ppt2 T A 17: 34,846,300 (GRCm39) probably null Het
Prrt2 A T 7: 126,619,219 (GRCm39) V82D possibly damaging Het
Rassf5 T A 1: 131,108,366 (GRCm39) Y338F probably benign Het
Rbbp6 G A 7: 122,596,251 (GRCm39) V560I possibly damaging Het
Rcbtb1 T C 14: 59,474,127 (GRCm39) M90T unknown Het
Rif1 T A 2: 51,968,399 (GRCm39) L194* probably null Het
Rybp A T 6: 100,209,879 (GRCm39) I128K possibly damaging Het
Samm50 T G 15: 84,098,346 (GRCm39) F462V possibly damaging Het
Slain1 T C 14: 103,923,200 (GRCm39) Y264H probably damaging Het
Slc29a4 C T 5: 142,691,156 (GRCm39) P12L probably benign Het
Slc6a2 T C 8: 93,720,766 (GRCm39) I461T possibly damaging Het
Soat2 A G 15: 102,069,106 (GRCm39) D377G probably damaging Het
Tbc1d30 T A 10: 121,183,061 (GRCm39) K126* probably null Het
Tgfbi T A 13: 56,779,997 (GRCm39) F515L probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r206 G T 13: 22,804,471 (GRCm39) Y245* probably null Het
Vmn1r87 T A 7: 12,865,832 (GRCm39) S152C probably damaging Het
Zfc3h1 C A 10: 115,256,588 (GRCm39) Y1519* probably null Het
Zfp248 A T 6: 118,407,103 (GRCm39) L162H possibly damaging Het
Zfp804a T A 2: 82,086,917 (GRCm39) F249I probably damaging Het
Other mutations in Spocd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Spocd1 APN 4 129,847,380 (GRCm39) missense probably damaging 0.99
IGL02332:Spocd1 APN 4 129,842,885 (GRCm39) missense probably damaging 1.00
IGL02796:Spocd1 APN 4 129,841,548 (GRCm39) intron probably benign
R0005:Spocd1 UTSW 4 129,850,571 (GRCm39) missense possibly damaging 0.73
R0499:Spocd1 UTSW 4 129,849,263 (GRCm39) missense possibly damaging 0.56
R0939:Spocd1 UTSW 4 129,842,663 (GRCm39) missense possibly damaging 0.93
R1128:Spocd1 UTSW 4 129,850,599 (GRCm39) missense possibly damaging 0.57
R5747:Spocd1 UTSW 4 129,848,738 (GRCm39) missense probably damaging 1.00
R5774:Spocd1 UTSW 4 129,845,579 (GRCm39) missense probably benign 0.04
R5872:Spocd1 UTSW 4 129,850,254 (GRCm39) missense probably damaging 0.99
R5887:Spocd1 UTSW 4 129,842,752 (GRCm39) missense probably damaging 1.00
R6185:Spocd1 UTSW 4 129,850,242 (GRCm39) missense probably benign 0.02
R6198:Spocd1 UTSW 4 129,849,208 (GRCm39) missense probably damaging 1.00
R6245:Spocd1 UTSW 4 129,850,901 (GRCm39) splice site probably null
R6412:Spocd1 UTSW 4 129,847,365 (GRCm39) missense probably benign 0.44
R6804:Spocd1 UTSW 4 129,847,423 (GRCm39) nonsense probably null
R6884:Spocd1 UTSW 4 129,849,197 (GRCm39) unclassified probably benign
R6898:Spocd1 UTSW 4 129,850,305 (GRCm39) unclassified probably benign
R7090:Spocd1 UTSW 4 129,847,691 (GRCm39) missense
R7548:Spocd1 UTSW 4 129,823,602 (GRCm39) missense
R7570:Spocd1 UTSW 4 129,823,957 (GRCm39) missense
R7657:Spocd1 UTSW 4 129,823,535 (GRCm39) missense
R8141:Spocd1 UTSW 4 129,823,497 (GRCm39) missense
R8557:Spocd1 UTSW 4 129,842,761 (GRCm39) missense probably damaging 1.00
R8798:Spocd1 UTSW 4 129,823,997 (GRCm39) critical splice donor site probably null
R8886:Spocd1 UTSW 4 129,845,631 (GRCm39) missense
R9463:Spocd1 UTSW 4 129,847,398 (GRCm39) missense
R9633:Spocd1 UTSW 4 129,850,463 (GRCm39) missense unknown
R9730:Spocd1 UTSW 4 129,850,305 (GRCm39) unclassified probably benign
Z1177:Spocd1 UTSW 4 129,849,306 (GRCm39) missense unknown
Z1177:Spocd1 UTSW 4 129,823,770 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTGAGGATTCTACAGATCAGCAG -3'
(R):5'- AAGTCCGAGAGAAGACGCTC -3'

Sequencing Primer
(F):5'- TTCTACAGATCAGCAGGAAGTAC -3'
(R):5'- CAATAAGAGACACTGGAGTTTACTTC -3'
Posted On 2019-12-20