Incidental Mutation 'R5774:Spocd1'
ID 445550
Institutional Source Beutler Lab
Gene Symbol Spocd1
Ensembl Gene ENSMUSG00000028784
Gene Name SPOC domain containing 1
Synonyms OTTMUSG00000009522
MMRRC Submission 043373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5774 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129823042-129850908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129845579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 480 (S480T)
Ref Sequence ENSEMBL: ENSMUSP00000081284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084263] [ENSMUST00000128007]
AlphaFold B1ASB6
Predicted Effect probably benign
Transcript: ENSMUST00000084263
AA Change: S480T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: S480T

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
Predicted Effect probably benign
Transcript: ENSMUST00000128007
AA Change: S124T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784
AA Change: S124T

DomainStartEndE-ValueType
Pfam:TFIIS_M 5 113 3.6e-28 PFAM
Blast:PAC 129 157 6e-7 BLAST
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,581,668 (GRCm39) L62M probably damaging Het
Abcc9 G A 6: 142,574,285 (GRCm39) T949I probably damaging Het
Adam4 C T 12: 81,467,460 (GRCm39) S387N probably damaging Het
Akap11 T C 14: 78,748,407 (GRCm39) S1327G probably damaging Het
Arhgap1 A G 2: 91,484,453 (GRCm39) T12A possibly damaging Het
Arhgap28 A G 17: 68,188,487 (GRCm39) S228P possibly damaging Het
Atp6v1b2 A T 8: 69,554,613 (GRCm39) D106V probably damaging Het
Atp9b T G 18: 80,977,147 (GRCm39) D3A probably damaging Het
Bptf A G 11: 107,001,963 (GRCm39) F383S probably damaging Het
Cdh24 T C 14: 54,876,514 (GRCm39) T104A probably damaging Het
Cep55 A G 19: 38,051,103 (GRCm39) E171G probably damaging Het
Cntrl T A 2: 35,052,873 (GRCm39) M1126K probably benign Het
Cts3 A T 13: 61,716,184 (GRCm39) I59N probably damaging Het
Ddx52 A G 11: 83,836,960 (GRCm39) I150M probably damaging Het
Dennd6a T C 14: 26,300,974 (GRCm39) V62A probably benign Het
Dpep1 C A 8: 123,926,721 (GRCm39) D211E probably damaging Het
Gm1527 T C 3: 28,972,239 (GRCm39) V452A probably benign Het
Hmcn2 T C 2: 31,299,147 (GRCm39) V2831A possibly damaging Het
Hrob T A 11: 102,146,495 (GRCm39) I257N possibly damaging Het
Hydin G T 8: 111,298,547 (GRCm39) E3722* probably null Het
Il17a A G 1: 20,803,997 (GRCm39) S131G probably benign Het
Ing3 C T 6: 21,967,688 (GRCm39) P119S probably benign Het
Larp4b T A 13: 9,220,679 (GRCm39) probably null Het
Lca5l G T 16: 95,977,261 (GRCm39) Q177K probably benign Het
Lrrc61 C T 6: 48,545,133 (GRCm39) probably benign Het
Man2a2 T C 7: 80,018,106 (GRCm39) Y188C probably damaging Het
Mdk T C 2: 91,761,569 (GRCm39) E36G probably damaging Het
Mmp12 T C 9: 7,354,823 (GRCm39) I272T possibly damaging Het
Myh4 A T 11: 67,144,034 (GRCm39) K1135* probably null Het
Nup188 T A 2: 30,191,060 (GRCm39) Y96N probably damaging Het
Or8k33 A T 2: 86,384,351 (GRCm39) V39E possibly damaging Het
Pank4 G A 4: 155,065,119 (GRCm39) G806D probably damaging Het
Parp14 T C 16: 35,678,780 (GRCm39) Y396C probably damaging Het
Pcdhb8 T A 18: 37,489,738 (GRCm39) I472N probably damaging Het
Sema3a T A 5: 13,573,131 (GRCm39) W220R probably damaging Het
Slc35g3 A G 11: 69,651,124 (GRCm39) V309A probably damaging Het
Slc6a6 A G 6: 91,721,981 (GRCm39) M394V probably damaging Het
Specc1l G A 10: 75,081,234 (GRCm39) R210H probably damaging Het
Sptbn5 T A 2: 119,880,939 (GRCm39) noncoding transcript Het
Srrm2 A G 17: 24,037,249 (GRCm39) probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Topbp1 A G 9: 103,205,698 (GRCm39) K779E probably benign Het
Trank1 T A 9: 111,220,294 (GRCm39) F2344I probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Ube4a G A 9: 44,864,395 (GRCm39) P66L probably damaging Het
Utp6 A T 11: 79,844,424 (GRCm39) F200L probably benign Het
Vmn2r117 A T 17: 23,696,176 (GRCm39) H410Q probably damaging Het
Vps33b C T 7: 79,935,088 (GRCm39) H344Y probably benign Het
Xpo5 C T 17: 46,552,772 (GRCm39) R1145* probably null Het
Zbed4 T A 15: 88,665,852 (GRCm39) F640Y possibly damaging Het
Zfp618 C T 4: 63,050,799 (GRCm39) R527C 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
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
R7910:Spocd1 UTSW 4 129,823,893 (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'- TCTTAGAGGAGGCAGGACTTC -3'
(R):5'- TAAACATGGGGCCCACAGAG -3'

Sequencing Primer
(F):5'- CTGGCTTTCTGAGTGAACAGAGAG -3'
(R):5'- CCCACAGAGTAGGCAATGGC -3'
Posted On 2016-11-21