Incidental Mutation 'R7548:Spocd1'
ID 584295
Institutional Source Beutler Lab
Gene Symbol Spocd1
Ensembl Gene ENSMUSG00000028784
Gene Name SPOC domain containing 1
Synonyms OTTMUSG00000009522
MMRRC Submission 045619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7548 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129823042-129850908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129823602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 133 (L133P)
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: L133P

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,016,059 (GRCm39) S146N possibly damaging Het
Acr T C 15: 89,458,596 (GRCm39) S426P possibly damaging Het
Arl6ip1 A T 7: 117,725,733 (GRCm39) I59N probably damaging Het
Atp2b4 A T 1: 133,629,379 (GRCm39) *81K probably null Het
Atp8a1 T A 5: 67,973,071 (GRCm39) R26* probably null Het
Atp8b4 T A 2: 126,231,262 (GRCm39) Q453L probably benign Het
B4galt4 A G 16: 38,574,428 (GRCm39) E134G probably damaging Het
Bcl9 G A 3: 97,113,209 (GRCm39) T1082I probably damaging Het
Catsperg2 A G 7: 29,409,251 (GRCm39) F617L probably benign Het
Ccdc15 T C 9: 37,188,723 (GRCm39) N800S probably benign Het
Cd300ld T C 11: 114,878,248 (GRCm39) D88G probably benign Het
Ceacam2 A T 7: 25,229,958 (GRCm39) V216E probably benign Het
Cecr2 T A 6: 120,738,675 (GRCm39) M356K Het
Cenpm T C 15: 82,128,880 (GRCm39) M1V probably null Het
Ces2e A G 8: 105,658,538 (GRCm39) E401G probably benign Het
Cib3 C A 8: 72,961,041 (GRCm39) L65F probably damaging Het
Clip4 C G 17: 72,096,963 (GRCm39) T29R probably benign Het
Cnot7 A G 8: 40,953,874 (GRCm39) I131T probably damaging Het
Cntn5 A T 9: 9,673,415 (GRCm39) probably null Het
Col11a1 A C 3: 113,917,409 (GRCm39) H732P unknown Het
Coq4 A T 2: 29,685,420 (GRCm39) T145S possibly damaging Het
Cwf19l1 T C 19: 44,098,989 (GRCm39) D527G probably benign Het
Cyp3a25 T C 5: 145,923,735 (GRCm39) I303V probably damaging Het
Dab2 C T 15: 6,459,399 (GRCm39) T437I possibly damaging Het
Dlc1 A G 8: 37,051,809 (GRCm39) S190P probably benign Het
Dnah6 G A 6: 73,004,423 (GRCm39) L3847F probably damaging Het
Dnmbp T C 19: 43,877,838 (GRCm39) E411G probably benign Het
Dpp8 T C 9: 64,944,517 (GRCm39) Y95H probably damaging Het
Emb T A 13: 117,408,590 (GRCm39) D310E possibly damaging Het
Eml4 C A 17: 83,732,766 (GRCm39) Q140K probably benign Het
Epb41l3 T C 17: 69,517,271 (GRCm39) S100P probably damaging Het
Fat4 A T 3: 39,035,263 (GRCm39) T2972S probably benign Het
Fignl2 T C 15: 100,951,079 (GRCm39) E401G unknown Het
Fryl T A 5: 73,349,105 (GRCm39) D19V unknown Het
Gck C T 11: 5,852,040 (GRCm39) G16R Het
Gm3371 T C 14: 44,648,145 (GRCm39) M1V probably null Het
Hlcs T A 16: 93,933,876 (GRCm39) K661* probably null Het
Il17re C G 6: 113,443,348 (GRCm39) P363A probably damaging Het
Kif24 C T 4: 41,423,601 (GRCm39) E217K possibly damaging Het
Klhdc7b T C 15: 89,272,907 (GRCm39) I605T probably damaging Het
Krt31 T C 11: 99,940,346 (GRCm39) T170A probably damaging Het
Lgals3bp T C 11: 118,287,669 (GRCm39) D126G probably benign Het
Lig1 T A 7: 13,035,344 (GRCm39) F601Y possibly damaging Het
Lrp6 A G 6: 134,484,471 (GRCm39) I384T probably damaging Het
Mfap5 A T 6: 122,502,993 (GRCm39) T102S probably benign Het
Mfsd6 A G 1: 52,702,446 (GRCm39) F600S possibly damaging Het
Nlrp4a G A 7: 26,149,604 (GRCm39) E404K probably damaging Het
Nme3 T C 17: 25,115,522 (GRCm39) L12P probably damaging Het
Nxpe5 A T 5: 138,249,493 (GRCm39) T428S probably benign Het
Or1e26 G A 11: 73,479,802 (GRCm39) T254I possibly damaging Het
Or4c122 T C 2: 89,079,430 (GRCm39) T191A probably benign Het
Prr5 C A 15: 84,641,259 (GRCm39) P175Q possibly damaging Het
Psmc6 T C 14: 45,572,375 (GRCm39) Y110H probably benign Het
Pthlh T A 6: 147,158,653 (GRCm39) R102S possibly damaging Het
Ric8b G T 10: 84,783,736 (GRCm39) S198I probably damaging Het
Rrp7a C A 15: 83,001,871 (GRCm39) R212S possibly damaging Het
Rubcnl T C 14: 75,279,792 (GRCm39) Y392H probably benign Het
Sag G A 1: 87,772,638 (GRCm39) V369I probably benign Het
Sar1b A G 11: 51,680,094 (GRCm39) E140G probably benign Het
Sema3d T A 5: 12,627,783 (GRCm39) M658K unknown Het
Skor2 C T 18: 76,948,600 (GRCm39) S774F possibly damaging Het
Slc1a6 G T 10: 78,650,265 (GRCm39) R501L probably damaging Het
Spata31d1b A G 13: 59,864,468 (GRCm39) M539V probably benign Het
Sptlc1 A T 13: 53,521,968 (GRCm39) N96K possibly damaging Het
Stox1 A T 10: 62,501,946 (GRCm39) S205T probably damaging Het
Tec T C 5: 72,917,693 (GRCm39) M509V probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Ttc34 T A 4: 154,940,816 (GRCm39) L499Q probably damaging Het
Uqcc1 A G 2: 155,751,309 (GRCm39) C120R probably damaging Het
Usp39 C T 6: 72,321,996 (GRCm39) S46N possibly damaging Het
Zbtb5 T C 4: 44,994,724 (GRCm39) E220G probably benign Het
Zfp287 A T 11: 62,604,701 (GRCm39) C735* probably null 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
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'- TCCCTGAGGTTTGGTCAAAGAC -3'
(R):5'- GAAAGTCCTTGTTCCAGCTCC -3'

Sequencing Primer
(F):5'- GTCAAAGACCAGATGGGGAC -3'
(R):5'- ATCCTGGACCCTGACTGG -3'
Posted On 2019-10-17