Incidental Mutation 'IGL02332:Spocd1'
ID 288748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spocd1
Ensembl Gene ENSMUSG00000028784
Gene Name SPOC domain containing 1
Synonyms OTTMUSG00000009522
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02332
Quality Score
Status
Chromosome 4
Chromosomal Location 129823042-129850908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129842885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000118383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084263] [ENSMUST00000128007]
AlphaFold B1ASB6
Predicted Effect probably benign
Transcript: ENSMUST00000084263
AA Change: D424G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: D424G

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 damaging
Transcript: ENSMUST00000128007
AA Change: D68G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784
AA Change: D68G

DomainStartEndE-ValueType
Pfam:TFIIS_M 5 113 3.6e-28 PFAM
Blast:PAC 129 157 6e-7 BLAST
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,563,323 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,241,482 (GRCm39) Y1115F probably damaging Het
Adam29 T A 8: 56,324,775 (GRCm39) I560F probably damaging Het
Bivm T C 1: 44,167,880 (GRCm39) probably benign Het
Brinp1 C A 4: 68,823,121 (GRCm39) R24L probably benign Het
Cnga1 A G 5: 72,761,829 (GRCm39) Y562H probably damaging Het
Cr2 C A 1: 194,842,630 (GRCm39) Q256H probably benign Het
Dhcr7 A T 7: 143,396,865 (GRCm39) N119I probably damaging Het
Dio1 A T 4: 107,150,978 (GRCm39) Y169N probably damaging Het
Dmbt1 C T 7: 130,668,343 (GRCm39) probably benign Het
Eogt T G 6: 97,102,566 (GRCm39) H249P probably damaging Het
Ermard A C 17: 15,210,807 (GRCm39) probably null Het
Exoc4 T C 6: 33,226,175 (GRCm39) probably null Het
Fxr2 G T 11: 69,540,664 (GRCm39) probably null Het
Glyr1 G T 16: 4,836,817 (GRCm39) T443N probably damaging Het
Gm14137 T G 2: 119,005,807 (GRCm39) L122R probably damaging Het
Gm4845 C A 1: 141,184,335 (GRCm39) noncoding transcript Het
Gm8258 A G 5: 104,923,768 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,897,990 (GRCm39) R258H probably benign Het
Itga6 T G 2: 71,668,717 (GRCm39) L552R possibly damaging Het
Itgam T A 7: 127,684,846 (GRCm39) probably null Het
Itgb5 G T 16: 33,740,500 (GRCm39) E224* probably null Het
Itih4 C A 14: 30,609,817 (GRCm39) A49D probably damaging Het
Itpr2 A T 6: 146,328,040 (GRCm39) N64K probably damaging Het
Moap1 T C 12: 102,709,066 (GRCm39) Y161C probably benign Het
Mst1r G T 9: 107,785,025 (GRCm39) G228* probably null Het
Myo1g T C 11: 6,470,766 (GRCm39) D30G possibly damaging Het
Ndn T A 7: 61,998,573 (GRCm39) C140S probably damaging Het
Nek5 G T 8: 22,585,277 (GRCm39) Q367K probably benign Het
Nrdc A T 4: 108,858,185 (GRCm39) R52S probably damaging Het
Nup133 A T 8: 124,634,571 (GRCm39) L1007Q probably damaging Het
Or51k2 T C 7: 103,596,127 (GRCm39) M118T probably damaging Het
Or5be3 T C 2: 86,864,556 (GRCm39) D3G probably benign Het
Or5d47 A T 2: 87,804,409 (GRCm39) L200Q probably damaging Het
P2rx2 T C 5: 110,489,671 (GRCm39) S116G probably benign Het
Pcdhb13 G A 18: 37,576,635 (GRCm39) V338M probably benign Het
Pdcl2 A T 5: 76,466,982 (GRCm39) Y70* probably null Het
Ppm1e T C 11: 87,122,568 (GRCm39) H463R probably benign Het
Ppm1f T A 16: 16,731,951 (GRCm39) C134S possibly damaging Het
Ppp2r3d A G 9: 101,057,602 (GRCm39) F180L possibly damaging Het
Pxn A G 5: 115,682,985 (GRCm39) S96G probably benign Het
Rasa4 G T 5: 136,124,453 (GRCm39) Q167H probably benign Het
Rfx8 T C 1: 39,757,640 (GRCm39) I43V possibly damaging Het
Sez6 C T 11: 77,845,568 (GRCm39) probably benign Het
Slc39a6 A T 18: 24,722,880 (GRCm39) D473E probably benign Het
Syt13 T C 2: 92,771,149 (GRCm39) F79L probably benign Het
Tas2r103 A T 6: 133,013,475 (GRCm39) M197K probably benign Het
Tbrg4 A G 11: 6,568,492 (GRCm39) V429A probably damaging Het
Tuft1 A C 3: 94,523,075 (GRCm39) probably null Het
Uqcrc1 A G 9: 108,776,937 (GRCm39) T80A probably damaging Het
Vps18 A G 2: 119,124,291 (GRCm39) N406S probably benign Het
Xrn2 T A 2: 146,868,510 (GRCm39) W188R probably damaging Het
Zzef1 T G 11: 72,807,335 (GRCm39) S2738A probably benign Het
Other mutations in Spocd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02191:Spocd1 APN 4 129,847,380 (GRCm39) missense probably damaging 0.99
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
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
Posted On 2015-04-16