Incidental Mutation 'IGL02191:Spocd1'
ID 283853
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 # IGL02191
Quality Score
Status
Chromosome 4
Chromosomal Location 129823042-129850908 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129847380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 523 (D523G)
Ref Sequence ENSEMBL: ENSMUSP00000081284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084263] [ENSMUST00000128007]
AlphaFold B1ASB6
Predicted Effect probably damaging
Transcript: ENSMUST00000084263
AA Change: D523G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081284
Gene: ENSMUSG00000028784
AA Change: D523G

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
SMART Domains Protein: ENSMUSP00000118383
Gene: ENSMUSG00000028784

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Spocd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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