Incidental Mutation 'R0710:Sinhcaf'
ID 62696
Institutional Source Beutler Lab
Gene Symbol Sinhcaf
Ensembl Gene ENSMUSG00000039985
Gene Name SIN3-HDAC complex associated factor
Synonyms Pptcs1, Fam60a, Tera
MMRRC Submission 038893-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R0710 (G1)
Quality Score 126
Status Not validated
Chromosome 6
Chromosomal Location 148822538-148847968 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 148834498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054080] [ENSMUST00000081956] [ENSMUST00000111562] [ENSMUST00000132696] [ENSMUST00000139355] [ENSMUST00000139355] [ENSMUST00000146457] [ENSMUST00000203164] [ENSMUST00000203164] [ENSMUST00000204435] [ENSMUST00000204435] [ENSMUST00000204590] [ENSMUST00000204119]
AlphaFold Q8C8M1
Predicted Effect probably null
Transcript: ENSMUST00000054080
SMART Domains Protein: ENSMUSP00000050952
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 198 5.2e-86 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000081956
SMART Domains Protein: ENSMUSP00000107188
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 200 5.5e-92 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111562
SMART Domains Protein: ENSMUSP00000107187
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 200 5.5e-92 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132696
SMART Domains Protein: ENSMUSP00000115417
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 156 2.8e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139355
SMART Domains Protein: ENSMUSP00000119540
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 95 6.3e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139355
SMART Domains Protein: ENSMUSP00000119540
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 95 6.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143963
Predicted Effect probably null
Transcript: ENSMUST00000146457
SMART Domains Protein: ENSMUSP00000117859
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 53 1.2e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203164
SMART Domains Protein: ENSMUSP00000145370
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 133 8.1e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203164
SMART Domains Protein: ENSMUSP00000145370
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 133 8.1e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204435
SMART Domains Protein: ENSMUSP00000145487
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 198 5.2e-86 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204435
SMART Domains Protein: ENSMUSP00000145487
Gene: ENSMUSG00000039985

DomainStartEndE-ValueType
Pfam:FAM60A 2 198 5.2e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204590
Predicted Effect probably benign
Transcript: ENSMUST00000204119
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Celsr2 A G 3: 108,320,028 (GRCm39) V928A probably benign Het
Farp1 C T 14: 121,474,555 (GRCm39) T256M probably damaging Het
Fbxl3 G T 14: 103,326,751 (GRCm39) H162Q probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,372,759 (GRCm39) S260P unknown Het
Hectd4 G A 5: 121,474,691 (GRCm39) V2771I probably benign Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Hmg20a G A 9: 56,381,954 (GRCm39) D77N possibly damaging Het
Iqch A T 9: 63,432,418 (GRCm39) S287T probably benign Het
Kcnj11 T C 7: 45,748,549 (GRCm39) Y258C probably benign Het
Kif1c A G 11: 70,617,323 (GRCm39) T874A probably benign Het
Mlc1 G T 15: 88,862,067 (GRCm39) Q50K possibly damaging Het
Mtor T C 4: 148,548,848 (GRCm39) S544P possibly damaging Het
Mypop A T 7: 18,734,485 (GRCm39) probably null Het
Poli A T 18: 70,655,961 (GRCm39) probably null Het
Rasa3 C A 8: 13,633,830 (GRCm39) V478L probably damaging Het
Scn3a A T 2: 65,299,390 (GRCm39) M1372K probably damaging Het
Sis T C 3: 72,859,864 (GRCm39) Q297R probably damaging Het
Tnpo3 T C 6: 29,586,074 (GRCm39) D172G possibly damaging Het
Tulp2 T A 7: 45,170,232 (GRCm39) V301D possibly damaging Het
Ubr2 G A 17: 47,249,607 (GRCm39) R1582W probably damaging Het
Ubr3 T C 2: 69,783,181 (GRCm39) S706P probably damaging Het
Vmn1r171 C A 7: 23,332,426 (GRCm39) S205Y probably damaging Het
Wnk4 G A 11: 101,164,932 (GRCm39) A754T probably benign Het
Zfp282 C T 6: 47,857,318 (GRCm39) R184W probably damaging Het
Other mutations in Sinhcaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Sinhcaf APN 6 148,830,005 (GRCm39) critical splice donor site probably null
R0637:Sinhcaf UTSW 6 148,832,163 (GRCm39) intron probably benign
R3788:Sinhcaf UTSW 6 148,827,617 (GRCm39) missense possibly damaging 0.86
R3789:Sinhcaf UTSW 6 148,827,617 (GRCm39) missense possibly damaging 0.86
R4896:Sinhcaf UTSW 6 148,834,498 (GRCm39) critical splice donor site probably null
R5574:Sinhcaf UTSW 6 148,846,378 (GRCm39) unclassified probably benign
R7438:Sinhcaf UTSW 6 148,834,600 (GRCm39) missense probably benign 0.15
R7922:Sinhcaf UTSW 6 148,827,644 (GRCm39) missense probably benign 0.44
R8970:Sinhcaf UTSW 6 148,834,624 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTCCAGCTAAAACCATAAAGAGGCAG -3'
(R):5'- GGAGCCCAGAACGGCTTATATATGC -3'

Sequencing Primer
(F):5'- GCAGAGTAAGCAGTCAGTACTAAC -3'
(R):5'- ataaaattCCCTGTGCTATGGAGTAG -3'
Posted On 2013-07-30