Incidental Mutation 'IGL02391:Safb'
ID 293877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Safb
Ensembl Gene ENSMUSG00000071054
Gene Name scaffold attachment factor B
Synonyms 5330423C17Rik, SAFB1, 3110021E02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.757) question?
Stock # IGL02391
Quality Score
Status
Chromosome 17
Chromosomal Location 56891982-56913294 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 56907813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000095224] [ENSMUST00000182533]
AlphaFold D3YXK2
Predicted Effect probably benign
Transcript: ENSMUST00000095224
SMART Domains Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
SAP 31 65 7.15e-11 SMART
coiled coil region 268 291 N/A INTRINSIC
low complexity region 292 300 N/A INTRINSIC
RRM 429 502 3.76e-19 SMART
coiled coil region 651 728 N/A INTRINSIC
low complexity region 760 778 N/A INTRINSIC
low complexity region 885 898 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182461
Predicted Effect probably benign
Transcript: ENSMUST00000182533
SMART Domains Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
SAP 31 65 7.15e-11 SMART
coiled coil region 268 291 N/A INTRINSIC
low complexity region 292 300 N/A INTRINSIC
RRM 429 502 3.76e-19 SMART
coiled coil region 651 728 N/A INTRINSIC
low complexity region 760 778 N/A INTRINSIC
low complexity region 831 842 N/A INTRINSIC
low complexity region 887 900 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182913
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 DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous null mice display partial embryonic and neonatal lethality, neonatal cyanosis, impaired embryonic hematopoiesis, male sterility, azoospermia, reduced female fertility, impaired transport of embryos through the oviduct, reduced embryonic growth, testicular degeneration and ovarian atrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Spred3 A G 7: 28,865,830 (GRCm39) S126P probably benign Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging Het
Other mutations in Safb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Safb APN 17 56,909,974 (GRCm39) unclassified probably benign
IGL03145:Safb APN 17 56,912,287 (GRCm39) missense probably damaging 1.00
R0245:Safb UTSW 17 56,913,025 (GRCm39) missense probably damaging 1.00
R0464:Safb UTSW 17 56,913,025 (GRCm39) missense probably damaging 1.00
R0468:Safb UTSW 17 56,913,025 (GRCm39) missense probably damaging 1.00
R0479:Safb UTSW 17 56,913,025 (GRCm39) missense probably damaging 1.00
R0496:Safb UTSW 17 56,912,630 (GRCm39) missense probably benign 0.05
R0639:Safb UTSW 17 56,908,092 (GRCm39) utr 3 prime probably benign
R0655:Safb UTSW 17 56,904,803 (GRCm39) missense probably benign 0.23
R1109:Safb UTSW 17 56,908,228 (GRCm39) splice site probably benign
R1941:Safb UTSW 17 56,905,992 (GRCm39) intron probably benign
R1969:Safb UTSW 17 56,912,821 (GRCm39) missense probably benign 0.32
R1971:Safb UTSW 17 56,912,821 (GRCm39) missense probably benign 0.32
R4010:Safb UTSW 17 56,910,765 (GRCm39) unclassified probably benign
R4132:Safb UTSW 17 56,907,848 (GRCm39) utr 3 prime probably benign
R5429:Safb UTSW 17 56,895,822 (GRCm39) missense probably benign 0.15
R5681:Safb UTSW 17 56,906,000 (GRCm39) intron probably benign
R5900:Safb UTSW 17 56,907,349 (GRCm39) missense unknown
R6077:Safb UTSW 17 56,909,956 (GRCm39) unclassified probably benign
R6173:Safb UTSW 17 56,904,798 (GRCm39) missense probably damaging 1.00
R6367:Safb UTSW 17 56,900,845 (GRCm39) unclassified probably benign
R6735:Safb UTSW 17 56,892,169 (GRCm39) unclassified probably benign
R6736:Safb UTSW 17 56,913,023 (GRCm39) missense possibly damaging 0.46
R7699:Safb UTSW 17 56,908,504 (GRCm39) missense unknown
R7834:Safb UTSW 17 56,900,881 (GRCm39) missense unknown
R7909:Safb UTSW 17 56,902,665 (GRCm39) missense unknown
R8167:Safb UTSW 17 56,892,286 (GRCm39) missense unknown
R8810:Safb UTSW 17 56,910,579 (GRCm39) missense unknown
X0065:Safb UTSW 17 56,910,798 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16