Incidental Mutation 'IGL01465:Safb'
ID 88093
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 # IGL01465
Quality Score
Status
Chromosome 17
Chromosomal Location 56891982-56913294 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 56909974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000052832] [ENSMUST00000095224] [ENSMUST00000182533]
AlphaFold D3YXK2
Predicted Effect probably benign
Transcript: ENSMUST00000052832
SMART Domains Protein: ENSMUSP00000052908
Gene: ENSMUSG00000049760

DomainStartEndE-ValueType
Pfam:QIL1 9 108 5.9e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000095224
AA Change: E640G
SMART Domains Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: E640G

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: ENSMUST00000182378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182461
Predicted Effect unknown
Transcript: ENSMUST00000182533
AA Change: E640G
SMART Domains Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: E640G

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 noncoding transcript
Transcript: ENSMUST00000183041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183318
Predicted Effect probably benign
Transcript: ENSMUST00000182951
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Safb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02391:Safb APN 17 56,907,813 (GRCm39) splice site 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 2013-11-18