Incidental Mutation 'R1941:Safb'
ID 214040
Institutional Source Beutler Lab
Gene Symbol Safb
Ensembl Gene ENSMUSG00000071054
Gene Name scaffold attachment factor B
Synonyms 5330423C17Rik, SAFB1, 3110021E02Rik
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.757) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56891982-56913294 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 56905992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000095224] [ENSMUST00000182533]
AlphaFold D3YXK2
Predicted Effect unknown
Transcript: ENSMUST00000095224
AA Change: M329K
SMART Domains Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: M329K

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: ENSMUST00000182461
Predicted Effect unknown
Transcript: ENSMUST00000182533
AA Change: M329K
SMART Domains Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: M329K

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 probably benign
Transcript: ENSMUST00000182951
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging Het
Other mutations in Safb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Safb APN 17 56,909,974 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GGACCTATTTGAGAGCTGCG -3'
(R):5'- CTGGCTGAGGACTCTTTAGG -3'

Sequencing Primer
(F):5'- TATTTGAGAGCTGCGGCCAC -3'
(R):5'- CGCAGGGACGTCATTACAAGC -3'
Posted On 2014-07-14