Incidental Mutation 'IGL03145:Safb'
ID 410858
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 # IGL03145
Quality Score
Status
Chromosome 17
Chromosomal Location 56891982-56913294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56912287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 802 (Y802H)
Ref Sequence ENSEMBL: ENSMUSP00000138277 (fasta)
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 probably damaging
Transcript: ENSMUST00000095224
AA Change: Y802H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: Y802H

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 probably damaging
Transcript: ENSMUST00000182533
AA Change: Y802H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: Y802H

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: ENSMUST00000183318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183041
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Cnga3 A G 1: 37,300,755 (GRCm39) S530G probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or5p72 T A 7: 108,021,806 (GRCm39) H9Q probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Tpm2 T C 4: 43,519,447 (GRCm39) E145G probably damaging Het
Trib2 G A 12: 15,859,932 (GRCm39) H110Y probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Ube2o T C 11: 116,434,835 (GRCm39) E542G probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably 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
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 2016-08-02