Incidental Mutation 'R6300:Safb2'
ID 509067
Institutional Source Beutler Lab
Gene Symbol Safb2
Ensembl Gene ENSMUSG00000042625
Gene Name scaffold attachment factor B2
Synonyms
MMRRC Submission 044409-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # R6300 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56867965-56891585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56870226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 950 (H950R)
Ref Sequence ENSEMBL: ENSMUSP00000074953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000131056] [ENSMUST00000142940] [ENSMUST00000144255] [ENSMUST00000154991]
AlphaFold Q80YR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000075510
AA Change: H950R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: H950R

DomainStartEndE-ValueType
SAP 25 59 8.21e-11 SMART
low complexity region 91 104 N/A INTRINSIC
low complexity region 162 173 N/A INTRINSIC
coiled coil region 262 285 N/A INTRINSIC
low complexity region 286 294 N/A INTRINSIC
low complexity region 318 335 N/A INTRINSIC
RRM 452 525 1.33e-19 SMART
low complexity region 557 578 N/A INTRINSIC
low complexity region 631 645 N/A INTRINSIC
coiled coil region 658 772 N/A INTRINSIC
low complexity region 798 815 N/A INTRINSIC
low complexity region 920 944 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124111
SMART Domains Protein: ENSMUSP00000120845
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 59 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127947
Predicted Effect probably benign
Transcript: ENSMUST00000131056
SMART Domains Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 44 65 N/A INTRINSIC
low complexity region 118 133 N/A INTRINSIC
coiled coil region 146 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142752
SMART Domains Protein: ENSMUSP00000119141
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 42 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142940
SMART Domains Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
coiled coil region 22 136 N/A INTRINSIC
low complexity region 162 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144255
SMART Domains Protein: ENSMUSP00000123673
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
SAP 25 59 8.21e-11 SMART
low complexity region 91 104 N/A INTRINSIC
low complexity region 162 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156640
SMART Domains Protein: ENSMUSP00000118127
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 62 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154991
SMART Domains Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
coiled coil region 23 137 N/A INTRINSIC
low complexity region 163 180 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, along with its paralog (scaffold attachment factor B1), is a repressor of estrogen receptor alpha. The encoded protein binds scaffold/matrix attachment region (S/MAR) DNA and is involved in cell cycle regulation, apoptosis, differentiation, the stress response, and regulation of immune genes. [provided by RefSeq, May 2016]
PHENOTYPE: Male homozyous mutant mice exhibit an increase in testis weight and an increased number of Sertoli cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,642,885 (GRCm39) T185A possibly damaging Het
4932414N04Rik A G 2: 68,561,453 (GRCm39) Y260C possibly damaging Het
Adamtsl1 G A 4: 86,166,254 (GRCm39) G395S probably damaging Het
Amn T C 12: 111,240,623 (GRCm39) L85P probably benign Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Apip C T 2: 102,917,498 (GRCm39) R66C possibly damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Apol6 A T 15: 76,935,471 (GRCm39) I247L probably benign Het
Arfgap2 A G 2: 91,097,540 (GRCm39) Q112R probably benign Het
Armh1 A G 4: 117,088,979 (GRCm39) Y139H probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cct2 C T 10: 116,892,064 (GRCm39) G328D probably damaging Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cers5 G T 15: 99,670,100 (GRCm39) A54E probably damaging Het
Ctdp1 T A 18: 80,502,455 (GRCm39) M152L probably benign Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Defb36 T A 2: 152,454,418 (GRCm39) W26R probably damaging Het
Dnah17 T C 11: 117,925,136 (GRCm39) E3899G probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Duox1 T G 2: 122,168,181 (GRCm39) L1102R probably damaging Het
Dzip3 A G 16: 48,772,170 (GRCm39) S500P probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Hoxd3 A G 2: 74,574,420 (GRCm39) Y22C probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il6ra A G 3: 89,794,436 (GRCm39) V175A probably damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Marchf10 T C 11: 105,273,063 (GRCm39) E692G probably damaging Het
Mars1 G A 10: 127,132,429 (GRCm39) T856M probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pepd G A 7: 34,668,968 (GRCm39) R196H probably damaging Het
Pla2g4e A T 2: 120,013,219 (GRCm39) M367K probably benign Het
Prdm4 A G 10: 85,746,085 (GRCm39) probably null Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Serpina3k A T 12: 104,306,981 (GRCm39) N71I probably damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Smc4 T C 3: 68,935,224 (GRCm39) V771A probably benign Het
Snapc4 A G 2: 26,268,563 (GRCm39) S33P probably benign Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tjp3 T A 10: 81,116,951 (GRCm39) R193* probably null Het
Tm7sf2 A T 19: 6,117,230 (GRCm39) W58R probably damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Utrn T A 10: 12,377,220 (GRCm39) Y2612F probably benign Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp382 G A 7: 29,831,054 (GRCm39) probably null Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably damaging Het
Other mutations in Safb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Safb2 APN 17 56,878,208 (GRCm39) critical splice donor site probably null
IGL00954:Safb2 APN 17 56,885,639 (GRCm39) critical splice donor site probably null
IGL01085:Safb2 APN 17 56,872,242 (GRCm39) nonsense probably null
IGL03073:Safb2 APN 17 56,878,289 (GRCm39) missense probably benign 0.06
R0748:Safb2 UTSW 17 56,882,580 (GRCm39) missense probably benign 0.30
R1297:Safb2 UTSW 17 56,891,265 (GRCm39) unclassified probably benign
R1876:Safb2 UTSW 17 56,883,909 (GRCm39) splice site probably null
R2921:Safb2 UTSW 17 56,875,906 (GRCm39) missense possibly damaging 0.46
R3966:Safb2 UTSW 17 56,882,356 (GRCm39) missense probably null 1.00
R5140:Safb2 UTSW 17 56,884,901 (GRCm39) missense probably benign 0.01
R5484:Safb2 UTSW 17 56,882,346 (GRCm39) intron probably benign
R5542:Safb2 UTSW 17 56,882,647 (GRCm39) missense probably damaging 0.97
R5602:Safb2 UTSW 17 56,882,630 (GRCm39) missense possibly damaging 0.65
R5801:Safb2 UTSW 17 56,870,103 (GRCm39) missense possibly damaging 0.96
R5864:Safb2 UTSW 17 56,873,491 (GRCm39) unclassified probably benign
R5985:Safb2 UTSW 17 56,870,181 (GRCm39) missense possibly damaging 0.72
R6060:Safb2 UTSW 17 56,870,246 (GRCm39) splice site probably null
R6279:Safb2 UTSW 17 56,870,226 (GRCm39) missense possibly damaging 0.53
R6411:Safb2 UTSW 17 56,878,289 (GRCm39) missense probably benign 0.06
R6555:Safb2 UTSW 17 56,889,982 (GRCm39) critical splice donor site probably null
R6555:Safb2 UTSW 17 56,874,600 (GRCm39) missense probably damaging 1.00
R7039:Safb2 UTSW 17 56,871,594 (GRCm39) missense possibly damaging 0.82
R7515:Safb2 UTSW 17 56,889,982 (GRCm39) critical splice donor site probably null
R7796:Safb2 UTSW 17 56,873,327 (GRCm39) missense possibly damaging 0.53
R8186:Safb2 UTSW 17 56,873,051 (GRCm39) missense possibly damaging 0.91
R8361:Safb2 UTSW 17 56,890,061 (GRCm39) missense probably damaging 0.99
R8918:Safb2 UTSW 17 56,882,975 (GRCm39) nonsense probably null
R8998:Safb2 UTSW 17 56,870,391 (GRCm39) missense possibly damaging 0.53
R9025:Safb2 UTSW 17 56,873,614 (GRCm39) missense probably damaging 0.99
R9176:Safb2 UTSW 17 56,878,292 (GRCm39) utr 3 prime probably benign
R9183:Safb2 UTSW 17 56,878,292 (GRCm39) utr 3 prime probably benign
R9184:Safb2 UTSW 17 56,878,292 (GRCm39) utr 3 prime probably benign
R9213:Safb2 UTSW 17 56,882,602 (GRCm39) missense probably benign 0.01
R9522:Safb2 UTSW 17 56,873,900 (GRCm39) missense probably damaging 1.00
X0066:Safb2 UTSW 17 56,872,978 (GRCm39) missense probably benign 0.29
Z1186:Safb2 UTSW 17 56,870,246 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACACTTGGCAGAACCTGTG -3'
(R):5'- AGAGTCCACAGAGCTCTCTC -3'

Sequencing Primer
(F):5'- ACCTGTGAGGGTTCCACAAGTG -3'
(R):5'- TCTCTCCTGCAGGTGCTGAG -3'
Posted On 2018-04-02