Incidental Mutation 'R5602:Safb2'
ID 439106
Institutional Source Beutler Lab
Gene Symbol Safb2
Ensembl Gene ENSMUSG00000042625
Gene Name scaffold attachment factor B2
Synonyms
MMRRC Submission 043154-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # R5602 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 56867965-56891585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56882630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 334 (K334N)
Ref Sequence ENSEMBL: ENSMUSP00000074953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000131056] [ENSMUST00000133604] [ENSMUST00000155983] [ENSMUST00000144255]
AlphaFold Q80YR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000075510
AA Change: K334N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: K334N

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 noncoding transcript
Transcript: ENSMUST00000124457
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: ENSMUST00000133604
SMART Domains Protein: ENSMUSP00000119324
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: ENSMUST00000134497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156640
SMART Domains Protein: ENSMUSP00000118127
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 62 86 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146958
Predicted Effect probably benign
Transcript: ENSMUST00000155983
SMART Domains Protein: ENSMUSP00000116363
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 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik G A 2: 151,315,459 (GRCm39) S73F possibly damaging Het
4932414N04Rik A T 2: 68,578,712 (GRCm39) *753L probably null Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 T C 11: 46,027,142 (GRCm39) S592P probably benign Het
Adamtsl3 A G 7: 82,206,447 (GRCm39) K843R possibly damaging Het
Ap2a2 A T 7: 141,184,855 (GRCm39) T213S probably benign Het
Asb5 A G 8: 55,038,974 (GRCm39) E280G probably benign Het
Becn1 T C 11: 101,179,778 (GRCm39) D403G probably damaging Het
Ccr7 G T 11: 99,036,315 (GRCm39) N202K probably benign Het
Cd36 T C 5: 18,019,790 (GRCm39) T104A possibly damaging Het
Cnot4 C T 6: 35,028,464 (GRCm39) W384* probably null Het
Col15a1 G A 4: 47,312,087 (GRCm39) V1301M probably damaging Het
Dock2 C A 11: 34,204,391 (GRCm39) A1384S probably benign Het
Ehbp1l1 T C 19: 5,758,698 (GRCm39) E1648G possibly damaging Het
Fbn1 G T 2: 125,163,661 (GRCm39) A2065E possibly damaging Het
Fras1 A G 5: 96,884,880 (GRCm39) Y2586C probably damaging Het
Galm T A 17: 80,457,568 (GRCm39) Y28* probably null Het
Ggt7 A G 2: 155,332,919 (GRCm39) V648A possibly damaging Het
Gm17067 T A 7: 42,357,839 (GRCm39) D221V probably damaging Het
Gpr3 T C 4: 132,937,805 (GRCm39) N289S probably damaging Het
Ighv11-2 A G 12: 114,012,277 (GRCm39) probably benign Het
Ighv11-2 G A 12: 114,012,099 (GRCm39) L39F probably damaging Het
Ipo9 G A 1: 135,329,983 (GRCm39) L486F probably damaging Het
Jak2 T A 19: 29,275,739 (GRCm39) N726K probably benign Het
Map4 T C 9: 109,881,768 (GRCm39) S211P possibly damaging Het
Mlh1 A T 9: 111,081,946 (GRCm39) L259Q probably damaging Het
Naa25 A G 5: 121,558,558 (GRCm39) E300G probably benign Het
Or8g34 A T 9: 39,373,326 (GRCm39) M200L probably benign Het
Or8g54 T A 9: 39,707,490 (GRCm39) V273E possibly damaging Het
Parva G A 7: 112,166,972 (GRCm39) V182I probably benign Het
Pcdhgb4 T C 18: 37,854,697 (GRCm39) I364T probably damaging Het
Pdik1l A G 4: 134,011,580 (GRCm39) S164P probably damaging Het
Pfas A T 11: 68,881,871 (GRCm39) I938N probably benign Het
Plscr1l1 G A 9: 92,234,721 (GRCm39) C152Y possibly damaging Het
Prdm4 TCTCCTCCT TCTCCT 10: 85,728,987 (GRCm39) probably null Het
Prob1 C T 18: 35,787,079 (GRCm39) V392M possibly damaging Het
Rasgrf1 T C 9: 89,793,624 (GRCm39) S134P possibly damaging Het
Rorb T A 19: 18,955,301 (GRCm39) Y20F probably damaging Het
Rsph9 G T 17: 46,445,909 (GRCm39) D220E probably damaging Het
Sall3 T C 18: 81,016,027 (GRCm39) T634A probably benign Het
Scaf1 A G 7: 44,657,007 (GRCm39) probably benign Het
Slco1a5 T A 6: 142,221,255 (GRCm39) probably benign Het
Spata21 C T 4: 140,824,210 (GRCm39) R158C probably benign Het
Srrm2 G A 17: 24,038,311 (GRCm39) probably benign Het
Stk38l C A 6: 146,659,998 (GRCm39) T10N probably benign Het
Supv3l1 G A 10: 62,266,371 (GRCm39) P602S possibly damaging Het
Timm44 C T 8: 4,316,769 (GRCm39) probably null Het
Tll2 T A 19: 41,093,420 (GRCm39) R465S possibly damaging Het
Tmem104 G A 11: 115,095,950 (GRCm39) A164T probably damaging Het
Tmem151b A G 17: 45,856,526 (GRCm39) S305P probably damaging Het
Utrn T C 10: 12,625,839 (GRCm39) D114G probably damaging Het
Vmn2r109 A T 17: 20,760,933 (GRCm39) M808K possibly damaging Het
Washc2 T A 6: 116,225,056 (GRCm39) D801E possibly damaging Het
Xkr4 T C 1: 3,286,751 (GRCm39) I480V probably benign Het
Zfp507 G T 7: 35,475,663 (GRCm39) S58* probably null Het
Zfp768 T A 7: 126,943,804 (GRCm39) D108V possibly 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
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
R6300: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'- AAGCAAACTTCTTCACGTCTTC -3'
(R):5'- ACCTATTTGAGAGCTGCGGC -3'

Sequencing Primer
(F):5'- CTTTGCTATCTTGGGGCTCAG -3'
(R):5'- GCCACCCGGAAGAGGAAG -3'
Posted On 2016-10-26