Incidental Mutation 'R5140:Safb2'
ID 396424
Institutional Source Beutler Lab
Gene Symbol Safb2
Ensembl Gene ENSMUSG00000042625
Gene Name scaffold attachment factor B2
Synonyms
MMRRC Submission 042726-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # R5140 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56867965-56891585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56884901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 178 (D178G)
Ref Sequence ENSEMBL: ENSMUSP00000116363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000133604] [ENSMUST00000144255] [ENSMUST00000155983]
AlphaFold Q80YR5
Predicted Effect probably benign
Transcript: ENSMUST00000075510
AA Change: D178G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: D178G

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 silent
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: ENSMUST00000134741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140037
Predicted Effect silent
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: ENSMUST00000146958
Predicted Effect probably benign
Transcript: ENSMUST00000155983
AA Change: D178G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000116363
Gene: ENSMUSG00000042625
AA Change: D178G

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: ENSMUST00000146070
Meta Mutation Damage Score 0.1206 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (59/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,154 (GRCm39) I405N probably damaging Het
Abhd17b T C 19: 21,661,545 (GRCm39) L244P probably damaging Het
Aebp2 T A 6: 140,579,532 (GRCm39) C34* probably null Het
Arhgap33 A G 7: 30,227,726 (GRCm39) V491A probably damaging Het
Cacul1 C T 19: 60,551,619 (GRCm39) R201Q probably benign Het
Cald1 T A 6: 34,730,515 (GRCm39) N77K probably damaging Het
Clcn6 A C 4: 148,122,774 (GRCm39) probably benign Het
Copb1 A T 7: 113,846,035 (GRCm39) H178Q probably benign Het
Dnah17 C T 11: 117,977,771 (GRCm39) V1854I probably damaging Het
Dnajc16 T G 4: 141,491,994 (GRCm39) T610P possibly damaging Het
Enpp1 T C 10: 24,528,750 (GRCm39) N624S possibly damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Foxn1 T C 11: 78,252,459 (GRCm39) T310A probably benign Het
Galnt16 T A 12: 80,628,073 (GRCm39) D256E possibly damaging Het
Gbp11 T C 5: 105,478,919 (GRCm39) D173G probably damaging Het
Glmn A G 5: 107,718,066 (GRCm39) S284P probably damaging Het
Gm3985 A G 8: 33,380,693 (GRCm39) noncoding transcript Het
Hs3st6 A T 17: 24,977,521 (GRCm39) M334L probably benign Het
Idua T A 5: 108,828,180 (GRCm39) D155E probably damaging Het
Kdm6b T C 11: 69,290,881 (GRCm39) probably benign Het
Kiss1r T C 10: 79,757,461 (GRCm39) F272L probably damaging Het
Krt35 T C 11: 99,985,343 (GRCm39) K233E probably damaging Het
Krt36 C T 11: 99,994,328 (GRCm39) V250M probably damaging Het
Lhpp T C 7: 132,307,361 (GRCm39) Y253H probably damaging Het
Npas3 T A 12: 53,547,897 (GRCm39) L51* probably null Het
Or10ac1 T C 6: 42,515,449 (GRCm39) H169R probably benign Het
Or1j18 T A 2: 36,624,510 (GRCm39) M59K possibly damaging Het
Or4a74 T C 2: 89,439,627 (GRCm39) Y273C probably damaging Het
Or4c119 T C 2: 88,987,451 (GRCm39) K23E probably benign Het
Or56b2 T C 7: 104,338,107 (GRCm39) M295T probably benign Het
Pcdhb9 T G 18: 37,534,186 (GRCm39) V60G probably benign Het
Prkce T C 17: 86,789,570 (GRCm39) V239A probably benign Het
Ralgapa1 C T 12: 55,822,937 (GRCm39) C293Y probably damaging Het
Ralgapa1 C T 12: 55,712,459 (GRCm39) R1804Q probably damaging Het
Rnf26 C A 9: 44,024,071 (GRCm39) probably null Het
Scn9a C T 2: 66,395,511 (GRCm39) V178M possibly damaging Het
Sergef A G 7: 46,285,026 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,190,544 (GRCm39) G7R probably benign Het
Setd2 C A 9: 110,380,197 (GRCm39) D1337E probably benign Het
Shprh T A 10: 11,030,449 (GRCm39) M222K probably benign Het
Slc25a40 T C 5: 8,480,486 (GRCm39) Y79H probably damaging Het
Slc41a2 A G 10: 83,133,155 (GRCm39) M297T probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spcs1 A G 14: 30,722,570 (GRCm39) L83S probably benign Het
Sult1c2 T C 17: 54,276,743 (GRCm39) N106S probably benign Het
Szt2 C T 4: 118,244,178 (GRCm39) R1309Q possibly damaging Het
Ube3c T A 5: 29,840,709 (GRCm39) F695I probably damaging Het
Uimc1 A G 13: 55,223,330 (GRCm39) L314P probably damaging Het
Usp17le C T 7: 104,418,645 (GRCm39) E166K probably damaging Het
Vmn2r92 G A 17: 18,372,312 (GRCm39) D41N probably benign 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
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
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'- GGTACAACTGCTCCCCTAAC -3'
(R):5'- TCATGGATCCCAGGGTGAAAG -3'

Sequencing Primer
(F):5'- GTACAACTGCTCCCCTAACTGTCC -3'
(R):5'- ACTCCCAAGTGGTCCTCTC -3'
Posted On 2016-06-21