Incidental Mutation 'R5985:Safb2'
ID481627
Institutional Source Beutler Lab
Gene Symbol Safb2
Ensembl Gene ENSMUSG00000042625
Gene Namescaffold attachment factor B2
Synonyms
MMRRC Submission 044165-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.545) question?
Stock #R5985 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location56560965-56584585 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56563181 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 965 (E965G)
Ref Sequence ENSEMBL: ENSMUSP00000074953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000131056] [ENSMUST00000142940] [ENSMUST00000144255] [ENSMUST00000154991]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075510
AA Change: E965G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: E965G

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156640
SMART Domains Protein: ENSMUSP00000118127
Gene: ENSMUSG00000042625

DomainStartEndE-ValueType
low complexity region 62 86 N/A INTRINSIC
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
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
9130011E15Rik A T 19: 45,820,324 Y643N probably damaging Het
Abca13 A C 11: 9,291,628 I1164L probably benign Het
Actn1 C A 12: 80,168,395 G864V probably damaging Het
Adgrf1 T C 17: 43,293,255 I34T probably benign Het
Ankrd10 T A 8: 11,619,077 K225* probably null Het
Ankrd29 G A 18: 12,279,775 A115V probably damaging Het
Atg2a A G 19: 6,254,637 T1175A probably damaging Het
Atp12a A G 14: 56,384,341 D781G probably damaging Het
B4galnt3 G A 6: 120,210,158 P759S probably damaging Het
Card10 T C 15: 78,791,211 I448V probably benign Het
Col15a1 T C 4: 47,284,507 F821L probably damaging Het
Cpeb3 T C 19: 37,087,552 Y498C probably damaging Het
Defb37 A T 8: 18,986,331 C58S probably damaging Het
Faap20 T C 4: 155,250,340 probably benign Het
Frem1 C T 4: 82,966,050 V1204I probably benign Het
Gal3st2 T C 1: 93,873,613 V46A possibly damaging Het
Gan C T 8: 117,195,818 S430L possibly damaging Het
Gas2 T A 7: 51,943,676 I168K probably damaging Het
Gli3 A G 13: 15,723,555 D740G probably damaging Het
Gm15922 C A 7: 3,737,317 G302C probably damaging Het
Gm3898 G A 9: 43,830,032 noncoding transcript Het
Gria4 T C 9: 4,503,593 Q341R probably damaging Het
Herpud1 G A 8: 94,390,794 R2Q probably damaging Het
Klf15 G A 6: 90,466,721 G93R possibly damaging Het
Mtmr7 A G 8: 40,551,832 F568L probably benign Het
Myod1 A G 7: 46,377,798 Y229C probably damaging Het
Olfr1150-ps1 A G 2: 87,357,605 I54V probably benign Het
Olfr1156 A G 2: 87,949,321 M304T probably benign Het
Phf11b A G 14: 59,321,578 L235P possibly damaging Het
Plekha6 G C 1: 133,272,307 R208P possibly damaging Het
Prox1 A T 1: 190,146,955 F675L possibly damaging Het
Rnf144a C T 12: 26,317,780 E176K probably benign Het
Sik3 A G 9: 46,211,675 N874S probably damaging Het
Slitrk3 T C 3: 73,050,900 I180V probably damaging Het
Speg T C 1: 75,406,684 V1141A possibly damaging Het
Spns1 G A 7: 126,376,730 T84I probably benign Het
Syne2 C G 12: 75,966,159 P2709R probably damaging Het
Terb1 A G 8: 104,482,316 S377P probably damaging Het
Terb1 A T 8: 104,451,807 S662T probably benign Het
Tph1 A G 7: 46,653,781 Y258H probably damaging Het
Trip12 T A 1: 84,725,771 E1881D probably damaging Het
Trpc7 A G 13: 56,810,545 L412P probably damaging Het
Ttll13 C T 7: 80,254,638 A337V probably damaging Het
Ugt2b1 T C 5: 86,919,668 K344E possibly damaging Het
Vmn1r36 T A 6: 66,716,871 I7F probably benign Het
Vmn2r14 A T 5: 109,220,216 N303K possibly damaging Het
Vmn2r25 A G 6: 123,823,628 V585A probably benign Het
Zan A C 5: 137,446,037 probably null Het
Zfp423 A T 8: 87,782,146 N502K possibly damaging Het
Zfp473 C T 7: 44,733,328 R526Q probably damaging Het
Other mutations in Safb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Safb2 APN 17 56571208 critical splice donor site probably null
IGL00954:Safb2 APN 17 56578639 critical splice donor site probably null
IGL01085:Safb2 APN 17 56565242 nonsense probably null
IGL03073:Safb2 APN 17 56571289 missense probably benign 0.06
R0748:Safb2 UTSW 17 56575580 missense probably benign 0.30
R1297:Safb2 UTSW 17 56584265 unclassified probably benign
R1876:Safb2 UTSW 17 56576909 splice site probably null
R2921:Safb2 UTSW 17 56568906 missense possibly damaging 0.46
R3966:Safb2 UTSW 17 56575356 missense probably null 1.00
R5140:Safb2 UTSW 17 56577901 missense probably benign 0.01
R5484:Safb2 UTSW 17 56575346 intron probably benign
R5542:Safb2 UTSW 17 56575647 missense probably damaging 0.97
R5602:Safb2 UTSW 17 56575630 missense possibly damaging 0.65
R5801:Safb2 UTSW 17 56563103 missense possibly damaging 0.96
R5864:Safb2 UTSW 17 56566491 unclassified probably benign
R6060:Safb2 UTSW 17 56563246 splice site probably null
R6279:Safb2 UTSW 17 56563226 missense possibly damaging 0.53
R6300:Safb2 UTSW 17 56563226 missense possibly damaging 0.53
R6411:Safb2 UTSW 17 56571289 missense probably benign 0.06
R6555:Safb2 UTSW 17 56567600 missense probably damaging 1.00
R6555:Safb2 UTSW 17 56582982 critical splice donor site probably null
R7039:Safb2 UTSW 17 56564594 missense possibly damaging 0.82
R7515:Safb2 UTSW 17 56582982 critical splice donor site probably null
R7796:Safb2 UTSW 17 56566327 missense possibly damaging 0.53
X0066:Safb2 UTSW 17 56565978 missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GTCTTACAAACAGCAGAACAGG -3'
(R):5'- GGTTTCAACGTCTGCCACTG -3'

Sequencing Primer
(F):5'- GAGTTCACATCGACACTTGGCAG -3'
(R):5'- AACGTCTGCCACTGCCTTC -3'
Posted On2017-06-26