Mutagenetix > Incidental Mutation

Incidental Mutation 'R1971:Safb'

220984

Institutional Source

Beutler Lab

Gene Symbol

Safb

Ensembl Gene

ENSMUSG00000071054

Gene Name

scaffold attachment factor B

Synonyms

5330423C17Rik, SAFB1, 3110021E02Rik

MMRRC Submission

039984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R1971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56891982-56913294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56912821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 883 (H883R)

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

Domain	Start	End	E-Value	Type
Pfam:QIL1	9	108	5.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095224
AA Change: H881R

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: H881R

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000182533
AA Change: H883R

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: H883R

Domain	Start	End	E-Value	Type
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: ENSMUST00000182913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183041

Predicted Effect

probably benign
Transcript: ENSMUST00000182951

Meta Mutation Damage Score

0.0610

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (115/116)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,686,566 (GRCm39)	I242N	probably benign	Het
2510009E07Rik	G	T	16: 21,472,048 (GRCm39)	Y217*	probably null	Het
4931429L15Rik	C	T	9: 46,220,086 (GRCm39)	V149M	probably benign	Het
Abcg8	G	T	17: 85,002,587 (GRCm39)		probably benign	Het
Acox1	A	G	11: 116,089,087 (GRCm39)	F77S	probably benign	Het
Adgrb3	G	T	1: 25,586,525 (GRCm39)	H389Q	probably benign	Het
Ak7	A	G	12: 105,692,504 (GRCm39)	N186S	probably damaging	Het
Apobr	A	G	7: 126,185,397 (GRCm39)	T303A	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Bcl9l	T	C	9: 44,419,996 (GRCm39)		probably null	Het
Bco2	T	C	9: 50,457,284 (GRCm39)	D86G	probably damaging	Het
Bmpr1b	T	A	3: 141,563,333 (GRCm39)	I204F	probably damaging	Het
Bpifb5	C	A	2: 154,072,264 (GRCm39)	Q324K	probably benign	Het
Cacna2d2	G	A	9: 107,389,205 (GRCm39)	V223I	probably damaging	Het
Capn3	A	G	2: 120,311,228 (GRCm39)	D105G	possibly damaging	Het
Ccdc40	G	T	11: 119,153,901 (GRCm39)		probably null	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Ckap2l	A	G	2: 129,127,342 (GRCm39)	S279P	possibly damaging	Het
Cldn12	C	A	5: 5,558,137 (GRCm39)	A97S	probably benign	Het
Clec2l	T	G	6: 38,640,309 (GRCm39)	S47A	probably benign	Het
Csnk1d	C	A	11: 120,863,274 (GRCm39)	R222M	possibly damaging	Het
Ctnna1	T	A	18: 35,287,580 (GRCm39)	D96E	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Dmtf1	T	C	5: 9,198,989 (GRCm39)	E48G	probably benign	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Drd2	T	C	9: 49,318,359 (GRCm39)	F434L	probably damaging	Het
En1	A	G	1: 120,534,742 (GRCm39)	T344A	unknown	Het
Eri3	A	G	4: 117,421,964 (GRCm39)	T81A	probably benign	Het
Fam20a	T	C	11: 109,576,237 (GRCm39)	Y174C	probably damaging	Het
Fam234a	G	C	17: 26,435,629 (GRCm39)		probably null	Het
Fam76a	A	T	4: 132,631,294 (GRCm39)	I217N	probably damaging	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fcgbpl1	C	A	7: 27,830,937 (GRCm39)	A50E	possibly damaging	Het
Foxo3	A	G	10: 42,073,258 (GRCm39)	S420P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Gm136	T	G	4: 34,755,986 (GRCm39)	D9A	probably benign	Het
Gstt2	G	T	10: 75,668,499 (GRCm39)	T116N	probably benign	Het
Hs3st6	A	G	17: 24,972,267 (GRCm39)	T70A	probably benign	Het
Hspa14	A	G	2: 3,490,804 (GRCm39)	V461A	possibly damaging	Het
Itih5	A	T	2: 10,243,379 (GRCm39)	D372V	probably damaging	Het
Kcna2	A	T	3: 107,012,140 (GRCm39)	R240S	probably damaging	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lap3	T	C	5: 45,663,508 (GRCm39)		probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lpin1	A	T	12: 16,630,724 (GRCm39)	L58H	probably damaging	Het
Map4k5	G	T	12: 69,873,102 (GRCm39)	P468Q	possibly damaging	Het
Med31	G	A	11: 72,106,244 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,315,688 (GRCm39)		probably null	Het
Mrc1	G	A	2: 14,249,103 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,359,784 (GRCm39)	I16T	probably damaging	Het
Msh3	T	A	13: 92,386,328 (GRCm39)		probably benign	Het
Mst1r	A	T	9: 107,790,411 (GRCm39)	I675F	probably benign	Het
Myb	A	C	10: 21,016,555 (GRCm39)	S652A	probably benign	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Myl6b	A	G	10: 128,330,512 (GRCm39)	V181A	probably damaging	Het
Myt1l	A	T	12: 29,877,091 (GRCm39)	K247N	unknown	Het
Nanos2	G	T	7: 18,721,629 (GRCm39)	V34L	probably benign	Het
Nav1	T	C	1: 135,460,091 (GRCm39)	T411A	probably benign	Het
Nedd9	T	A	13: 41,492,424 (GRCm39)	I23F	probably damaging	Het
Nes	G	A	3: 87,885,634 (GRCm39)	V1254I	possibly damaging	Het
Nol6	A	G	4: 41,119,542 (GRCm39)	F588S	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Olr1	T	C	6: 129,470,498 (GRCm39)	E223G	probably benign	Het
Or1e30	T	A	11: 73,678,616 (GRCm39)	M284K	probably damaging	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or4c118	A	T	2: 88,975,078 (GRCm39)	C96*	probably null	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or51l4	C	T	7: 103,404,527 (GRCm39)	W88*	probably null	Het
Pate6	T	A	9: 35,700,309 (GRCm39)	H92L	probably benign	Het
Pclo	A	G	5: 14,763,487 (GRCm39)	T3987A	unknown	Het
Pik3cg	A	T	12: 32,242,152 (GRCm39)	V986D	probably damaging	Het
Pitpnm1	T	A	19: 4,162,450 (GRCm39)	D1093E	probably damaging	Het
Ppp1r12b	T	C	1: 134,793,651 (GRCm39)	D571G	probably benign	Het
Rfx1	A	G	8: 84,822,126 (GRCm39)	E875G	probably damaging	Het
Rnf145	T	A	11: 44,439,642 (GRCm39)	I146N	probably damaging	Het
Rttn	G	A	18: 89,108,557 (GRCm39)	R1587H	probably benign	Het
Sdhb	A	G	4: 140,700,260 (GRCm39)	D120G	possibly damaging	Het
Serpine3	A	G	14: 62,902,533 (GRCm39)	N48S	probably damaging	Het
Sgms1	T	A	19: 32,137,357 (GRCm39)	I70L	probably benign	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Smtnl2	C	T	11: 72,302,183 (GRCm39)	A93T	probably benign	Het
Srpra	T	C	9: 35,124,834 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,752,866 (GRCm39)		probably null	Het
Tbc1d10b	A	T	7: 126,807,036 (GRCm39)	V167E	probably benign	Het
Tbc1d9	G	A	8: 83,976,139 (GRCm39)	R566H	probably damaging	Het
Tenm3	A	G	8: 48,689,348 (GRCm39)	Y2080H	probably damaging	Het
Tex14	A	G	11: 87,402,431 (GRCm39)	N506S	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tjp1	G	T	7: 64,973,826 (GRCm39)	T476K	probably damaging	Het
Tlr11	A	T	14: 50,598,691 (GRCm39)	T226S	probably benign	Het
Tmem131	G	A	1: 36,843,680 (GRCm39)	Q1394*	probably null	Het
Tmem161a	C	T	8: 70,629,559 (GRCm39)	R58W	probably damaging	Het
Tmem219	T	C	7: 126,496,422 (GRCm39)	S13G	probably benign	Het
Trp53bp1	T	C	2: 121,035,517 (GRCm39)	Y47C	probably damaging	Het
Ttn	T	A	2: 76,731,922 (GRCm39)		probably benign	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Usp37	A	T	1: 74,479,127 (GRCm39)	Y948*	probably null	Het
Vav1	A	T	17: 57,634,697 (GRCm39)	Y805F	probably damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r2	T	A	3: 64,034,121 (GRCm39)	Y467F	probably damaging	Het
Vps35l	A	C	7: 118,374,557 (GRCm39)	R352S	probably damaging	Het
Vps54	C	A	11: 21,242,051 (GRCm39)	L389I	probably damaging	Het
Vwa8	G	T	14: 79,162,694 (GRCm39)		probably benign	Het
Wdr19	G	T	5: 65,398,503 (GRCm39)		probably benign	Het
Wnt2b	A	T	3: 104,861,933 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,342,039 (GRCm39)	R1427G	possibly damaging	Het
Ylpm1	T	C	12: 85,087,560 (GRCm39)	S1115P	probably damaging	Het
Zfp946	T	A	17: 22,674,406 (GRCm39)	C387S	probably damaging	Het

Other mutations in Safb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01465:Safb	APN	17	56,909,974 (GRCm39)	unclassified	probably benign
IGL02391:Safb	APN	17	56,907,813 (GRCm39)	splice site	probably benign
IGL03145:Safb	APN	17	56,912,287 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGAAGATGACCGGGCATG -3'
(R):5'- AAACTGCCTCGCCTAAGGAG -3'

Sequencing Primer
(F):5'- GGCATGATGGAGCGTGATC -3'
(R):5'- CCTCGCCTAAGGAGAAGCAG -3'

Posted On

2014-08-25