Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Safb'

62525

Institutional Source

Beutler Lab

Gene Symbol

Safb

Ensembl Gene

ENSMUSG00000071054

Gene Name

scaffold attachment factor B

Synonyms

5330423C17Rik, SAFB1, 3110021E02Rik

MMRRC Submission

038840-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R0655 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

56891982-56913294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56904803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 209 (S209T)

Ref Sequence

ENSEMBL: ENSMUSP00000092849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095224] [ENSMUST00000182533] [ENSMUST00000182800]

AlphaFold

D3YXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000095224
AA Change: S209T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: S209T

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: ENSMUST00000182031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182378

Predicted Effect

unknown
Transcript: ENSMUST00000182533
AA Change: S209T

SMART Domains

Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: S209T

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

probably benign
Transcript: ENSMUST00000182800

Predicted Effect

unknown
Transcript: ENSMUST00000182951
AA Change: S126T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183041

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or1e34	T	C	11: 73,778,631 (GRCm39)	D189G	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Oscp1	T	C	4: 125,952,526 (GRCm39)	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Selenoo	T	A	15: 88,979,858 (GRCm39)	H335Q	probably damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Trp53inp2	G	T	2: 155,228,088 (GRCm39)	G98*	probably null	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Zbtb9	T	A	17: 27,193,074 (GRCm39)	S160T	probably damaging	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	possibly 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
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
R1971: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'- TGCAAGCTGTGCTCCTGATTTCAAG -3'
(R):5'- TTCTGTTTAAAGGCAGGCGGCGAC -3'

Sequencing Primer
(F):5'- GTTCAGTCCTGAGGGAACTACAC -3'
(R):5'- ATGCCGCACGATTGCTG -3'

Posted On

2013-07-30