Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Safb'

443072

Institutional Source

Beutler Lab

Gene Symbol

Safb

Ensembl Gene

ENSMUSG00000071054

Gene Name

scaffold attachment factor B

Synonyms

5330423C17Rik, SAFB1, 3110021E02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R5681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56891982-56913294 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 56906000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

D3YXK2

Predicted Effect

unknown
Transcript: ENSMUST00000095224
AA Change: E332K

SMART Domains

Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: E332K

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

noncoding transcript
Transcript: ENSMUST00000182461

Predicted Effect

unknown
Transcript: ENSMUST00000182533
AA Change: E332K

SMART Domains

Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: E332K

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: ENSMUST00000182951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183041

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hat1	A	G	2: 71,264,553 (GRCm39)		probably null	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	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
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
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'- TATTTGAGAGCTGCGGCCAC -3'
(R):5'- TCACTGGCTGAGGACTCTTTAG -3'

Sequencing Primer
(F):5'- GCCACCCGGAAGAGGAAG -3'
(R):5'- ACTCTTTAGGAGGCGCAGG -3'

Posted On

2016-11-09