Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:Safb'

633883

Institutional Source

Beutler Lab

Gene Symbol

Safb

Ensembl Gene

ENSMUSG00000071054

Gene Name

scaffold attachment factor B

Synonyms

5330423C17Rik, SAFB1, 3110021E02Rik

MMRRC Submission

067593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56891982-56913294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56892286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000138277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000095224] [ENSMUST00000133604] [ENSMUST00000144255] [ENSMUST00000155983] [ENSMUST00000182533] [ENSMUST00000182800]

AlphaFold

D3YXK2

Predicted Effect

probably benign
Transcript: ENSMUST00000075510

SMART Domains

Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000095224
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000092849
Gene: ENSMUSG00000071054
AA Change: E42G

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

probably benign
Transcript: ENSMUST00000133604

SMART Domains

Protein: ENSMUSP00000119324
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
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: ENSMUST00000144255

SMART Domains

Protein: ENSMUSP00000123673
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
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: ENSMUST00000155983

SMART Domains

Protein: ENSMUSP00000116363
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000182533
AA Change: E42G

SMART Domains

Protein: ENSMUSP00000138277
Gene: ENSMUSG00000071054
AA Change: E42G

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

probably benign
Transcript: ENSMUST00000182951

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Cblb	T	A	16: 51,986,365 (GRCm39)	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,917 (GRCm39)	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
H2-D1	A	G	17: 35,485,741 (GRCm39)	T89A		Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,392,957 (GRCm39)	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,500,877 (GRCm39)	S69P	possibly damaging	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	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
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
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'- TGGTAAGAGGGCCGAGATTC -3'
(R):5'- AGATTCGAATCCTTGCACCC -3'

Sequencing Primer
(F):5'- TCACGCAAACCCACTGAC -3'
(R):5'- GCGGAGCCCCAGTATTA -3'

Posted On

2020-07-13