Mutagenetix > Incidental Mutation

Incidental Mutation 'R9213:Safb2'

699031

Institutional Source

Beutler Lab

Gene Symbol

Safb2

Ensembl Gene

ENSMUSG00000042625

Gene Name

scaffold attachment factor B2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R9213 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56867965-56891585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56882602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 344 (T344S)

Ref Sequence

ENSEMBL: ENSMUSP00000074953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000131056] [ENSMUST00000133604] [ENSMUST00000144255] [ENSMUST00000155983]

AlphaFold

Q80YR5

Predicted Effect

probably benign
Transcript: ENSMUST00000075510
AA Change: T344S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: T344S

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

probably benign
Transcript: ENSMUST00000131056

SMART Domains

Protein: ENSMUSP00000120750
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	A	13: 104,581,440 (GRCm39)	C852S	probably damaging	Het
Arf1	A	G	11: 59,104,186 (GRCm39)	V43A	probably damaging	Het
Arhgef26	T	A	3: 62,340,000 (GRCm39)	M674K	probably benign	Het
Asb1	A	C	1: 91,482,531 (GRCm39)	K314N	probably damaging	Het
Aste1	T	C	9: 105,274,294 (GRCm39)	F178S	probably damaging	Het
Avl9	T	C	6: 56,720,441 (GRCm39)	F493S	probably damaging	Het
BC024139	T	C	15: 76,009,422 (GRCm39)	Y220C	probably benign	Het
Ccdc60	T	C	5: 116,328,185 (GRCm39)	E93G	probably damaging	Het
Cep112	A	G	11: 108,377,779 (GRCm39)	H295R	probably benign	Het
Chd3	T	C	11: 69,255,628 (GRCm39)	K87E	possibly damaging	Het
Chordc1	G	T	9: 18,223,789 (GRCm39)		probably null	Het
Ciita	A	T	16: 10,319,742 (GRCm39)	D55V	probably damaging	Het
Cklf	T	C	8: 104,988,125 (GRCm39)	V86A	probably damaging	Het
Clock	T	A	5: 76,393,376 (GRCm39)	N189I	possibly damaging	Het
Dnah14	T	C	1: 181,444,205 (GRCm39)		probably null	Het
Dpep3	C	G	8: 106,700,245 (GRCm39)	C487S	probably benign	Het
Dtwd2	A	G	18: 49,856,799 (GRCm39)	F163L	probably benign	Het
Eln	C	T	5: 134,735,456 (GRCm39)	V776M	unknown	Het
Fanci	T	A	7: 79,055,971 (GRCm39)	M201K	possibly damaging	Het
Frmd4a	A	G	2: 4,608,372 (GRCm39)	T747A	probably damaging	Het
Galnt9	T	A	5: 110,767,108 (GRCm39)	C526*	probably null	Het
Garnl3	T	C	2: 32,895,080 (GRCm39)	E663G	probably damaging	Het
Gdpd5	T	C	7: 99,100,945 (GRCm39)	S247P	probably damaging	Het
Gm4846	C	T	1: 166,322,142 (GRCm39)	D142N	probably damaging	Het
Kbtbd2	T	A	6: 56,756,917 (GRCm39)	E273V	probably damaging	Het
Klk1b11	A	G	7: 43,648,428 (GRCm39)	E145G	possibly damaging	Het
Mmp1a	G	T	9: 7,475,364 (GRCm39)	V378F	possibly damaging	Het
Mon2	G	T	10: 122,872,016 (GRCm39)	S336*	probably null	Het
Mrgprh	T	A	17: 13,095,917 (GRCm39)	N52K	probably damaging	Het
Myo9a	T	C	9: 59,772,922 (GRCm39)	F985L	probably benign	Het
Nek3	T	C	8: 22,638,677 (GRCm39)	N207S	probably benign	Het
Nkpd1	A	G	7: 19,258,009 (GRCm39)	D596G	probably damaging	Het
Oc90	C	A	15: 65,761,557 (GRCm39)	E154*	probably null	Het
Or8b101	T	A	9: 38,020,426 (GRCm39)	M143K	possibly damaging	Het
Or8b3	C	A	9: 38,315,047 (GRCm39)	Y292*	probably null	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,358,874 (GRCm39)	Y361C	probably damaging	Het
Polr2h	T	C	16: 20,539,285 (GRCm39)	Y90H	possibly damaging	Het
Potefam1	T	A	2: 111,020,699 (GRCm39)	R136S	unknown	Het
Ppp1r26	A	G	2: 28,343,649 (GRCm39)	N1093S	probably benign	Het
Prex1	G	T	2: 166,417,669 (GRCm39)	R1313S	probably damaging	Het
Ptprh	A	T	7: 4,583,911 (GRCm39)	V227E	probably damaging	Het
Pycr2	A	G	1: 180,733,473 (GRCm39)	D58G	probably benign	Het
Rad54b	G	T	4: 11,609,321 (GRCm39)	E591*	probably null	Het
Rptor	T	C	11: 119,494,765 (GRCm39)	S44P	probably benign	Het
Samd9l	T	C	6: 3,376,856 (GRCm39)	E135G	probably benign	Het
Sec23a	A	T	12: 59,048,708 (GRCm39)	I167N	probably damaging	Het
Shoc2	C	T	19: 54,016,231 (GRCm39)	T415I	probably benign	Het
Sobp	T	C	10: 42,898,374 (GRCm39)	I404V	probably benign	Het
Ssbp4	G	T	8: 71,052,395 (GRCm39)	L147I	probably benign	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Syt14	A	G	1: 192,612,814 (GRCm39)	V379A	probably damaging	Het
Tat	T	G	8: 110,722,820 (GRCm39)	I294S	probably damaging	Het
Tcf19	A	G	17: 35,825,899 (GRCm39)	V86A	probably damaging	Het
Tfap2a	T	A	13: 40,870,875 (GRCm39)	I338F	possibly damaging	Het
Tmco6	C	A	18: 36,872,384 (GRCm39)	N365K	probably damaging	Het
Tmub2	G	A	11: 102,178,475 (GRCm39)	R164K		Het
Togaram1	A	G	12: 65,065,906 (GRCm39)	I1637V	possibly damaging	Het
Wdr49	A	C	3: 75,205,419 (GRCm39)	S666A	probably benign	Het
Ybx1	T	A	4: 119,138,794 (GRCm39)	Y236F	possibly damaging	Het
Zfhx3	T	A	8: 109,676,756 (GRCm39)	I2602N	probably benign	Het

Other mutations in Safb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Safb2	APN	17	56,878,208 (GRCm39)	critical splice donor site	probably null
IGL00954:Safb2	APN	17	56,885,639 (GRCm39)	critical splice donor site	probably null
IGL01085:Safb2	APN	17	56,872,242 (GRCm39)	nonsense	probably null
IGL03073:Safb2	APN	17	56,878,289 (GRCm39)	missense	probably benign	0.06
R0748:Safb2	UTSW	17	56,882,580 (GRCm39)	missense	probably benign	0.30
R1297:Safb2	UTSW	17	56,891,265 (GRCm39)	unclassified	probably benign
R1876:Safb2	UTSW	17	56,883,909 (GRCm39)	splice site	probably null
R2921:Safb2	UTSW	17	56,875,906 (GRCm39)	missense	possibly damaging	0.46
R3966:Safb2	UTSW	17	56,882,356 (GRCm39)	missense	probably null	1.00
R5140:Safb2	UTSW	17	56,884,901 (GRCm39)	missense	probably benign	0.01
R5484:Safb2	UTSW	17	56,882,346 (GRCm39)	intron	probably benign
R5542:Safb2	UTSW	17	56,882,647 (GRCm39)	missense	probably damaging	0.97
R5602:Safb2	UTSW	17	56,882,630 (GRCm39)	missense	possibly damaging	0.65
R5801:Safb2	UTSW	17	56,870,103 (GRCm39)	missense	possibly damaging	0.96
R5864:Safb2	UTSW	17	56,873,491 (GRCm39)	unclassified	probably benign
R5985:Safb2	UTSW	17	56,870,181 (GRCm39)	missense	possibly damaging	0.72
R6060:Safb2	UTSW	17	56,870,246 (GRCm39)	splice site	probably null
R6279:Safb2	UTSW	17	56,870,226 (GRCm39)	missense	possibly damaging	0.53
R6300:Safb2	UTSW	17	56,870,226 (GRCm39)	missense	possibly damaging	0.53
R6411:Safb2	UTSW	17	56,878,289 (GRCm39)	missense	probably benign	0.06
R6555:Safb2	UTSW	17	56,889,982 (GRCm39)	critical splice donor site	probably null
R6555:Safb2	UTSW	17	56,874,600 (GRCm39)	missense	probably damaging	1.00
R7039:Safb2	UTSW	17	56,871,594 (GRCm39)	missense	possibly damaging	0.82
R7515:Safb2	UTSW	17	56,889,982 (GRCm39)	critical splice donor site	probably null
R7796:Safb2	UTSW	17	56,873,327 (GRCm39)	missense	possibly damaging	0.53
R8186:Safb2	UTSW	17	56,873,051 (GRCm39)	missense	possibly damaging	0.91
R8361:Safb2	UTSW	17	56,890,061 (GRCm39)	missense	probably damaging	0.99
R8918:Safb2	UTSW	17	56,882,975 (GRCm39)	nonsense	probably null
R8998:Safb2	UTSW	17	56,870,391 (GRCm39)	missense	possibly damaging	0.53
R9025:Safb2	UTSW	17	56,873,614 (GRCm39)	missense	probably damaging	0.99
R9176:Safb2	UTSW	17	56,878,292 (GRCm39)	utr 3 prime	probably benign
R9183:Safb2	UTSW	17	56,878,292 (GRCm39)	utr 3 prime	probably benign
R9184:Safb2	UTSW	17	56,878,292 (GRCm39)	utr 3 prime	probably benign
R9522:Safb2	UTSW	17	56,873,900 (GRCm39)	missense	probably damaging	1.00
X0066:Safb2	UTSW	17	56,872,978 (GRCm39)	missense	probably benign	0.29
Z1186:Safb2	UTSW	17	56,870,246 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGCTGAGGACTCTTTAGGAG -3'
(R):5'- GATTTAGCTTTGGCCAGCAG -3'

Sequencing Primer
(F):5'- CAGGGACGTCATTACAAGCGTC -3'
(R):5'- GCAGCAAGTCTGAGTCTCCAAG -3'

Posted On

2022-02-07