Mutagenetix > Incidental Mutation

Incidental Mutation 'R5801:Safb2'

448380

Institutional Source

Beutler Lab

Gene Symbol

Safb2

Ensembl Gene

ENSMUSG00000042625

Gene Name

scaffold attachment factor B2

Synonyms

MMRRC Submission

043390-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R5801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56867965-56891585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56870103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 991 (Y991C)

Ref Sequence

ENSEMBL: ENSMUSP00000074953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075510] [ENSMUST00000131056] [ENSMUST00000142940] [ENSMUST00000144255] [ENSMUST00000154991]

AlphaFold

Q80YR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075510
AA Change: Y991C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074953
Gene: ENSMUSG00000042625
AA Change: Y991C

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: ENSMUST00000124111

SMART Domains

Protein: ENSMUSP00000120845
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
low complexity region	59	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127947

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: ENSMUST00000142752

SMART Domains

Protein: ENSMUSP00000119141
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
low complexity region	42	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142940

SMART Domains

Protein: ENSMUSP00000123229
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
coiled coil region	22	136	N/A	INTRINSIC
low complexity region	162	179	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

noncoding transcript
Transcript: ENSMUST00000156640

SMART Domains

Protein: ENSMUSP00000118127
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
low complexity region	62	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154991

SMART Domains

Protein: ENSMUSP00000117696
Gene: ENSMUSG00000042625

Domain	Start	End	E-Value	Type
coiled coil region	23	137	N/A	INTRINSIC
low complexity region	163	180	N/A	INTRINSIC

Meta Mutation Damage Score

0.2509

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	T	A	4: 144,430,206 (GRCm39)	D261V	probably damaging	Het
Adam15	C	T	3: 89,249,668 (GRCm39)	V667I	probably damaging	Het
Adamts14	T	C	10: 61,038,775 (GRCm39)	S912G	probably damaging	Het
Adamts20	C	A	15: 94,245,551 (GRCm39)	E584*	probably null	Het
Ago3	A	T	4: 126,265,561 (GRCm39)	N284K	possibly damaging	Het
Alx3	T	A	3: 107,512,257 (GRCm39)	Y298*	probably null	Het
Arhgap32	A	G	9: 32,167,084 (GRCm39)	I574V	probably benign	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Caskin2	T	C	11: 115,694,299 (GRCm39)	D400G	probably damaging	Het
Cdc73	T	A	1: 143,484,281 (GRCm39)	H525L	probably benign	Het
Cep135	A	G	5: 76,778,523 (GRCm39)	E674G	probably damaging	Het
Cic	G	A	7: 24,970,863 (GRCm39)	R198Q	possibly damaging	Het
Col5a2	T	C	1: 45,428,641 (GRCm39)		probably null	Het
Col6a5	A	G	9: 105,825,566 (GRCm39)	V9A	unknown	Het
Cpsf7	A	T	19: 10,516,996 (GRCm39)	D366V	probably benign	Het
Cuedc2	T	C	19: 46,319,796 (GRCm39)	E173G	probably damaging	Het
D5Ertd579e	T	C	5: 36,761,913 (GRCm39)	E1318G	probably damaging	Het
Ddx55	T	C	5: 124,704,560 (GRCm39)		probably null	Het
Dennd1b	T	A	1: 138,967,727 (GRCm39)		probably null	Het
Dpy19l3	T	C	7: 35,424,723 (GRCm39)	T111A	probably benign	Het
Edn1	C	A	13: 42,460,282 (GRCm39)	A179E	probably benign	Het
Eif2b1	T	C	5: 124,712,775 (GRCm39)		probably null	Het
Epha5	A	G	5: 84,479,085 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,783 (GRCm39)	N466I	probably damaging	Het
Ermp1	A	G	19: 29,590,228 (GRCm39)	F825L	probably damaging	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fbxo41	G	T	6: 85,461,515 (GRCm39)	F64L	probably damaging	Het
Gabrb2	T	C	11: 42,312,216 (GRCm39)	S14P	probably benign	Het
Gm6505	A	T	3: 28,819,116 (GRCm39)		noncoding transcript	Het
Ighv1-18	T	A	12: 114,646,328 (GRCm39)	D91V	probably damaging	Het
Imp3	A	G	9: 56,845,086 (GRCm39)	D99G	probably benign	Het
Iqub	T	C	6: 24,449,768 (GRCm39)	K699R	probably benign	Het
Itpk1	A	G	12: 102,540,204 (GRCm39)	V293A	probably damaging	Het
Lrrc49	A	T	9: 60,509,916 (GRCm39)	F157L	probably damaging	Het
Mapk1ip1	T	A	7: 138,438,239 (GRCm39)	T64S	possibly damaging	Het
Mrpl9	T	C	3: 94,355,103 (GRCm39)	L225P	possibly damaging	Het
Ms4a14	A	G	19: 11,279,150 (GRCm39)	L1136S	possibly damaging	Het
Ms4a14	A	T	19: 11,279,246 (GRCm39)	I1104K	possibly damaging	Het
Nkain2	T	C	10: 32,278,264 (GRCm39)	T54A	probably damaging	Het
Ociad2	A	G	5: 73,483,642 (GRCm39)	F60S	probably damaging	Het
Or1e1f	T	C	11: 73,855,772 (GRCm39)	F113L	probably benign	Het
Polk	T	A	13: 96,620,094 (GRCm39)	H723L	probably damaging	Het
Prickle4	C	A	17: 47,999,698 (GRCm39)	R285L	possibly damaging	Het
Psmd2	A	G	16: 20,473,672 (GRCm39)	N121S	probably damaging	Het
Rab11fip5	T	A	6: 85,314,582 (GRCm39)	S1212C	probably damaging	Het
Rasgef1c	T	G	11: 49,860,883 (GRCm39)	M266R	probably damaging	Het
Rpusd4	A	G	9: 35,181,369 (GRCm39)	E155G	possibly damaging	Het
Rrbp1	A	G	2: 143,831,703 (GRCm39)	S155P	probably damaging	Het
Shank1	G	A	7: 44,006,240 (GRCm39)	E1986K	possibly damaging	Het
Slc22a14	A	G	9: 119,001,149 (GRCm39)	F482L	probably benign	Het
Slc35e3	T	A	10: 117,581,767 (GRCm39)	M109L	probably benign	Het
Slco4c1	T	C	1: 96,799,809 (GRCm39)	N9S	probably damaging	Het
Slco6b1	C	T	1: 96,875,356 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,920,613 (GRCm39)		probably null	Het
Sptlc2	T	C	12: 87,388,545 (GRCm39)		probably null	Het
Stk10	C	T	11: 32,546,748 (GRCm39)	P335L	probably benign	Het
Strip1	A	C	3: 107,528,757 (GRCm39)	L391R	possibly damaging	Het
Tacr1	T	A	6: 82,534,134 (GRCm39)	S387T	probably benign	Het
Thbs2	A	T	17: 14,908,125 (GRCm39)	F213I	probably damaging	Het
Thbs3	A	T	3: 89,131,704 (GRCm39)	Y692F	probably benign	Het
Tktl2	C	A	8: 66,966,299 (GRCm39)	A619E	probably benign	Het
Tmc3	A	T	7: 83,271,686 (GRCm39)	E946V	possibly damaging	Het
Tmem132d	A	G	5: 127,861,964 (GRCm39)	V719A	possibly damaging	Het
Trpa1	T	C	1: 14,968,302 (GRCm39)	H488R	probably damaging	Het
Tsfm	TCACTCC	TCACTCCACTCC	10: 126,858,706 (GRCm39)		probably null	Het
Wdr35	A	G	12: 9,056,723 (GRCm39)	T503A	possibly damaging	Het
Zfp109	T	C	7: 23,928,126 (GRCm39)	K436E	probably damaging	Het
Zfp423	A	G	8: 88,585,990 (GRCm39)	Y78H	probably damaging	Het
Zfp970	A	G	2: 177,165,151 (GRCm39)	K26E	probably damaging	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
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
R9213:Safb2	UTSW	17	56,882,602 (GRCm39)	missense	probably benign	0.01
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'- GCTGCAGCCACAAGAATAGG -3'
(R):5'- GGCCCTTGCAAACTATCTGC -3'

Sequencing Primer
(F):5'- TGCCTGGCAGCAGAAAC -3'
(R):5'- CCTTTGTTCTAGGCAAGGCAGC -3'

Posted On

2016-12-15