Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Satb2'

601142

Institutional Source

Beutler Lab

Gene Symbol

Satb2

Ensembl Gene

ENSMUSG00000038331

Gene Name

special AT-rich sequence binding protein 2

Synonyms

BAP002

MMRRC Submission

045866-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56833140-57017809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56884880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 466 (S466L)

Ref Sequence

ENSEMBL: ENSMUSP00000110057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042857] [ENSMUST00000114415] [ENSMUST00000177424]

AlphaFold

Q8VI24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042857
AA Change: S407L

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: S407L

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	45	98	8e-19	PDB
PDB:3NZL\|A	106	174	4e-35	PDB
low complexity region	235	251	N/A	INTRINSIC
CUT	292	378	1.3e-36	SMART
low complexity region	381	399	N/A	INTRINSIC
CUT	415	501	3.58e-39	SMART
low complexity region	510	524	N/A	INTRINSIC
low complexity region	533	551	N/A	INTRINSIC
HOX	555	618	1.06e-7	SMART
low complexity region	629	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114415
AA Change: S466L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: S466L

Domain	Start	End	E-Value	Type
Pfam:ULD	58	156	1.7e-39	PFAM
Pfam:CUTL	162	233	3.9e-46	PFAM
low complexity region	294	310	N/A	INTRINSIC
CUT	351	437	1.3e-36	SMART
low complexity region	440	458	N/A	INTRINSIC
CUT	474	560	3.58e-39	SMART
low complexity region	569	583	N/A	INTRINSIC
low complexity region	592	610	N/A	INTRINSIC
HOX	614	677	1.06e-7	SMART
low complexity region	688	709	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177424
AA Change: S348L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: S348L

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	57	115	6e-23	PDB
low complexity region	176	192	N/A	INTRINSIC
CUT	233	319	1.3e-36	SMART
low complexity region	322	340	N/A	INTRINSIC
CUT	356	442	3.58e-39	SMART
low complexity region	451	465	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC
HOX	496	559	1.06e-7	SMART
low complexity region	570	591	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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 that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Anxa7	A	T	14: 20,510,254 (GRCm39)	Y399N	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Bpifb1	T	A	2: 154,048,484 (GRCm39)		probably null	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Ccdc188	A	G	16: 18,036,314 (GRCm39)	E94G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Eya3	T	C	4: 132,439,272 (GRCm39)	I466T	possibly damaging	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Gbx1	T	C	5: 24,710,035 (GRCm39)	E270G	probably damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	Het

Other mutations in Satb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Satb2	APN	1	56,870,700 (GRCm39)	missense	possibly damaging	0.56
IGL02008:Satb2	APN	1	56,835,952 (GRCm39)	missense	possibly damaging	0.70
IGL02209:Satb2	APN	1	56,910,677 (GRCm39)	missense	probably damaging	1.00
IGL02956:Satb2	APN	1	56,987,334 (GRCm39)	missense	probably damaging	0.99
IGL03214:Satb2	APN	1	56,884,739 (GRCm39)	missense	probably damaging	1.00
IGL03272:Satb2	APN	1	56,884,802 (GRCm39)	missense	probably damaging	1.00
IGL03356:Satb2	APN	1	56,930,333 (GRCm39)	missense	probably damaging	1.00
Optimism	UTSW	1	56,884,880 (GRCm39)	nonsense	probably null
prophecy	UTSW	1	56,884,778 (GRCm39)	missense	probably damaging	1.00
R0990:Satb2	UTSW	1	56,889,343 (GRCm39)	missense	probably damaging	0.96
R1534:Satb2	UTSW	1	56,987,392 (GRCm39)	nonsense	probably null
R1711:Satb2	UTSW	1	56,889,448 (GRCm39)	missense	probably damaging	0.99
R1952:Satb2	UTSW	1	56,938,229 (GRCm39)	missense	probably damaging	1.00
R2404:Satb2	UTSW	1	56,987,267 (GRCm39)	missense	probably damaging	1.00
R3792:Satb2	UTSW	1	56,884,779 (GRCm39)	missense	probably damaging	1.00
R3870:Satb2	UTSW	1	56,930,379 (GRCm39)	missense	probably damaging	1.00
R3871:Satb2	UTSW	1	56,930,379 (GRCm39)	missense	probably damaging	1.00
R4333:Satb2	UTSW	1	56,884,745 (GRCm39)	missense	probably damaging	1.00
R4621:Satb2	UTSW	1	56,884,778 (GRCm39)	missense	probably damaging	1.00
R4962:Satb2	UTSW	1	56,930,327 (GRCm39)	missense	probably benign	0.25
R5296:Satb2	UTSW	1	56,836,066 (GRCm39)	missense	probably damaging	0.99
R5314:Satb2	UTSW	1	56,870,686 (GRCm39)	missense	probably damaging	0.99
R5407:Satb2	UTSW	1	56,987,309 (GRCm39)	missense	probably damaging	1.00
R5925:Satb2	UTSW	1	56,836,097 (GRCm39)	missense	possibly damaging	0.80
R6355:Satb2	UTSW	1	56,987,356 (GRCm39)	missense	probably damaging	1.00
R6634:Satb2	UTSW	1	56,884,880 (GRCm39)	nonsense	probably null
R6645:Satb2	UTSW	1	56,836,166 (GRCm39)	missense	possibly damaging	0.51
R7578:Satb2	UTSW	1	56,910,943 (GRCm39)	missense	probably benign	0.01
R7694:Satb2	UTSW	1	56,910,683 (GRCm39)	missense	probably benign
R7961:Satb2	UTSW	1	56,910,917 (GRCm39)	missense	probably benign	0.01
R8009:Satb2	UTSW	1	56,910,917 (GRCm39)	missense	probably benign	0.01
R8023:Satb2	UTSW	1	56,930,390 (GRCm39)	missense	probably damaging	1.00
R8094:Satb2	UTSW	1	56,870,623 (GRCm39)	missense	possibly damaging	0.95
R8745:Satb2	UTSW	1	57,008,796 (GRCm39)	missense	unknown
R8960:Satb2	UTSW	1	56,910,470 (GRCm39)	critical splice donor site	probably null
R9382:Satb2	UTSW	1	56,870,797 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCAGAACATGATGGGCTC -3'
(R):5'- AGCTACCAGGCTACTGTGAG -3'

Sequencing Primer
(F):5'- GCTCCCCAGGGGTTATTACTG -3'
(R):5'- CAAGAGCGGACAGGATTCTG -3'

Posted On

2019-11-26