Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Satb2'

630033

Institutional Source

Beutler Lab

Gene Symbol

Satb2

Ensembl Gene

ENSMUSG00000038331

Gene Name

special AT-rich sequence binding protein 2

Synonyms

BAP002

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56833140-57017809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56870623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 572 (V572D)

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: V513D

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: V513D

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

possibly damaging
Transcript: ENSMUST00000114415
AA Change: V572D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: V572D

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

probably damaging
Transcript: ENSMUST00000177424
AA Change: V454D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: V454D

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.0%

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 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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,329,824 (GRCm39)	L93H	unknown	Het
A2ml1	A	G	6: 128,549,045 (GRCm39)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,750,413 (GRCm39)	C658F		Het
Arid2	T	G	15: 96,266,592 (GRCm39)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,143,170 (GRCm39)	D46E	probably damaging	Het
Brca2	T	A	5: 150,459,634 (GRCm39)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,498,260 (GRCm39)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,030,445 (GRCm39)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,437,516 (GRCm39)	S340F	probably damaging	Het
Camta2	A	G	11: 70,576,903 (GRCm39)	W41R	probably damaging	Het
Cbl	A	T	9: 44,074,696 (GRCm39)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,488,864 (GRCm39)	D1208E	probably benign	Het
Cd177	A	T	7: 24,443,842 (GRCm39)	M752K	probably damaging	Het
Cep290	A	T	10: 100,380,793 (GRCm39)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,668,698 (GRCm39)	I206F	probably damaging	Het
Cyp2c40	A	G	19: 39,791,009 (GRCm39)	L274S	probably benign	Het
Cyp2c40	T	A	19: 39,791,015 (GRCm39)	Y272F	probably benign	Het
Cyp2d22	C	A	15: 82,258,556 (GRCm39)	A102S	probably benign	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dchs2	T	C	3: 83,262,929 (GRCm39)	F3066L	probably benign	Het
Disp1	C	A	1: 182,869,192 (GRCm39)	R1076L	probably damaging	Het
Dkk2	C	T	3: 131,791,801 (GRCm39)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,165,964 (GRCm39)	F543S	probably benign	Het
Dpt	A	T	1: 164,624,481 (GRCm39)	S61C	probably damaging	Het
Drg2	A	T	11: 60,353,096 (GRCm39)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,228,040 (GRCm39)	L1878V	possibly damaging	Het
F5	A	G	1: 164,036,509 (GRCm39)	Y1890C	probably benign	Het
Fat1	T	C	8: 45,405,739 (GRCm39)	V830A	probably damaging	Het
Fat2	C	T	11: 55,186,965 (GRCm39)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,983,618 (GRCm39)	Y322C	probably benign	Het
Fcsk	A	G	8: 111,622,604 (GRCm39)	F108S	probably damaging	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Gabrb2	A	G	11: 42,488,370 (GRCm39)	I279V	probably damaging	Het
Galk2	T	C	2: 125,773,189 (GRCm39)	F207S	probably damaging	Het
Gtpbp3	C	T	8: 71,941,480 (GRCm39)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,714,446 (GRCm39)	D460V	probably benign	Het
Herc1	G	A	9: 66,400,462 (GRCm39)	V4329I	probably damaging	Het
Iqcn	T	C	8: 71,162,067 (GRCm39)	V420A	probably benign	Het
Kirrel3	G	A	9: 34,946,460 (GRCm39)	V740M	probably damaging	Het
Macf1	C	A	4: 123,263,660 (GRCm39)	V6956L	probably damaging	Het
Mill1	C	T	7: 17,989,835 (GRCm39)	A39V	probably benign	Het
Mkln1	T	A	6: 31,469,588 (GRCm39)	Y599*	probably null	Het
Mrpl14	T	A	17: 46,009,039 (GRCm39)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,119,418 (GRCm39)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndst2	A	T	14: 20,778,232 (GRCm39)	V449D	probably damaging	Het
Nell1	T	A	7: 49,770,335 (GRCm39)	H131Q	probably benign	Het
Nos3	G	C	5: 24,572,218 (GRCm39)	R97P	probably benign	Het
Npc1	A	T	18: 12,327,297 (GRCm39)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,249,802 (GRCm39)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1j1	A	T	2: 36,702,330 (GRCm39)	L258H	probably damaging	Het
Or4c110	T	C	2: 88,832,712 (GRCm39)		probably benign	Het
Or5b98	A	T	19: 12,931,366 (GRCm39)	T138S	probably benign	Het
Or6c210	A	G	10: 129,495,933 (GRCm39)	D86G	probably damaging	Het
Osmr	T	C	15: 6,845,102 (GRCm39)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,010,301 (GRCm39)	I74V	possibly damaging	Het
Pakap	A	G	4: 57,886,319 (GRCm39)	T859A	possibly damaging	Het
Phldb3	C	A	7: 24,326,134 (GRCm39)	A572D	probably damaging	Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,735,947 (GRCm39)	E674G	probably benign	Het
Ptpru	G	A	4: 131,520,903 (GRCm39)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,829,631 (GRCm39)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,333,448 (GRCm39)	R1429*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnpep	A	T	1: 135,211,514 (GRCm39)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,027,791 (GRCm39)	I394F	probably damaging	Het
Sds	T	C	5: 120,617,001 (GRCm39)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,595,032 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,056,300 (GRCm39)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,840,609 (GRCm39)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm39)	F136V	probably benign	Het
Slfn14	T	A	11: 83,174,119 (GRCm39)	K291*	probably null	Het
Sp100	A	G	1: 85,624,819 (GRCm39)	K403E	possibly damaging	Het
Spaca1	C	T	4: 34,049,837 (GRCm39)	E54K	possibly damaging	Het
Sympk	T	G	7: 18,787,373 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,067,031 (GRCm39)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,677,772 (GRCm39)	I67L	probably benign	Het
Tha1	T	C	11: 117,759,323 (GRCm39)	K389E	probably benign	Het
Thbs2	T	A	17: 14,900,584 (GRCm39)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,679,218 (GRCm39)		probably null	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,149,564 (GRCm39)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,168,007 (GRCm39)	S1507P	probably damaging	Het
Uckl1	A	G	2: 181,215,049 (GRCm39)	I268T	probably damaging	Het
Uvrag	T	C	7: 98,641,174 (GRCm39)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,250,483 (GRCm39)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,626 (GRCm39)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,669,052 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,135,154 (GRCm39)	C187S	possibly damaging	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
R7811:Satb2	UTSW	1	56,884,880 (GRCm39)	missense	probably benign	0.19
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
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'- CCTGCTGTCAGAAGAGCCATTG -3'
(R):5'- GCCCATATAGCTGCTGAACAC -3'

Sequencing Primer
(F):5'- TCAGAAGAGCCATTGTCATTGGC -3'
(R):5'- TATAGCTGCTGAACACCCTGC -3'

Posted On

2020-06-30