Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Satb2'

346116

Institutional Source

Beutler Lab

Gene Symbol

Satb2

Ensembl Gene

ENSMUSG00000038331

Gene Name

special AT-rich sequence binding protein 2

Synonyms

BAP002

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56833140-57017809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56884778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 382 (V382E)

Ref Sequence

ENSEMBL: ENSMUSP00000135391 (fasta)

Gene Model

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

AlphaFold

Q8VI24

Predicted Effect

probably damaging
Transcript: ENSMUST00000042857
AA Change: V441E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: V441E

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 damaging
Transcript: ENSMUST00000114415
AA Change: V500E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: V500E

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: V382E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: V382E

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

Meta Mutation Damage Score

0.9307

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	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
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
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'- TCTCCTCTGAACTCCGATGG -3'
(R):5'- CAGATGGTCGCTCTGAATGCAG -3'

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

Posted On

2015-09-25