Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Satb2'

190511

Institutional Source

Beutler Lab

Gene Symbol

Satb2

Ensembl Gene

ENSMUSG00000038331

Gene Name

special AT-rich sequence binding protein 2

Synonyms

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56793981-56978650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56850289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 423 (N423S)

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: N364S

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: N364S

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: N423S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: N423S

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: N305S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: N305S

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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Disc1	T	A	8: 125,124,610	I413K	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	probably benign	Het

Other mutations in Satb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Satb2	APN	1	56831541	missense	possibly damaging	0.56
IGL02008:Satb2	APN	1	56796793	missense	possibly damaging	0.70
IGL02209:Satb2	APN	1	56871518	missense	probably damaging	1.00
IGL02956:Satb2	APN	1	56948175	missense	probably damaging	0.99
IGL03214:Satb2	APN	1	56845580	missense	probably damaging	1.00
IGL03272:Satb2	APN	1	56845643	missense	probably damaging	1.00
IGL03356:Satb2	APN	1	56891174	missense	probably damaging	1.00
Optimism	UTSW	1	56845721	nonsense	probably null
prophecy	UTSW	1	56845619	missense	probably damaging	1.00
R0990:Satb2	UTSW	1	56850184	missense	probably damaging	0.96
R1534:Satb2	UTSW	1	56948233	nonsense	probably null
R1952:Satb2	UTSW	1	56899070	missense	probably damaging	1.00
R2404:Satb2	UTSW	1	56948108	missense	probably damaging	1.00
R3792:Satb2	UTSW	1	56845620	missense	probably damaging	1.00
R3870:Satb2	UTSW	1	56891220	missense	probably damaging	1.00
R3871:Satb2	UTSW	1	56891220	missense	probably damaging	1.00
R4333:Satb2	UTSW	1	56845586	missense	probably damaging	1.00
R4621:Satb2	UTSW	1	56845619	missense	probably damaging	1.00
R4962:Satb2	UTSW	1	56891168	missense	probably benign	0.25
R5296:Satb2	UTSW	1	56796907	missense	probably damaging	0.99
R5314:Satb2	UTSW	1	56831527	missense	probably damaging	0.99
R5407:Satb2	UTSW	1	56948150	missense	probably damaging	1.00
R5925:Satb2	UTSW	1	56796938	missense	possibly damaging	0.80
R6355:Satb2	UTSW	1	56948197	missense	probably damaging	1.00
R6634:Satb2	UTSW	1	56845721	nonsense	probably null
R6645:Satb2	UTSW	1	56797007	missense	possibly damaging	0.51
R7578:Satb2	UTSW	1	56871784	missense	probably benign	0.01
R7694:Satb2	UTSW	1	56871524	missense	probably benign
R7811:Satb2	UTSW	1	56845721	missense	probably benign	0.19
R7961:Satb2	UTSW	1	56871758	missense	probably benign	0.01
R8009:Satb2	UTSW	1	56871758	missense	probably benign	0.01
R8023:Satb2	UTSW	1	56891231	missense	probably damaging	1.00
R8094:Satb2	UTSW	1	56831464	missense	possibly damaging	0.95
R8745:Satb2	UTSW	1	56969637	missense	unknown
R8960:Satb2	UTSW	1	56871311	critical splice donor site	probably null
R9382:Satb2	UTSW	1	56831638	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACAATGTCCATGAAGCACGAGTG -3'
(R):5'- GCCAAGAGTTCCCAGTTTCAAGCAG -3'

Sequencing Primer
(F):5'- CCATGAAGCACGAGTGAAGTATG -3'
(R):5'- ACAGCTCCTGAAATACTTGCTGG -3'

Posted On

2014-05-14