Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Satb1'

365799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Satb1

Ensembl Gene

ENSMUSG00000023927

Gene Name

special AT-rich sequence binding protein 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

51736187-51833290 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51742689 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 579 (D579G)

Ref Sequence

ENSEMBL: ENSMUSP00000134957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129667] [ENSMUST00000133574] [ENSMUST00000140979] [ENSMUST00000144331] [ENSMUST00000152830] [ENSMUST00000169480] [ENSMUST00000176669]

AlphaFold

Q60611

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129667
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	619	N/A	INTRINSIC
HOX	644	707	6.73e-10	SMART
low complexity region	720	730	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133574
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	620	N/A	INTRINSIC
HOX	645	708	6.73e-10	SMART
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137697

Predicted Effect

probably benign
Transcript: ENSMUST00000140979
AA Change: D579G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
Pfam:ULD	72	170	3.2e-40	PFAM
Pfam:CUTL	176	247	1.6e-46	PFAM
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	616	661	N/A	INTRINSIC
HOX	676	739	6.73e-10	SMART
low complexity region	752	762	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144331
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	620	N/A	INTRINSIC
HOX	645	708	6.73e-10	SMART
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152830
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	620	N/A	INTRINSIC
HOX	645	708	6.73e-10	SMART
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169480
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	620	N/A	INTRINSIC
HOX	645	708	6.73e-10	SMART
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176669
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: D579G

Domain	Start	End	E-Value	Type
PDB:3TUO\|D	71	171	5e-66	PDB
PDB:3NZL\|A	179	250	5e-45	PDB
Blast:CUT	245	327	9e-48	BLAST
CUT	362	448	1.08e-38	SMART
CUT	485	571	4.41e-39	SMART
low complexity region	593	620	N/A	INTRINSIC
HOX	645	708	6.73e-10	SMART
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194215

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mice for a targeted null mutation exhibit reduced size of the lymphoid organs, abnormal T cell development, general growth retardation and die by 3-4 weeks of age. Mice homozegous for a different targeted allele exhibit postnatal growth retardation and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	probably benign	Het

Other mutations in Satb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Satb1	APN	17	51805289	missense	probably damaging	1.00
IGL01658:Satb1	APN	17	51775251	missense	probably benign	0.33
IGL02070:Satb1	APN	17	51740067	missense	probably damaging	0.98
IGL02212:Satb1	APN	17	51775291	missense	possibly damaging	0.82
R0049:Satb1	UTSW	17	51740346	missense	probably benign	0.28
R0056:Satb1	UTSW	17	51740203	missense	probably damaging	1.00
R0060:Satb1	UTSW	17	51740203	missense	probably damaging	1.00
R0067:Satb1	UTSW	17	51804336	missense	probably damaging	1.00
R0067:Satb1	UTSW	17	51804336	missense	probably damaging	1.00
R0113:Satb1	UTSW	17	51782698	nonsense	probably null
R0347:Satb1	UTSW	17	51739906	nonsense	probably null
R0667:Satb1	UTSW	17	51782861	missense	probably damaging	1.00
R1436:Satb1	UTSW	17	51804363	splice site	probably null
R1595:Satb1	UTSW	17	51782701	missense	possibly damaging	0.82
R1686:Satb1	UTSW	17	51739999	missense	probably benign	0.08
R1921:Satb1	UTSW	17	51742115	nonsense	probably null
R1952:Satb1	UTSW	17	51740145	missense	probably damaging	1.00
R2012:Satb1	UTSW	17	51782788	nonsense	probably null
R2156:Satb1	UTSW	17	51740410	missense	probably benign	0.02
R2180:Satb1	UTSW	17	51803496	missense	probably damaging	0.96
R2959:Satb1	UTSW	17	51775303	missense	possibly damaging	0.91
R3107:Satb1	UTSW	17	51782782	missense	possibly damaging	0.95
R3108:Satb1	UTSW	17	51782782	missense	possibly damaging	0.95
R3814:Satb1	UTSW	17	51782907	missense	probably damaging	0.98
R4109:Satb1	UTSW	17	51804350	missense	probably damaging	0.99
R4727:Satb1	UTSW	17	51804347	missense	probably damaging	1.00
R5209:Satb1	UTSW	17	51809207	missense	probably benign	0.26
R5652:Satb1	UTSW	17	51742795	missense	probably damaging	1.00
R5815:Satb1	UTSW	17	51782953	missense	possibly damaging	0.92
R6141:Satb1	UTSW	17	51775376	missense	possibly damaging	0.93
R6370:Satb1	UTSW	17	51782797	missense	possibly damaging	0.94
R7371:Satb1	UTSW	17	51782980	nonsense	probably null
R7409:Satb1	UTSW	17	51809189	missense	possibly damaging	0.90
R7471:Satb1	UTSW	17	51783001	missense	probably damaging	0.96
R7568:Satb1	UTSW	17	51782724	missense	possibly damaging	0.88
R7626:Satb1	UTSW	17	51767967	missense	probably benign	0.25
R7749:Satb1	UTSW	17	51767933	missense	possibly damaging	0.70
R7863:Satb1	UTSW	17	51805322	missense	possibly damaging	0.91
R8339:Satb1	UTSW	17	51782949	missense	probably damaging	0.97
R8429:Satb1	UTSW	17	51767950	missense	probably damaging	1.00
R8987:Satb1	UTSW	17	51805353	missense	probably damaging	1.00
R9160:Satb1	UTSW	17	51740025	missense	probably benign
R9251:Satb1	UTSW	17	51805265	missense	probably damaging	1.00
R9656:Satb1	UTSW	17	51805236	missense	possibly damaging	0.95
Z1088:Satb1	UTSW	17	51782939	missense	probably damaging	0.99
Z1088:Satb1	UTSW	17	51782952	missense	probably damaging	0.98

Posted On

2015-12-18