Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02070:Satb1'

185773

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02070

Quality Score

Status

Chromosome

Chromosomal Location

51736187-51833290 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51740067 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 740 (D740V)

Ref Sequence

ENSEMBL: ENSMUSP00000118839 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129667
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: D709V

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

probably benign
Transcript: ENSMUST00000133574
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: D709V

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 damaging
Transcript: ENSMUST00000140979
AA Change: D740V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: D740V

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

probably benign
Transcript: ENSMUST00000144331
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: D709V

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

probably benign
Transcript: ENSMUST00000152830
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: D709V

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

probably benign
Transcript: ENSMUST00000169480
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: D709V

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

probably benign
Transcript: ENSMUST00000176669
AA Change: D709V

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: D709V

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	C	17: 33,066,130	E566G	probably damaging	Het
Adgrg6	A	G	10: 14,467,592	Y204H	probably damaging	Het
Akap13	C	A	7: 75,666,545	T583K	probably benign	Het
Alms1	C	A	6: 85,651,403	Q2948K	possibly damaging	Het
Auts2	C	T	5: 131,470,421	R327Q	probably damaging	Het
Card14	A	C	11: 119,344,704	E988A	probably damaging	Het
Ccl25	T	C	8: 4,348,700		probably benign	Het
Cttnbp2nl	A	C	3: 105,011,266	V86G	probably damaging	Het
Cyb5r2	G	A	7: 107,751,187	T213I	probably damaging	Het
Ear6	A	G	14: 51,854,446	H150R	probably damaging	Het
Ecm2	T	C	13: 49,518,370	C116R	probably damaging	Het
Gabrr2	G	T	4: 33,095,340	E385*	probably null	Het
Hyal5	T	A	6: 24,876,962	V278D	probably damaging	Het
Mboat1	T	C	13: 30,224,397	L181P	probably benign	Het
Mdm1	A	G	10: 118,146,618	I53V	probably damaging	Het
Mfrp	T	C	9: 44,104,689	Y368H	probably benign	Het
Myo1b	A	G	1: 51,794,337	V365A	probably damaging	Het
Nexmif	G	T	X: 104,083,211	H1509Q	probably benign	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Obox6	G	A	7: 15,834,879	S24L	probably damaging	Het
Olfr1184	T	A	2: 88,487,002	I90N	probably damaging	Het
Olfr682-ps1	G	T	7: 105,127,047	L85I	probably benign	Het
Optc	T	A	1: 133,901,176	I178F	probably damaging	Het
Pcdh15	T	A	10: 74,630,868	N1535K	probably benign	Het
Pcdhb19	A	T	18: 37,498,544	N464I	probably damaging	Het
Pcsk5	C	T	19: 17,439,042	V1681I	probably benign	Het
Pknox1	T	A	17: 31,603,365		probably benign	Het
Ppa2	T	C	3: 133,377,862	F327S	probably damaging	Het
Rab39b	G	T	X: 75,574,703	L174M	probably damaging	Het
Reep5	A	T	18: 34,372,473	Y48*	probably null	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sar1a	T	A	10: 61,684,894		probably benign	Het
Sema3f	G	A	9: 107,692,241	T128I	probably damaging	Het
Snx1	A	T	9: 66,098,449	S129R	probably damaging	Het
Sptb	T	A	12: 76,605,539	K1641N	possibly damaging	Het
Sptbn1	T	C	11: 30,145,979	E305G	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Taar7d	A	T	10: 24,028,254	I345F	probably benign	Het
Tes	T	C	6: 17,099,780	L258P	probably damaging	Het
Trav9-4	A	T	14: 53,676,360	T24S	possibly damaging	Het
Utp20	A	G	10: 88,821,877		probably benign	Het
Vcam1	T	A	3: 116,125,997	T207S	probably benign	Het
Xkrx	T	C	X: 134,150,562	S447G	probably benign	Het
Zfp318	T	C	17: 46,396,718	L234P	probably damaging	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
IGL02212:Satb1	APN	17	51775291	missense	possibly damaging	0.82
IGL02971:Satb1	APN	17	51742689	missense	possibly damaging	0.62
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	unclassified	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
R7946:Satb1	UTSW	17	51805322	missense	possibly damaging	0.91
Z1088:Satb1	UTSW	17	51782939	missense	probably damaging	0.99
Z1088:Satb1	UTSW	17	51782952	missense	probably damaging	0.98

Posted On

2014-05-07