Mutagenetix > Incidental Mutations

Incidental Mutation 'R2012:Satb1'

220062

Institutional Source

Beutler Lab

Gene Symbol

Satb1

Ensembl Gene

ENSMUSG00000023927

Gene Name

special AT-rich sequence binding protein 1

Synonyms

MMRRC Submission

040021-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2012 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

51736187-51833290 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 51782788 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 344 (Q344*)

Ref Sequence

ENSEMBL: ENSMUSP00000134957 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000129667
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000133574
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000140979
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000144331
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000152830
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000169480
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: Q344*

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 null
Transcript: ENSMUST00000176669
AA Change: Q344*

SMART Domains

Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: Q344*

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,117,634	S675R	probably damaging	Het
Akap5	A	T	12: 76,329,348	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,405,597	D102G	probably damaging	Het
Aox3	A	T	1: 58,138,232	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,504,356	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,272,548	P121L	probably damaging	Het
BC034090	C	T	1: 155,221,432	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,625,392	Y128N	probably damaging	Het
Bin3	A	G	14: 70,134,773	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,448,284	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,690,722	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955	I135L	possibly damaging	Het
Chd3	T	C	11: 69,349,052	D1650G	probably benign	Het
Cherp	A	C	8: 72,474,769	N14K	probably damaging	Het
Clint1	C	T	11: 45,894,092	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,407,577	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,371,388		noncoding transcript	Het
Dapk1	A	T	13: 60,721,857	K304N	probably damaging	Het
Dnah6	T	A	6: 73,067,466	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589	I296K	probably benign	Het
Elp2	A	T	18: 24,631,458	T621S	probably benign	Het
Eml6	G	T	11: 29,831,128	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,367,166	M192I	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gas6	C	T	8: 13,468,266	V523M	probably damaging	Het
Ggn	A	T	7: 29,173,763		probably null	Het
Gimap8	A	G	6: 48,656,353	T369A	probably damaging	Het
Gm13101	A	T	4: 143,966,067	D121E	probably benign	Het
Grm5	T	C	7: 88,074,872	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,104,924	A354V	probably damaging	Het
Habp4	G	A	13: 64,170,181		probably null	Het
Has2	A	G	15: 56,667,868	W484R	probably damaging	Het
Herc4	G	T	10: 63,244,038		probably benign	Het
Igf2	C	A	7: 142,654,399	E106D	probably damaging	Het
Il17rb	A	T	14: 29,996,840	C428*	probably null	Het
Ipo11	A	T	13: 106,919,622	N47K	probably benign	Het
Itga4	T	G	2: 79,277,794	S197A	probably damaging	Het
Itpr1	T	A	6: 108,440,536	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919	T431I	probably benign	Het
Kif5a	A	T	10: 127,239,175	V523E	probably benign	Het
Klhl41	A	T	2: 69,683,496	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,921,280	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,143,610	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,310,851	E608K	probably benign	Het
Mcf2	T	A	X: 60,077,214	R850S	probably damaging	Het
Mmp2	A	G	8: 92,850,203	N618S	probably benign	Het
Morn5	A	T	2: 36,052,938	M17L	probably benign	Het
Nme8	T	C	13: 19,696,883	N26S	probably damaging	Het
Nostrin	C	A	2: 69,144,767		probably null	Het
Npy4r	T	A	14: 34,147,197	I45F	possibly damaging	Het
Olfr1163	A	G	2: 88,070,719	V221A	probably benign	Het
Olfr1242	A	G	2: 89,493,998	F105L	probably benign	Het
Olfr170	C	T	16: 19,606,131	C179Y	probably benign	Het
Olfr263	T	A	13: 21,133,489	M238K	probably benign	Het
Olfr317	T	C	11: 58,732,388	Y259C	possibly damaging	Het
Olfr339	A	G	2: 36,421,919	I174V	probably benign	Het
Olfr532	T	A	7: 140,419,111	I221F	probably damaging	Het
Oxt	A	G	2: 130,576,652	D61G	probably damaging	Het
Patl1	T	C	19: 11,939,817	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,505,074	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,061,494	S114R	probably benign	Het
Pfdn5	A	G	15: 102,326,521	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,728,036	T15N	possibly damaging	Het
Pink1	A	C	4: 138,318,005	S253A	probably null	Het
Plag1	A	T	4: 3,904,870	L107Q	probably damaging	Het
Pld5	C	A	1: 175,964,013	V476L	probably benign	Het
Prrt2	C	T	7: 127,019,409	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,237,656	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,027	T1039A	probably benign	Het
Rbm20	G	A	19: 53,859,428	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,897,097	N465K	probably benign	Het
Rgs12	A	G	5: 35,030,528	S510G	probably benign	Het
Sdr16c5	A	G	4: 3,996,244	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,271,844	S316G	possibly damaging	Het
Siglec1	A	T	2: 131,083,357	Y395N	probably damaging	Het
Simc1	A	G	13: 54,503,888	I5V	probably benign	Het
Slc27a2	T	C	2: 126,553,615	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,997,707	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,553,067	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727	R46*	probably null	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Spag9	T	A	11: 94,092,375	L504*	probably null	Het
Spata31d1a	A	G	13: 59,702,556	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,035,227	E194D	possibly damaging	Het
Spats2	A	G	15: 99,178,494	E151G	probably damaging	Het
Sugp2	T	A	8: 70,243,211	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,473,397		probably benign	Het
Syde2	G	T	3: 145,988,408	G137V	possibly damaging	Het
Synj1	A	T	16: 90,938,696	F1456L	probably damaging	Het
Szt2	A	G	4: 118,363,665		probably benign	Het
Timd4	C	A	11: 46,820,030	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,402,786	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,769,406	Y669H	probably damaging	Het
Tmem221	T	C	8: 71,555,814	E194G	probably benign	Het
Tmem232	C	A	17: 65,500,172	V9F	probably benign	Het
Tpm1	G	A	9: 67,033,965	Q135*	probably null	Het
Trank1	A	G	9: 111,365,028	T707A	probably benign	Het
Trpm7	A	T	2: 126,823,997	Y896*	probably null	Het
Tuba4a	A	T	1: 75,216,339	Y210*	probably null	Het
Vegfa	T	G	17: 46,025,358	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,615,877	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,316,578	I508V	probably benign	Het
Vps33a	G	T	5: 123,531,181		probably null	Het
Wasl	T	A	6: 24,624,361	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,742,834	N426D	probably benign	Het
Zcchc6	A	G	13: 59,811,538	V372A	probably damaging	Het
Zeb2	T	G	2: 44,997,950	H350P	probably damaging	Het
Zfp112	T	C	7: 24,125,300	F231S	possibly damaging	Het
Zfp180	T	C	7: 24,104,518	S121P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGAACACAACTGACCTGAGTTC -3'
(R):5'- TCCCAGGAAACACAGCTGAG -3'

Sequencing Primer
(F):5'- CTGACCTGAGTTCGGTTAAAAGCC -3'
(R):5'- TGAGCAGCCTCCATCCC -3'

Posted On

2014-08-25