Mutagenetix > Incidental Mutation

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

2610306G12Rik

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2012 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

52043215-52140318 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 52089816 bp (GRCm39)

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]

AlphaFold

Q60611

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: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Akap5	A	T	12: 76,376,122 (GRCm39)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,100,118 (GRCm39)	P121L	probably damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Cherp	A	C	8: 73,228,613 (GRCm39)	N14K	probably damaging	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Has2	A	G	15: 56,531,264 (GRCm39)	W484R	probably damaging	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	probably benign	Het

Other mutations in Satb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Satb1	APN	17	52,112,317 (GRCm39)	missense	probably damaging	1.00
IGL01658:Satb1	APN	17	52,082,279 (GRCm39)	missense	probably benign	0.33
IGL02070:Satb1	APN	17	52,047,095 (GRCm39)	missense	probably damaging	0.98
IGL02212:Satb1	APN	17	52,082,319 (GRCm39)	missense	possibly damaging	0.82
IGL02971:Satb1	APN	17	52,049,717 (GRCm39)	missense	possibly damaging	0.62
R0049:Satb1	UTSW	17	52,047,374 (GRCm39)	missense	probably benign	0.28
R0056:Satb1	UTSW	17	52,047,231 (GRCm39)	missense	probably damaging	1.00
R0060:Satb1	UTSW	17	52,047,231 (GRCm39)	missense	probably damaging	1.00
R0067:Satb1	UTSW	17	52,111,364 (GRCm39)	missense	probably damaging	1.00
R0067:Satb1	UTSW	17	52,111,364 (GRCm39)	missense	probably damaging	1.00
R0113:Satb1	UTSW	17	52,089,726 (GRCm39)	nonsense	probably null
R0347:Satb1	UTSW	17	52,046,934 (GRCm39)	nonsense	probably null
R0667:Satb1	UTSW	17	52,089,889 (GRCm39)	missense	probably damaging	1.00
R1436:Satb1	UTSW	17	52,111,391 (GRCm39)	splice site	probably null
R1595:Satb1	UTSW	17	52,089,729 (GRCm39)	missense	possibly damaging	0.82
R1686:Satb1	UTSW	17	52,047,027 (GRCm39)	missense	probably benign	0.08
R1921:Satb1	UTSW	17	52,049,143 (GRCm39)	nonsense	probably null
R1952:Satb1	UTSW	17	52,047,173 (GRCm39)	missense	probably damaging	1.00
R2156:Satb1	UTSW	17	52,047,438 (GRCm39)	missense	probably benign	0.02
R2180:Satb1	UTSW	17	52,110,524 (GRCm39)	missense	probably damaging	0.96
R2959:Satb1	UTSW	17	52,082,331 (GRCm39)	missense	possibly damaging	0.91
R3107:Satb1	UTSW	17	52,089,810 (GRCm39)	missense	possibly damaging	0.95
R3108:Satb1	UTSW	17	52,089,810 (GRCm39)	missense	possibly damaging	0.95
R3814:Satb1	UTSW	17	52,089,935 (GRCm39)	missense	probably damaging	0.98
R4109:Satb1	UTSW	17	52,111,378 (GRCm39)	missense	probably damaging	0.99
R4727:Satb1	UTSW	17	52,111,375 (GRCm39)	missense	probably damaging	1.00
R5209:Satb1	UTSW	17	52,116,235 (GRCm39)	missense	probably benign	0.26
R5652:Satb1	UTSW	17	52,049,823 (GRCm39)	missense	probably damaging	1.00
R5815:Satb1	UTSW	17	52,089,981 (GRCm39)	missense	possibly damaging	0.92
R6141:Satb1	UTSW	17	52,082,404 (GRCm39)	missense	possibly damaging	0.93
R6370:Satb1	UTSW	17	52,089,825 (GRCm39)	missense	possibly damaging	0.94
R7371:Satb1	UTSW	17	52,090,008 (GRCm39)	nonsense	probably null
R7409:Satb1	UTSW	17	52,116,217 (GRCm39)	missense	possibly damaging	0.90
R7471:Satb1	UTSW	17	52,090,029 (GRCm39)	missense	probably damaging	0.96
R7568:Satb1	UTSW	17	52,089,752 (GRCm39)	missense	possibly damaging	0.88
R7626:Satb1	UTSW	17	52,074,995 (GRCm39)	missense	probably benign	0.25
R7749:Satb1	UTSW	17	52,074,961 (GRCm39)	missense	possibly damaging	0.70
R7863:Satb1	UTSW	17	52,112,350 (GRCm39)	missense	possibly damaging	0.91
R8339:Satb1	UTSW	17	52,089,977 (GRCm39)	missense	probably damaging	0.97
R8429:Satb1	UTSW	17	52,074,978 (GRCm39)	missense	probably damaging	1.00
R8987:Satb1	UTSW	17	52,112,381 (GRCm39)	missense	probably damaging	1.00
R9160:Satb1	UTSW	17	52,047,053 (GRCm39)	missense	probably benign
R9251:Satb1	UTSW	17	52,112,293 (GRCm39)	missense	probably damaging	1.00
R9656:Satb1	UTSW	17	52,112,264 (GRCm39)	missense	possibly damaging	0.95
Z1088:Satb1	UTSW	17	52,089,980 (GRCm39)	missense	probably damaging	0.98
Z1088:Satb1	UTSW	17	52,089,967 (GRCm39)	missense	probably damaging	0.99

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