Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Tsc22d1'

21479

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d1

Ensembl Gene

ENSMUSG00000022010

Gene Name

TSC22 domain family, member 1

Synonyms

Tgfb1i4, TSC-22, Egr5

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

76652401-76745205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76656421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 885 (T885A)

Ref Sequence

ENSEMBL: ENSMUSP00000106513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048371] [ENSMUST00000110888] [ENSMUST00000175984] [ENSMUST00000176581] [ENSMUST00000176886] [ENSMUST00000177471]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048371
AA Change: T967A

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: T967A

Domain	Start	End	E-Value	Type
low complexity region	32	47	N/A	INTRINSIC
low complexity region	59	96	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	191	208	N/A	INTRINSIC
low complexity region	216	241	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
low complexity region	266	289	N/A	INTRINSIC
low complexity region	461	489	N/A	INTRINSIC
low complexity region	497	521	N/A	INTRINSIC
low complexity region	537	556	N/A	INTRINSIC
low complexity region	619	637	N/A	INTRINSIC
low complexity region	673	687	N/A	INTRINSIC
low complexity region	702	724	N/A	INTRINSIC
low complexity region	933	970	N/A	INTRINSIC
Pfam:TSC22	992	1048	7e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110888
AA Change: T885A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: T885A

Domain	Start	End	E-Value	Type
low complexity region	32	47	N/A	INTRINSIC
low complexity region	59	96	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC
low complexity region	191	208	N/A	INTRINSIC
low complexity region	216	241	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
low complexity region	266	289	N/A	INTRINSIC
low complexity region	379	407	N/A	INTRINSIC
low complexity region	415	439	N/A	INTRINSIC
low complexity region	455	474	N/A	INTRINSIC
internal_repeat_1	502	536	8.43e-5	PROSPERO
low complexity region	537	555	N/A	INTRINSIC
low complexity region	591	605	N/A	INTRINSIC
low complexity region	620	642	N/A	INTRINSIC
internal_repeat_1	644	676	8.43e-5	PROSPERO
low complexity region	851	888	N/A	INTRINSIC
Pfam:TSC22	910	969	4.7e-34	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000175984
AA Change: T111A

SMART Domains

Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
AA Change: T111A

Domain	Start	End	E-Value	Type
low complexity region	77	114	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176581
AA Change: T112A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
AA Change: T112A

Domain	Start	End	E-Value	Type
low complexity region	78	115	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176886
AA Change: T89A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177333

Predicted Effect

unknown
Transcript: ENSMUST00000177471
AA Change: T52A

SMART Domains

Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010
AA Change: T52A

Domain	Start	End	E-Value	Type
low complexity region	18	55	N/A	INTRINSIC

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mcie homozygous for a null allele exhibit increased proliferation of bone marrow cells and decreased kidney and heart weights. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,554,190 (GRCm39)		probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,168,242 (GRCm39)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,831,864 (GRCm39)	R101H	probably benign	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc28a2b	T	A	2: 122,347,550 (GRCm39)		probably null	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,560,694 (GRCm39)	D428V	unknown	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	possibly damaging	Het

Other mutations in Tsc22d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Tsc22d1	APN	14	76,656,357 (GRCm39)	missense	probably damaging	0.99
IGL00515:Tsc22d1	APN	14	76,655,917 (GRCm39)	missense	probably damaging	0.99
IGL00703:Tsc22d1	APN	14	76,742,268 (GRCm39)	missense	possibly damaging	0.62
IGL00974:Tsc22d1	APN	14	76,743,882 (GRCm39)	missense	probably damaging	1.00
IGL01015:Tsc22d1	APN	14	76,656,181 (GRCm39)	missense	possibly damaging	0.66
IGL01515:Tsc22d1	APN	14	76,742,739 (GRCm39)	critical splice donor site	probably null
IGL02172:Tsc22d1	APN	14	76,655,132 (GRCm39)	missense	probably benign	0.04
IGL02307:Tsc22d1	APN	14	76,653,901 (GRCm39)	missense	probably damaging	0.99
IGL02553:Tsc22d1	APN	14	76,654,838 (GRCm39)	missense	possibly damaging	0.73
IGL02870:Tsc22d1	APN	14	76,655,057 (GRCm39)	missense	probably benign	0.42
IGL02989:Tsc22d1	APN	14	76,656,341 (GRCm39)	missense	probably benign	0.05
IGL03216:Tsc22d1	APN	14	76,656,077 (GRCm39)	missense	probably benign	0.02
R0416:Tsc22d1	UTSW	14	76,742,743 (GRCm39)	splice site	probably benign
R0854:Tsc22d1	UTSW	14	76,655,641 (GRCm39)	nonsense	probably null
R0963:Tsc22d1	UTSW	14	76,656,039 (GRCm39)	missense	possibly damaging	0.92
R1370:Tsc22d1	UTSW	14	76,675,104 (GRCm39)	intron	probably benign
R1736:Tsc22d1	UTSW	14	76,655,797 (GRCm39)	missense	probably benign	0.08
R1751:Tsc22d1	UTSW	14	76,655,542 (GRCm39)	missense	probably damaging	0.98
R1760:Tsc22d1	UTSW	14	76,654,388 (GRCm39)	missense	possibly damaging	0.69
R1767:Tsc22d1	UTSW	14	76,655,542 (GRCm39)	missense	probably damaging	0.98
R2020:Tsc22d1	UTSW	14	76,655,773 (GRCm39)	missense	probably damaging	1.00
R2209:Tsc22d1	UTSW	14	76,656,180 (GRCm39)	missense	probably damaging	1.00
R2439:Tsc22d1	UTSW	14	76,654,707 (GRCm39)	unclassified	probably benign
R2471:Tsc22d1	UTSW	14	76,655,644 (GRCm39)	missense	probably benign	0.00
R3114:Tsc22d1	UTSW	14	76,654,777 (GRCm39)	missense	probably damaging	1.00
R3907:Tsc22d1	UTSW	14	76,653,983 (GRCm39)	missense	probably damaging	0.98
R3973:Tsc22d1	UTSW	14	76,656,049 (GRCm39)	missense	probably damaging	1.00
R3974:Tsc22d1	UTSW	14	76,656,049 (GRCm39)	missense	probably damaging	1.00
R3975:Tsc22d1	UTSW	14	76,656,049 (GRCm39)	missense	probably damaging	1.00
R3976:Tsc22d1	UTSW	14	76,656,049 (GRCm39)	missense	probably damaging	1.00
R4292:Tsc22d1	UTSW	14	76,656,320 (GRCm39)	missense	probably benign	0.12
R4612:Tsc22d1	UTSW	14	76,656,445 (GRCm39)	missense	possibly damaging	0.66
R4806:Tsc22d1	UTSW	14	76,654,428 (GRCm39)	splice site	probably null
R4980:Tsc22d1	UTSW	14	76,655,696 (GRCm39)	missense	probably benign	0.02
R5068:Tsc22d1	UTSW	14	76,655,750 (GRCm39)	missense	probably benign	0.44
R5070:Tsc22d1	UTSW	14	76,655,750 (GRCm39)	missense	probably benign	0.44
R5239:Tsc22d1	UTSW	14	76,655,852 (GRCm39)	missense	probably damaging	0.99
R5360:Tsc22d1	UTSW	14	76,654,707 (GRCm39)	unclassified	probably benign
R5400:Tsc22d1	UTSW	14	76,654,494 (GRCm39)	missense	probably benign	0.00
R5616:Tsc22d1	UTSW	14	76,653,657 (GRCm39)	unclassified	probably benign
R5726:Tsc22d1	UTSW	14	76,742,757 (GRCm39)	nonsense	probably null
R5934:Tsc22d1	UTSW	14	76,656,266 (GRCm39)	missense	possibly damaging	0.87
R6860:Tsc22d1	UTSW	14	76,655,732 (GRCm39)	missense	possibly damaging	0.73
R6904:Tsc22d1	UTSW	14	76,743,923 (GRCm39)	nonsense	probably null
R7016:Tsc22d1	UTSW	14	76,654,982 (GRCm39)	missense	probably damaging	1.00
R7274:Tsc22d1	UTSW	14	76,654,154 (GRCm39)	missense	probably damaging	0.98
R7482:Tsc22d1	UTSW	14	76,655,927 (GRCm39)	missense	probably benign	0.10
R7532:Tsc22d1	UTSW	14	76,653,486 (GRCm39)	unclassified	probably benign
R7536:Tsc22d1	UTSW	14	76,742,203 (GRCm39)	missense	probably benign	0.00
R7784:Tsc22d1	UTSW	14	76,654,141 (GRCm39)	nonsense	probably null
R8161:Tsc22d1	UTSW	14	76,654,460 (GRCm39)	missense	probably benign	0.02
R8405:Tsc22d1	UTSW	14	76,655,734 (GRCm39)	missense	probably damaging	1.00
R8963:Tsc22d1	UTSW	14	76,656,266 (GRCm39)	missense	probably benign	0.06
R9150:Tsc22d1	UTSW	14	76,654,056 (GRCm39)	missense	probably damaging	0.99
R9259:Tsc22d1	UTSW	14	76,654,484 (GRCm39)	missense	probably damaging	1.00
R9431:Tsc22d1	UTSW	14	76,654,707 (GRCm39)	unclassified	probably benign
R9439:Tsc22d1	UTSW	14	76,743,899 (GRCm39)	missense	probably damaging	0.99
R9614:Tsc22d1	UTSW	14	76,653,983 (GRCm39)	missense	probably damaging	0.98
R9708:Tsc22d1	UTSW	14	76,654,664 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCCTTTGGCACAACAGATACCAC -3'
(R):5'- CCGTGACATTCTTCCTCTGGGAAAC -3'

Sequencing Primer
(F):5'- TCATTAGCTCAGGCCATTGGAAG -3'
(R):5'- CTGGGAAACTTACCATGAATATGCAC -3'

Posted On

2013-04-11