Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00703:Tsc22d1'

14613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tsc22d1

Ensembl Gene

ENSMUSG00000022010

Gene Name

TSC22 domain family, member 1

Synonyms

Tgfb1i4, TSC-22, Egr5

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

IGL00703

Quality Score

Status

Chromosome

Chromosomal Location

76652401-76745205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76742268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 38 (R38G)

Ref Sequence

ENSEMBL: ENSMUSP00000135146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022587] [ENSMUST00000048371] [ENSMUST00000101618] [ENSMUST00000110888] [ENSMUST00000133224] [ENSMUST00000134109] [ENSMUST00000140251] [ENSMUST00000142683] [ENSMUST00000177207]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022587
AA Change: R38G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022587
Gene: ENSMUSG00000022010
AA Change: R38G

Domain	Start	End	E-Value	Type
Pfam:TSC22	58	117	3.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048371

SMART Domains

Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010

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

probably benign
Transcript: ENSMUST00000101618

SMART Domains

Protein: ENSMUSP00000099140
Gene: ENSMUSG00000022010

Domain	Start	End	E-Value	Type
Pfam:TSC22	22	81	1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110888

SMART Domains

Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010

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

probably benign
Transcript: ENSMUST00000133224

SMART Domains

Protein: ENSMUSP00000135561
Gene: ENSMUSG00000022010

Domain	Start	End	E-Value	Type
Pfam:TSC22	1	60	1.3e-35	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134109
AA Change: R38G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000140251

SMART Domains

Protein: ENSMUSP00000135806
Gene: ENSMUSG00000022010

Domain	Start	End	E-Value	Type
Pfam:TSC22	1	60	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142683

SMART Domains

Protein: ENSMUSP00000135493
Gene: ENSMUSG00000022010

Domain	Start	End	E-Value	Type
Pfam:TSC22	1	60	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177207

SMART Domains

Protein: ENSMUSP00000135296
Gene: ENSMUSG00000022010

Domain	Start	End	E-Value	Type
Pfam:TSC22	1	60	1.3e-35	PFAM

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 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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Bdkrb2	T	C	12: 105,558,614 (GRCm39)	V285A	probably benign	Het
Cdc42se1	A	G	3: 95,139,856 (GRCm39)		probably benign	Het
Dimt1	T	C	13: 107,089,938 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,047 (GRCm39)	N129D	possibly damaging	Het
Ikbke	A	T	1: 131,183,039 (GRCm39)		probably benign	Het
Mast4	C	A	13: 102,907,275 (GRCm39)	E558*	probably null	Het
Mybpc1	T	C	10: 88,360,970 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,092,758 (GRCm39)	D609V	probably damaging	Het
Palmd	A	G	3: 116,721,040 (GRCm39)		probably benign	Het
Ppp1r3a	T	C	6: 14,718,407 (GRCm39)	T836A	probably benign	Het
Ptms	T	C	6: 124,891,919 (GRCm39)		probably benign	Het
Rnf170	A	G	8: 26,615,946 (GRCm39)	N79S	probably damaging	Het
Slc15a2	T	C	16: 36,578,153 (GRCm39)	I379V	probably benign	Het
Slco1b2	A	T	6: 141,601,078 (GRCm39)	T134S	probably damaging	Het
Tg	G	A	15: 66,568,338 (GRCm39)	V1342I	probably benign	Het
Ufl1	A	G	4: 25,280,631 (GRCm39)	V72A	possibly damaging	Het
Ugt2b35	A	T	5: 87,156,051 (GRCm39)	Y381F	probably benign	Het
Vil1	T	C	1: 74,463,119 (GRCm39)	L434P	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
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
R0127:Tsc22d1	UTSW	14	76,656,421 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2012-12-06