Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Tsc22d1'

192726

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d1

Ensembl Gene

ENSMUSG00000022010

Gene Name

TSC22 domain family, member 1

Synonyms

Tgfb1i4, TSC-22, Egr5

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

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

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76652401-76745205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76654388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 289 (V289A)

Ref Sequence

ENSEMBL: ENSMUSP00000044517 (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: V289A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: V289A

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

unknown
Transcript: ENSMUST00000110888
AA Change: V289A

SMART Domains

Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: V289A

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: ENSMUST00000175984

SMART Domains

Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176581

SMART Domains

Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177333

Predicted Effect

probably benign
Transcript: ENSMUST00000177471

SMART Domains

Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010

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

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Trdn	A	G	10: 33,109,883 (GRCm39)	T294A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	probably 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
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
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'- CACCATCATTCATCACATGCTGCTG -3'
(R):5'- ATTGCCCATGCCACTCAAGATACTC -3'

Sequencing Primer
(F):5'- AACTGGAAGTTCTGATGGTGGTG -3'
(R):5'- TTAACAACACTGGTAACTCCAGG -3'

Posted On

2014-05-23