Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Tsc22d1'

344871

Institutional Source

Beutler Lab

Gene Symbol

Tsc22d1

Ensembl Gene

ENSMUSG00000022010

Gene Name

TSC22 domain family, member 1

Synonyms

Tgfb1i4, TSC-22, Egr5

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

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

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76652401-76745205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76656445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 120 (E120K)

Ref Sequence

ENSEMBL: ENSMUSP00000135789 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048371
AA Change: E975K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: E975K

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: ENSMUST00000110888
AA Change: E893K

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: E893K

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: E119K

SMART Domains

Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
AA Change: E119K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176581
AA Change: E120K

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

SMART Domains

Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
AA Change: E120K

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

Predicted Effect

unknown
Transcript: ENSMUST00000176886
AA Change: E97K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177333

Predicted Effect

unknown
Transcript: ENSMUST00000177471
AA Change: E60K

SMART Domains

Protein: ENSMUSP00000134792
Gene: ENSMUSG00000022010
AA Change: E60K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	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
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
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'- CATTAGCTCAGGCCATTGGAAG -3'
(R):5'- TGCACTTCTCACATGCAAACG -3'

Sequencing Primer
(F):5'- CCAAATGGAAGATGCCAGGC -3'
(R):5'- TTCTCACATGCAAACGAAAAGGTG -3'

Posted On

2015-09-25