Incidental Mutation 'R5360:Tsc22d1'
ID |
424310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc22d1
|
Ensembl Gene |
ENSMUSG00000022010 |
Gene Name |
TSC22 domain family, member 1 |
Synonyms |
Tgfb1i4, TSC-22, Egr5 |
MMRRC Submission |
042939-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R5360 (G1)
|
Quality Score |
115 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TCAGCAGCAGCAGCAGCAGCAGCAGCA to TCAGCAGCAGCAGCAGCAGCAGCA
at 76654707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134792
(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
|
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
T |
A |
19: 55,279,592 (GRCm39) |
Y443* |
probably null |
Het |
Aox3 |
C |
T |
1: 58,185,667 (GRCm39) |
T331M |
probably damaging |
Het |
Arhgap32 |
G |
A |
9: 32,170,967 (GRCm39) |
R1598H |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,106,436 (GRCm39) |
|
probably null |
Het |
Brpf3 |
A |
T |
17: 29,029,536 (GRCm39) |
M499L |
probably benign |
Het |
Cacnb1 |
A |
T |
11: 97,909,097 (GRCm39) |
|
probably null |
Het |
Cep295 |
A |
G |
9: 15,238,029 (GRCm39) |
S1899P |
probably damaging |
Het |
Cntn2 |
A |
G |
1: 132,446,595 (GRCm39) |
Y748H |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,532,599 (GRCm39) |
Y2532F |
probably damaging |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,474,011 (GRCm39) |
D1028G |
probably damaging |
Het |
Eif1ad16 |
A |
C |
12: 87,985,265 (GRCm39) |
L93V |
probably benign |
Het |
Elp1 |
A |
T |
4: 56,800,104 (GRCm39) |
H7Q |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,140,533 (GRCm39) |
G55R |
probably damaging |
Het |
Gdf9 |
T |
A |
11: 53,328,034 (GRCm39) |
F330Y |
probably benign |
Het |
Gimap8 |
T |
C |
6: 48,633,236 (GRCm39) |
S352P |
probably damaging |
Het |
Gm4952 |
A |
T |
19: 12,600,993 (GRCm39) |
H71L |
probably benign |
Het |
Gnaq |
G |
A |
19: 16,110,790 (GRCm39) |
R34H |
probably benign |
Het |
Hebp2 |
T |
C |
10: 18,420,055 (GRCm39) |
D126G |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,453,464 (GRCm39) |
D601G |
possibly damaging |
Het |
Hook2 |
T |
C |
8: 85,728,033 (GRCm39) |
Y577H |
probably damaging |
Het |
Igfals |
A |
G |
17: 25,099,067 (GRCm39) |
T53A |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,222,968 (GRCm39) |
D123G |
probably damaging |
Het |
Ilrun |
A |
T |
17: 28,013,020 (GRCm39) |
I59N |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Mdm4 |
A |
T |
1: 132,919,396 (GRCm39) |
*490K |
probably null |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Neurl2 |
C |
A |
2: 164,675,021 (GRCm39) |
A114S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,876,075 (GRCm39) |
T563A |
probably damaging |
Het |
Or8g32 |
T |
G |
9: 39,305,698 (GRCm39) |
F204V |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pdlim1 |
A |
T |
19: 40,218,993 (GRCm39) |
S213T |
probably damaging |
Het |
Pitx1 |
T |
C |
13: 55,976,291 (GRCm39) |
I123V |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,829,204 (GRCm39) |
N1013D |
probably benign |
Het |
Pla2g2c |
T |
A |
4: 138,461,656 (GRCm39) |
Y42N |
possibly damaging |
Het |
Polr2b |
G |
A |
5: 77,496,993 (GRCm39) |
A1168T |
possibly damaging |
Het |
Ppp2r2a |
G |
A |
14: 67,254,020 (GRCm39) |
R383* |
probably null |
Het |
Prl7a2 |
C |
T |
13: 27,843,143 (GRCm39) |
R220H |
probably benign |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rc3h2 |
A |
G |
2: 37,279,867 (GRCm39) |
V454A |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,732,665 (GRCm39) |
T307A |
probably damaging |
Het |
Slc22a6 |
T |
C |
19: 8,596,786 (GRCm39) |
L188P |
probably damaging |
Het |
Spag17 |
A |
G |
3: 100,016,726 (GRCm39) |
N2167S |
probably benign |
Het |
Spag5 |
G |
A |
11: 78,205,588 (GRCm39) |
E680K |
probably damaging |
Het |
Spata6 |
A |
G |
4: 111,680,026 (GRCm39) |
Y428C |
possibly damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,291,660 (GRCm39) |
D47G |
probably benign |
Het |
Trp53 |
T |
C |
11: 69,479,566 (GRCm39) |
|
probably null |
Het |
Ttc39b |
T |
C |
4: 83,180,084 (GRCm39) |
D103G |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,750,322 (GRCm39) |
W3576G |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,972,912 (GRCm39) |
M22K |
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 |
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 |
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'- CTGTGGGTAGTTTCAGTCCC -3'
(R):5'- CACCACTTTATTGACGGCCAC -3'
Sequencing Primer
(F):5'- TTTCAGTCCCAGTGTGACGAACAG -3'
(R):5'- ACGCCTTCTGTAGCTGGCAC -3'
|
Posted On |
2016-08-04 |