Incidental Mutation 'R0416:Tsc22d1'
| ID |
40346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
038618-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R0416 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 76742743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022587]
[ENSMUST00000048371]
[ENSMUST00000101618]
[ENSMUST00000110888]
[ENSMUST00000133224]
[ENSMUST00000134109]
[ENSMUST00000140251]
[ENSMUST00000177207]
[ENSMUST00000142683]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022587
|
| SMART Domains |
Protein: ENSMUSP00000022587
Gene: ENSMUSG00000022010
| 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 |
silent
Transcript: ENSMUST00000134109
|
| 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: ENSMUST00000177207
|
| SMART Domains |
Protein: ENSMUSP00000135296
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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,162,779 (GRCm39) |
I18V |
probably benign |
Het |
| Adamdec1 |
T |
G |
14: 68,806,161 (GRCm39) |
E438A |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 66,565,646 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
T |
G |
1: 54,782,498 (GRCm39) |
I359L |
possibly damaging |
Het |
| Ap2s1 |
C |
A |
7: 16,481,290 (GRCm39) |
N86K |
probably damaging |
Het |
| Arih1 |
T |
A |
9: 59,333,993 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,337,461 (GRCm39) |
I389N |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,492,857 (GRCm39) |
S3291P |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,822,645 (GRCm39) |
|
probably benign |
Het |
| Ccl7 |
C |
A |
11: 81,936,692 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,944,486 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,197,641 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
T |
A |
7: 35,115,827 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
G |
13: 93,226,364 (GRCm39) |
N2908T |
probably benign |
Het |
| Coil |
T |
C |
11: 88,872,812 (GRCm39) |
L391S |
possibly damaging |
Het |
| Cpd |
C |
T |
11: 76,676,030 (GRCm39) |
V1208I |
probably benign |
Het |
| Ddx19a |
T |
C |
8: 111,705,689 (GRCm39) |
D254G |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,083,887 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,874,793 (GRCm39) |
M4024K |
probably damaging |
Het |
| Ergic2 |
A |
T |
6: 148,084,642 (GRCm39) |
L53H |
probably damaging |
Het |
| Etv2 |
T |
C |
7: 30,334,058 (GRCm39) |
Y225C |
probably benign |
Het |
| F10 |
G |
A |
8: 13,105,448 (GRCm39) |
A338T |
probably damaging |
Het |
| Fam228b |
T |
A |
12: 4,812,382 (GRCm39) |
D132V |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,960 (GRCm39) |
I1918F |
possibly damaging |
Het |
| Fbxw5 |
C |
T |
2: 25,393,251 (GRCm39) |
S214F |
probably damaging |
Het |
| Glyat |
G |
A |
19: 12,628,817 (GRCm39) |
R204Q |
possibly damaging |
Het |
| Gm4825 |
T |
C |
15: 85,395,182 (GRCm39) |
|
noncoding transcript |
Het |
| Ino80d |
G |
T |
1: 63,125,435 (GRCm39) |
T9K |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,395 (GRCm39) |
D193V |
probably damaging |
Het |
| Lrp12 |
G |
T |
15: 39,742,307 (GRCm39) |
|
probably benign |
Het |
| Lrp3 |
A |
G |
7: 34,901,778 (GRCm39) |
V701A |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,756,708 (GRCm39) |
|
probably benign |
Het |
| Mrto4 |
A |
T |
4: 139,077,043 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
C |
5: 115,568,708 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mthfsd |
T |
C |
8: 121,827,976 (GRCm39) |
D168G |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,402,000 (GRCm39) |
V3099E |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,193,176 (GRCm39) |
|
probably null |
Het |
| Nadk |
C |
A |
4: 155,672,256 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,398,864 (GRCm39) |
K573E |
possibly damaging |
Het |
| Ndufs3 |
A |
G |
2: 90,728,732 (GRCm39) |
V207A |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,446,750 (GRCm39) |
|
probably benign |
Het |
| Nlrx1 |
T |
G |
9: 44,174,211 (GRCm39) |
D330A |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,504 (GRCm39) |
C24Y |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,393,222 (GRCm39) |
I53M |
unknown |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 82,021,240 (GRCm39) |
I1410F |
probably benign |
Het |
| Piezo2 |
G |
A |
18: 63,157,562 (GRCm39) |
R2383C |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,436 (GRCm39) |
K358* |
probably null |
Het |
| Polg |
T |
C |
7: 79,101,988 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
A |
5: 32,986,061 (GRCm39) |
I1145F |
probably benign |
Het |
| Psmb1 |
C |
T |
17: 15,714,781 (GRCm39) |
V39I |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,101 (GRCm39) |
Y66C |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,062 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,694,029 (GRCm39) |
Y1801H |
probably damaging |
Het |
| Serpinb3a |
C |
A |
1: 106,977,116 (GRCm39) |
A95S |
probably benign |
Het |
| Setd1a |
CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,469 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,932 (GRCm39) |
Y98N |
probably damaging |
Het |
| Slc30a1 |
C |
T |
1: 191,641,838 (GRCm39) |
P495S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,783,684 (GRCm39) |
|
probably benign |
Het |
| Stk3 |
T |
A |
15: 35,114,778 (GRCm39) |
I45L |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,144,392 (GRCm39) |
T163A |
probably damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,113,051 (GRCm39) |
K410E |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,012,973 (GRCm39) |
M152K |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,760,389 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,660 (GRCm39) |
F444I |
probably damaging |
Het |
| Vmn2r95 |
C |
T |
17: 18,661,664 (GRCm39) |
P470L |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,154,200 (GRCm39) |
Y163D |
probably damaging |
Het |
| Zfp62 |
A |
T |
11: 49,106,503 (GRCm39) |
H198L |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,952,613 (GRCm39) |
L56P |
probably benign |
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 |
|
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'- GCCATGCGAATTCCTTTGTCCATGC -3'
(R):5'- AAAGCCACACTGCTGAAGGTGCTC -3'
Sequencing Primer
(F):5'- GGCCAGAAGATCCTTATTTTCG -3'
(R):5'- TTATCCCGACACGGAGTGAATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation