Incidental Mutation 'IGL01515:Tsc22d1'
| ID |
89359 |
| 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: 0.268)
|
| Stock # |
IGL01515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 76742739 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]
[ENSMUST00000142683]
[ENSMUST00000177207]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000101618
|
| SMART Domains |
Protein: ENSMUSP00000099140
Gene: ENSMUSG00000022010
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSC22
|
22 |
81 |
1e-35 |
PFAM |
|
| Predicted Effect |
probably null
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 null
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: V59A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably null
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 null
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 null
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
T |
15: 91,047,289 (GRCm39) |
V588E |
probably damaging |
Het |
| Ar |
C |
T |
X: 97,295,453 (GRCm39) |
|
probably benign |
Het |
| B4galt7 |
C |
A |
13: 55,757,035 (GRCm39) |
Q243K |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,051 (GRCm39) |
T284S |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,843 (GRCm39) |
R596H |
probably damaging |
Het |
| Cyp2r1 |
T |
C |
7: 114,151,947 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,228 (GRCm39) |
L74* |
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,867,459 (GRCm39) |
I304L |
probably benign |
Het |
| Fam171b |
G |
A |
2: 83,710,577 (GRCm39) |
E750K |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,651,642 (GRCm39) |
E554D |
probably benign |
Het |
| Fnd3c2 |
T |
C |
X: 105,282,093 (GRCm39) |
K721E |
probably damaging |
Het |
| Gpam |
A |
G |
19: 55,075,883 (GRCm39) |
L243P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,601,706 (GRCm39) |
E1032G |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,200 (GRCm39) |
V1054E |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,679,340 (GRCm39) |
S331G |
possibly damaging |
Het |
| Ints11 |
A |
T |
4: 155,959,689 (GRCm39) |
I99F |
probably damaging |
Het |
| Jak3 |
G |
A |
8: 72,133,206 (GRCm39) |
|
probably null |
Het |
| Ky |
A |
G |
9: 102,419,304 (GRCm39) |
Y437C |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,020 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,414,106 (GRCm39) |
K761Q |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,172,655 (GRCm39) |
D1194G |
probably benign |
Het |
| Naga |
C |
A |
15: 82,214,360 (GRCm39) |
V384F |
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,611 (GRCm39) |
S72T |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,352 (GRCm39) |
T197I |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,183 (GRCm39) |
Y60C |
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,703,979 (GRCm39) |
S1337L |
probably benign |
Het |
| Slitrk2 |
C |
T |
X: 65,699,248 (GRCm39) |
P580S |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,592,936 (GRCm39) |
D67G |
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 |
|
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 |
2013-12-03 |
Incidental Mutation