Incidental Mutation 'R7532:Tsc22d1'
| ID |
583386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
045604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R7532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 76653486 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add3 |
T |
A |
19: 53,220,589 (GRCm39) |
I174K |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,940,667 (GRCm39) |
I597F |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,586,796 (GRCm39) |
V813A |
probably damaging |
Het |
| Bpnt1 |
A |
T |
1: 185,084,523 (GRCm39) |
I207F |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,139 (GRCm39) |
W529R |
probably damaging |
Het |
| C2cd2l |
C |
T |
9: 44,226,681 (GRCm39) |
R355Q |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 62,356,915 (GRCm39) |
C784* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,193 (GRCm39) |
I994V |
unknown |
Het |
| Cst13 |
T |
G |
2: 148,665,127 (GRCm39) |
Y41D |
probably benign |
Het |
| Cyth2 |
C |
T |
7: 45,457,448 (GRCm39) |
A342T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,878,700 (GRCm39) |
L563P |
probably damaging |
Het |
| Dclk3 |
T |
G |
9: 111,296,596 (GRCm39) |
S47A |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,618,011 (GRCm39) |
N3183K |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,551,885 (GRCm39) |
V165M |
probably benign |
Het |
| Ephx3 |
T |
C |
17: 32,407,763 (GRCm39) |
N173S |
possibly damaging |
Het |
| Erc1 |
T |
A |
6: 119,756,592 (GRCm39) |
D388V |
probably benign |
Het |
| Esp34 |
T |
G |
17: 38,870,511 (GRCm39) |
V135G |
possibly damaging |
Het |
| Gfy |
G |
A |
7: 44,827,461 (GRCm39) |
P212S |
probably damaging |
Het |
| Gm5239 |
C |
T |
18: 35,669,795 (GRCm39) |
R54C |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,942,107 (GRCm39) |
F113L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,837,233 (GRCm39) |
D775V |
probably damaging |
Het |
| Ifrd2 |
T |
G |
9: 107,469,721 (GRCm39) |
S431R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,087,543 (GRCm39) |
A1121T |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,108,314 (GRCm39) |
F123L |
possibly damaging |
Het |
| Itgb6 |
C |
T |
2: 60,499,557 (GRCm39) |
V79I |
probably benign |
Het |
| Kcnd3 |
G |
A |
3: 105,575,526 (GRCm39) |
R550H |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,090 (GRCm39) |
S384T |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,845,794 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,560,464 (GRCm39) |
N67S |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,130,504 (GRCm39) |
S78P |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,281,323 (GRCm39) |
Y412H |
possibly damaging |
Het |
| Mucl2 |
A |
C |
15: 103,926,318 (GRCm39) |
I124S |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,981,921 (GRCm39) |
M806V |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,189 (GRCm39) |
L501P |
probably damaging |
Het |
| Nlrp6 |
C |
A |
7: 140,505,097 (GRCm39) |
P748Q |
probably benign |
Het |
| Or1j13 |
C |
T |
2: 36,370,138 (GRCm39) |
M1I |
probably null |
Het |
| Or6n2 |
T |
C |
1: 173,897,664 (GRCm39) |
S267P |
probably benign |
Het |
| Plxna2 |
G |
A |
1: 194,327,127 (GRCm39) |
A354T |
probably benign |
Het |
| Prpf39 |
G |
T |
12: 65,100,145 (GRCm39) |
V273L |
probably benign |
Het |
| Rad9a |
T |
C |
19: 4,251,522 (GRCm39) |
|
probably benign |
Het |
| Rnf135 |
A |
G |
11: 80,089,732 (GRCm39) |
D356G |
probably benign |
Het |
| Rragd |
G |
T |
4: 33,004,166 (GRCm39) |
A153S |
possibly damaging |
Het |
| Selenot |
G |
T |
3: 58,492,653 (GRCm39) |
V47L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,451,013 (GRCm39) |
L277P |
probably damaging |
Het |
| Sp7 |
A |
G |
15: 102,267,584 (GRCm39) |
F92S |
possibly damaging |
Het |
| Spata1 |
A |
T |
3: 146,173,946 (GRCm39) |
I380N |
possibly damaging |
Het |
| Spdye4b |
G |
T |
5: 143,180,652 (GRCm39) |
R39S |
possibly damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,621 (GRCm39) |
K57R |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,589 (GRCm39) |
R144L |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,249,565 (GRCm39) |
T998A |
probably benign |
Het |
| Vcl |
C |
A |
14: 21,079,392 (GRCm39) |
A965D |
probably damaging |
Het |
| Vmn1r69 |
A |
T |
7: 10,314,281 (GRCm39) |
V150D |
probably damaging |
Het |
| Vmn1r90 |
T |
G |
7: 14,295,189 (GRCm39) |
N303T |
possibly damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,059,622 (GRCm39) |
M429K |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,106 (GRCm39) |
Y247F |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,239,260 (GRCm39) |
S168T |
possibly 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 |
|
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 |
|
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'- AAGAAGGTGGGCATTTCTCGC -3'
(R):5'- TGCTGCATTGAGAGCAGAGG -3'
Sequencing Primer
(F):5'- CCCCACGTGAAGCGGAATATAAAG -3'
(R):5'- GCACTAATGTCTGCAGCA -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation