Incidental Mutation 'R3976:Tsc22d1'
| ID |
312660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
040842-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R3976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76656049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 761
(S761P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106513
(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: S843P
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: S843P
| 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 damaging
Transcript: ENSMUST00000110888
AA Change: S761P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: S761P
| 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 |
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (49/50) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
| Asb4 |
A |
T |
6: 5,390,771 (GRCm39) |
M55L |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,375,954 (GRCm39) |
S10P |
probably damaging |
Het |
| Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
| Cyb5r3 |
A |
G |
15: 83,044,330 (GRCm39) |
V180A |
possibly damaging |
Het |
| Dglucy |
A |
T |
12: 100,807,648 (GRCm39) |
T186S |
probably benign |
Het |
| Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
| Fam90a1a |
G |
A |
8: 22,451,432 (GRCm39) |
D98N |
probably damaging |
Het |
| Fbxo16 |
T |
A |
14: 65,524,606 (GRCm39) |
L42Q |
probably damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,268,697 (GRCm39) |
V231A |
probably benign |
Het |
| Fermt3 |
G |
A |
19: 6,979,792 (GRCm39) |
A447V |
possibly damaging |
Het |
| Fignl2 |
A |
G |
15: 100,950,467 (GRCm39) |
L605P |
unknown |
Het |
| Gcsam |
T |
G |
16: 45,440,192 (GRCm39) |
N78K |
probably damaging |
Het |
| Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
| Gm28042 |
C |
T |
2: 119,867,237 (GRCm39) |
H218Y |
probably benign |
Het |
| Herpud2 |
A |
G |
9: 25,021,734 (GRCm39) |
V304A |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
| Lrp3 |
T |
C |
7: 34,903,530 (GRCm39) |
D251G |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
| Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,319,066 (GRCm39) |
R173H |
probably benign |
Het |
| Or2k2 |
A |
G |
4: 58,785,164 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4f14 |
C |
T |
2: 111,742,951 (GRCm39) |
G108D |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
| Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
| Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
| Rab18 |
T |
A |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,939 (GRCm39) |
S365P |
probably benign |
Het |
| Rhbg |
C |
A |
3: 88,151,843 (GRCm39) |
G383V |
probably damaging |
Het |
| Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
| Runx2 |
T |
C |
17: 44,920,966 (GRCm39) |
T339A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,506,182 (GRCm39) |
E3455G |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
| Spg7 |
A |
G |
8: 123,806,187 (GRCm39) |
D299G |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 119,878,742 (GRCm39) |
|
noncoding transcript |
Het |
| Srcap |
A |
G |
7: 127,148,411 (GRCm39) |
T1859A |
probably benign |
Het |
| Suox |
A |
G |
10: 128,506,906 (GRCm39) |
V374A |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
| Tubal3 |
C |
T |
13: 3,982,946 (GRCm39) |
S242L |
probably benign |
Het |
| Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
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 |
|
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 |
|
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'- TCAAACCCGTGCTTCAAGCC -3'
(R):5'- CATTTGGCTTCCAATGGCC -3'
Sequencing Primer
(F):5'- GCCTTCCACAACAATTGGTC -3'
(R):5'- TCCAATGGCCTGAGCTAATG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation