Incidental Mutation 'R7784:Tsc22d1'
| ID |
599470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
045840-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R7784 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 76654141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 207
(Q207*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048371]
[ENSMUST00000110888]
[ENSMUST00000175984]
[ENSMUST00000176581]
[ENSMUST00000176886]
[ENSMUST00000177471]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048371
AA Change: Q207*
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: Q207*
| 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: ENSMUST00000110888
AA Change: Q207*
|
| SMART Domains |
Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: Q207*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,638 (GRCm39) |
|
probably null |
Het |
| 3425401B19Rik |
A |
T |
14: 32,381,797 (GRCm39) |
S1389R |
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,045,243 (GRCm39) |
C363* |
probably null |
Het |
| Actbl2 |
T |
A |
13: 111,391,945 (GRCm39) |
N93K |
probably damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,223,197 (GRCm39) |
Y993H |
probably damaging |
Het |
| Adgrg1 |
G |
A |
8: 95,739,510 (GRCm39) |
W653* |
probably null |
Het |
| Akap13 |
T |
A |
7: 75,260,076 (GRCm39) |
V97D |
probably benign |
Het |
| Cacna1d |
T |
A |
14: 29,845,396 (GRCm39) |
D613V |
probably damaging |
Het |
| Col10a1 |
C |
A |
10: 34,270,214 (GRCm39) |
P62H |
unknown |
Het |
| Cpb2 |
A |
T |
14: 75,512,480 (GRCm39) |
N298Y |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,789,396 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
C |
9: 44,541,439 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Eps8 |
T |
A |
6: 137,476,585 (GRCm39) |
I605L |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,475,121 (GRCm39) |
L304P |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,114,658 (GRCm39) |
I929F |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,620,551 (GRCm39) |
N393I |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,479,187 (GRCm39) |
D355N |
|
Het |
| Ffar2 |
T |
C |
7: 30,518,683 (GRCm39) |
K286E |
probably benign |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Ganc |
G |
A |
2: 120,267,149 (GRCm39) |
W488* |
probably null |
Het |
| Ifi207 |
T |
A |
1: 173,557,698 (GRCm39) |
M347L |
unknown |
Het |
| Kat6b |
A |
T |
14: 21,710,909 (GRCm39) |
I619F |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,144,581 (GRCm39) |
R1612G |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,837,320 (GRCm39) |
|
probably null |
Het |
| Krt39 |
A |
T |
11: 99,411,857 (GRCm39) |
C76* |
probably null |
Het |
| Lcmt1 |
G |
T |
7: 123,000,718 (GRCm39) |
R84L |
probably benign |
Het |
| Lrit1 |
A |
G |
14: 36,783,737 (GRCm39) |
Y355C |
probably benign |
Het |
| Mad2l1 |
C |
A |
6: 66,512,397 (GRCm39) |
|
probably null |
Het |
| Med23 |
C |
T |
10: 24,778,346 (GRCm39) |
T870M |
probably damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,959,517 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
A |
G |
14: 60,537,894 (GRCm39) |
D593G |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,752,166 (GRCm39) |
V683M |
|
Het |
| Neb |
T |
A |
2: 52,125,500 (GRCm39) |
M506L |
|
Het |
| Or12d13 |
T |
C |
17: 37,647,469 (GRCm39) |
Y218C |
probably benign |
Het |
| Or12d13 |
A |
G |
17: 37,647,946 (GRCm39) |
F59S |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,194,322 (GRCm39) |
H158Q |
possibly damaging |
Het |
| Or9m1 |
G |
A |
2: 87,733,537 (GRCm39) |
T161I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,316,295 (GRCm39) |
F294L |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,377,544 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,201 (GRCm39) |
T350A |
|
Het |
| Rbp3 |
A |
T |
14: 33,676,115 (GRCm39) |
H21L |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,212,881 (GRCm39) |
V1069F |
unknown |
Het |
| Rtn4 |
T |
A |
11: 29,691,048 (GRCm39) |
L1113* |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,606,040 (GRCm39) |
F2407L |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,425,166 (GRCm39) |
D107E |
probably damaging |
Het |
| Septin4 |
A |
G |
11: 87,469,834 (GRCm39) |
T7A |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,122,237 (GRCm39) |
I123F |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,639,936 (GRCm39) |
Y243H |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,889,114 (GRCm39) |
E66V |
probably damaging |
Het |
| Slco1a7 |
C |
T |
6: 141,658,919 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
T |
A |
1: 85,190,195 (GRCm39) |
|
probably null |
Het |
| Spata33 |
A |
G |
8: 123,939,991 (GRCm39) |
R68G |
unknown |
Het |
| Spta1 |
G |
A |
1: 174,030,017 (GRCm39) |
D928N |
probably damaging |
Het |
| St8sia5 |
A |
G |
18: 77,342,246 (GRCm39) |
S319G |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,055,465 (GRCm39) |
D149G |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,193,171 (GRCm39) |
I583F |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,764,080 (GRCm39) |
V2015M |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,472,079 (GRCm39) |
D143G |
probably benign |
Het |
| Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,176,789 (GRCm39) |
T1318S |
possibly damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,660 (GRCm39) |
K186R |
probably damaging |
Het |
| Vars2 |
C |
T |
17: 35,969,050 (GRCm39) |
A884T |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,596,183 (GRCm39) |
Q19R |
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 |
|
R7532:Tsc22d1
|
UTSW |
14 |
76,653,486 (GRCm39) |
unclassified |
probably benign |
|
|
R7536:Tsc22d1
|
UTSW |
14 |
76,742,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- ACGACGATCTGGATGAGTCG -3'
(R):5'- CCACCATCAGAACTTCCAGTTG -3'
Sequencing Primer
(F):5'- ATCTGGATGAGTCGCACAC -3'
(R):5'- CCAGTTGTAGAGAGTTTCCTGGACAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation