Incidental Mutation 'R9259:Tsc22d1'
| ID |
702127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R9259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76654484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 321
(V321E)
|
| 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 damaging
Transcript: ENSMUST00000048371
AA Change: V321E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: V321E
| 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: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| Acot6 |
A |
G |
12: 84,155,816 (GRCm39) |
I255V |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,576,604 (GRCm39) |
I986N |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,053,863 (GRCm39) |
M164K |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,749,949 (GRCm39) |
H813Y |
|
Het |
| Alas1 |
A |
T |
9: 106,118,835 (GRCm39) |
S195T |
probably benign |
Het |
| Aldoart1 |
T |
C |
4: 72,770,680 (GRCm39) |
T43A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,644,873 (GRCm39) |
D2537G |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,302 (GRCm39) |
T1040A |
probably damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,784,532 (GRCm39) |
I120T |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,278 (GRCm39) |
E46G |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,559,661 (GRCm39) |
V199E |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,696,956 (GRCm39) |
S236P |
probably damaging |
Het |
| Atp5mc2 |
T |
A |
15: 102,571,561 (GRCm39) |
N110I |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,582,576 (GRCm39) |
M280T |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,736,817 (GRCm39) |
T134A |
possibly damaging |
Het |
| Clec4n |
C |
A |
6: 123,212,424 (GRCm39) |
P80Q |
probably damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,375 (GRCm39) |
K274E |
probably benign |
Het |
| Cntrob |
A |
T |
11: 69,211,665 (GRCm39) |
D186E |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,232,787 (GRCm39) |
V1102A |
possibly damaging |
Het |
| Dcun1d3 |
A |
G |
7: 119,457,052 (GRCm39) |
V220A |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,242,757 (GRCm39) |
N1127K |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,614 (GRCm39) |
S206L |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,295,325 (GRCm39) |
E218G |
probably damaging |
Het |
| Fkbp2 |
G |
T |
19: 6,955,960 (GRCm39) |
Q82K |
probably benign |
Het |
| Gpr161 |
T |
C |
1: 165,138,025 (GRCm39) |
Y204H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,661,318 (GRCm39) |
D206V |
probably damaging |
Het |
| Hoxb9 |
G |
A |
11: 96,162,762 (GRCm39) |
G132D |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,454,875 (GRCm39) |
V117M |
possibly damaging |
Het |
| Inhbe |
A |
G |
10: 127,186,844 (GRCm39) |
F112S |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,766,561 (GRCm39) |
Y1481N |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,456,726 (GRCm39) |
H303L |
probably damaging |
Het |
| Kdm5d |
A |
G |
Y: 942,640 (GRCm39) |
E1435G |
possibly damaging |
Het |
| Kifc1 |
G |
T |
17: 34,101,165 (GRCm39) |
T599K |
possibly damaging |
Het |
| Klhl38 |
T |
C |
15: 58,186,471 (GRCm39) |
E86G |
probably benign |
Het |
| Mcub |
G |
C |
3: 129,720,070 (GRCm39) |
T141R |
probably benign |
Het |
| Moxd2 |
A |
T |
6: 40,860,969 (GRCm39) |
V274D |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,118,229 (GRCm39) |
V803M |
possibly damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,642 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Pbld1 |
A |
G |
10: 62,897,436 (GRCm39) |
T46A |
possibly damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Perm1 |
C |
T |
4: 156,303,607 (GRCm39) |
T717I |
probably benign |
Het |
| Pim1 |
G |
A |
17: 29,710,181 (GRCm39) |
A22T |
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,043,714 (GRCm39) |
P156L |
probably damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,359,612 (GRCm39) |
R130C |
probably damaging |
Het |
| Prdm16 |
C |
A |
4: 154,430,525 (GRCm39) |
W321L |
possibly damaging |
Het |
| Ptprd |
T |
A |
4: 75,990,200 (GRCm39) |
D504V |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,975,639 (GRCm39) |
T65A |
probably damaging |
Het |
| Rtcb |
A |
G |
10: 85,774,925 (GRCm39) |
I490T |
probably damaging |
Het |
| Sec31b |
G |
T |
19: 44,505,855 (GRCm39) |
L967I |
probably damaging |
Het |
| Sec63 |
A |
C |
10: 42,699,937 (GRCm39) |
M666L |
probably benign |
Het |
| Sh3rf1 |
G |
C |
8: 61,806,838 (GRCm39) |
A379P |
probably benign |
Het |
| Slc7a12 |
T |
A |
3: 14,546,376 (GRCm39) |
L174I |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,067,124 (GRCm39) |
S1935N |
possibly damaging |
Het |
| Susd6 |
A |
T |
12: 80,898,030 (GRCm39) |
Q55L |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,897,867 (GRCm39) |
E373G |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,379,640 (GRCm39) |
Y372C |
probably damaging |
Het |
| Tm6sf2 |
A |
T |
8: 70,530,585 (GRCm39) |
I222L |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,670,350 (GRCm39) |
N172S |
|
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vcan |
G |
A |
13: 89,838,989 (GRCm39) |
S2185F |
probably damaging |
Het |
| Wapl |
G |
T |
14: 34,463,052 (GRCm39) |
V1131L |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,224,280 (GRCm39) |
M852V |
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 |
|
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 |
|
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'- AGTGTCCAGGAAACTCTCTACAAC -3'
(R):5'- CACAGTGATACCTGCAGCTG -3'
Sequencing Primer
(F):5'- CTCTCTACAACTGGAAGTTCTGATGG -3'
(R):5'- CAGCTGCATTAAGGACACTGTTAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation