Incidental Mutation 'R5934:Tsc22d1'
| ID |
462129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
044128-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R5934 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 76656266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 833
(M833R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000048371
AA Change: M915R
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: M915R
| 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 |
possibly damaging
Transcript: ENSMUST00000110888
AA Change: M833R
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: M833R
| 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
AA Change: M59R
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135307
Gene: ENSMUSG00000022010
AA Change: M59R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176581
AA Change: M60R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135789
Gene: ENSMUSG00000022010
AA Change: M60R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,980,806 (GRCm39) |
V596A |
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,194,682 (GRCm39) |
T370M |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,717,678 (GRCm39) |
T118A |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,084,940 (GRCm39) |
A379V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,299 (GRCm39) |
|
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,266 (GRCm39) |
D66E |
probably benign |
Het |
| Cdh5 |
T |
A |
8: 104,864,900 (GRCm39) |
V506E |
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Ckb |
A |
T |
12: 111,636,663 (GRCm39) |
V237D |
probably damaging |
Het |
| Col6a6 |
C |
T |
9: 105,644,274 (GRCm39) |
D1306N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,140 (GRCm39) |
S19P |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,931,928 (GRCm39) |
D3681E |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,495 (GRCm39) |
Y2068* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,248,060 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,817,092 (GRCm39) |
C4275Y |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,664 (GRCm39) |
V202A |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,897,367 (GRCm39) |
I250M |
possibly damaging |
Het |
| Gpr88 |
C |
T |
3: 116,045,958 (GRCm39) |
G118R |
probably damaging |
Het |
| Hdhd3 |
C |
A |
4: 62,417,607 (GRCm39) |
V190L |
possibly damaging |
Het |
| Heg1 |
C |
T |
16: 33,547,289 (GRCm39) |
T461M |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,246,083 (GRCm39) |
Y989C |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,520,971 (GRCm39) |
M175L |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,414 (GRCm39) |
R101Q |
possibly damaging |
Het |
| Kif20b |
G |
T |
19: 34,918,721 (GRCm39) |
V702F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,360,651 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,618,249 (GRCm39) |
V916A |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,655 (GRCm39) |
C137S |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,160,535 (GRCm39) |
D589E |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,979,017 (GRCm39) |
C464R |
probably damaging |
Het |
| Mucl2 |
A |
T |
15: 103,927,832 (GRCm39) |
S42T |
probably benign |
Het |
| Musk |
T |
A |
4: 58,373,613 (GRCm39) |
L838Q |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,510 (GRCm39) |
H1052R |
probably damaging |
Het |
| Or10d4b |
C |
T |
9: 39,534,479 (GRCm39) |
T20I |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,874,293 (GRCm39) |
R303G |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,280 (GRCm39) |
I234N |
probably benign |
Het |
| Or2at1 |
A |
T |
7: 99,416,596 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4d2 |
T |
C |
11: 87,784,049 (GRCm39) |
R234G |
possibly damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,385 (GRCm39) |
C242F |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,867 (GRCm39) |
S211F |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
| Or8u8 |
T |
A |
2: 86,012,446 (GRCm39) |
Q3L |
probably benign |
Het |
| Pard3 |
T |
G |
8: 128,115,819 (GRCm39) |
L636R |
probably damaging |
Het |
| Pigr |
A |
T |
1: 130,772,264 (GRCm39) |
S161C |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,369 (GRCm39) |
S325P |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,060 (GRCm39) |
V1992E |
probably damaging |
Het |
| Psma5-ps |
T |
C |
10: 85,150,145 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,845 (GRCm39) |
K468E |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,503,297 (GRCm39) |
T37A |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,575,245 (GRCm39) |
K571I |
probably damaging |
Het |
| Reck |
G |
A |
4: 43,930,979 (GRCm39) |
G660D |
probably damaging |
Het |
| Rgs4 |
T |
C |
1: 169,572,807 (GRCm39) |
D43G |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,599,040 (GRCm39) |
D4645E |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,550,102 (GRCm39) |
S639P |
probably damaging |
Het |
| Slc27a4 |
G |
T |
2: 29,701,672 (GRCm39) |
R430L |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,770 (GRCm39) |
Y295* |
probably null |
Het |
| Slfn5 |
C |
T |
11: 82,847,418 (GRCm39) |
S101L |
probably damaging |
Het |
| Sult1d1 |
CCATG |
CCATGGCATG |
5: 87,707,629 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
T |
3: 93,351,419 (GRCm39) |
Q286H |
unknown |
Het |
| Tmem184c |
A |
T |
8: 78,331,352 (GRCm39) |
Y172* |
probably null |
Het |
| Ugt1a7c |
G |
T |
1: 88,023,601 (GRCm39) |
L253F |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,369,766 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,148 (GRCm39) |
I3303K |
possibly damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,757 (GRCm39) |
A260T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,880,642 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TGCCTTCTGTCCCAACAAAC -3'
(R):5'- AGAAGCACGTGATCTTACCTCTC -3'
Sequencing Primer
(F):5'- CTGTCCCAACAAACTTAGTTCC -3'
(R):5'- CGTCCTCGCCATCCACCAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation