Incidental Mutation 'IGL02553:Tsc22d1'
ID |
298586 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tsc22d1
|
Ensembl Gene |
ENSMUSG00000022010 |
Gene Name |
TSC22 domain family, member 1 |
Synonyms |
Tgfb1i4, TSC-22, Egr5 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.293)
|
Stock # |
IGL02553
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
76652401-76745205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76654838 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 357
(N357S)
|
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: N439S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044517 Gene: ENSMUSG00000022010 AA Change: N439S
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: N357S
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106513 Gene: ENSMUSG00000022010 AA Change: N357S
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 |
|
Coding Region Coverage |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,242,750 (GRCm39) |
S1326P |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
Clk2 |
G |
A |
3: 89,083,020 (GRCm39) |
R432H |
probably damaging |
Het |
Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,725,467 (GRCm39) |
D526G |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
G |
2: 120,288,615 (GRCm39) |
T874A |
probably benign |
Het |
Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
Kif5b |
A |
T |
18: 6,220,914 (GRCm39) |
I398N |
probably benign |
Het |
Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
probably 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 |
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 |
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 |
|
Posted On |
2015-04-16 |