Incidental Mutation 'R9150:Tsc22d1'
| ID |
694986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc22d1
|
| Ensembl Gene |
ENSMUSG00000022010 |
| Gene Name |
TSC22 domain family, member 1 |
| Synonyms |
Tgfb1i4, TSC-22, Egr5 |
| MMRRC Submission |
068938-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R9150 (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 76654056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 178
(N178K)
|
| 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: N178K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044517
Gene: ENSMUSG00000022010
AA Change: N178K
| 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 |
unknown
Transcript: ENSMUST00000110888
AA Change: N178K
|
| SMART Domains |
Protein: ENSMUSP00000106513
Gene: ENSMUSG00000022010
AA Change: N178K
| 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: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
CTCCGGTGAGTGCCTCATCC |
CTCC |
5: 137,553,354 (GRCm39) |
|
probably null |
Het |
| Ampd1 |
A |
T |
3: 102,988,359 (GRCm39) |
I101F |
possibly damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,673,614 (GRCm39) |
V92A |
possibly damaging |
Het |
| Arih1 |
C |
A |
9: 59,344,069 (GRCm39) |
L189F |
possibly damaging |
Het |
| B4galt3 |
A |
G |
1: 171,103,899 (GRCm39) |
R379G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,590,378 (GRCm39) |
N642D |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,299 (GRCm39) |
H207R |
probably benign |
Het |
| Dcps |
A |
T |
9: 35,035,938 (GRCm39) |
L316H |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,825,103 (GRCm39) |
Y142C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,755,791 (GRCm39) |
V821E |
probably benign |
Het |
| Fam181a |
A |
T |
12: 103,282,139 (GRCm39) |
N15Y |
probably damaging |
Het |
| Gm26657 |
G |
T |
4: 56,740,835 (GRCm39) |
E7* |
probably null |
Het |
| Gm8267 |
A |
T |
14: 44,955,362 (GRCm39) |
S220T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,251 (GRCm39) |
G784R |
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,524,657 (GRCm39) |
L215P |
|
Het |
| Gtpbp1 |
A |
G |
15: 79,592,165 (GRCm39) |
D252G |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,103,448 (GRCm39) |
V1135A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,498,205 (GRCm39) |
T397A |
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,286,030 (GRCm39) |
K752Q |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,208 (GRCm39) |
T201A |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,110 (GRCm39) |
N85K |
|
Het |
| Mdga1 |
T |
C |
17: 30,057,420 (GRCm39) |
T92A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,387,820 (GRCm39) |
D421E |
probably benign |
Het |
| Oga |
A |
T |
19: 45,771,421 (GRCm39) |
V50E |
probably benign |
Het |
| Or13g1 |
G |
C |
7: 85,955,942 (GRCm39) |
F126L |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,005 (GRCm39) |
C169* |
probably null |
Het |
| Or5m3 |
A |
T |
2: 85,838,626 (GRCm39) |
K169* |
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,336 (GRCm39) |
M258K |
probably damaging |
Het |
| Pcdhga5 |
A |
C |
18: 37,827,933 (GRCm39) |
N127T |
probably damaging |
Het |
| Phyhipl |
A |
T |
10: 70,404,887 (GRCm39) |
V107E |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,786,256 (GRCm39) |
R2383C |
|
Het |
| Ppp1r16a |
G |
A |
15: 76,575,054 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,531 (GRCm39) |
Y158C |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,399 (GRCm39) |
V142A |
|
Het |
| Sgcd |
C |
T |
11: 46,870,170 (GRCm39) |
V264I |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,763 (GRCm39) |
S247P |
probably benign |
Het |
| Slc17a7 |
T |
G |
7: 44,820,167 (GRCm39) |
Y241D |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,915 (GRCm39) |
K724* |
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,101 (GRCm39) |
I537F |
possibly damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,091,359 (GRCm39) |
Q33L |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,244,468 (GRCm39) |
R189Q |
unknown |
Het |
| Srd5a3 |
T |
A |
5: 76,297,615 (GRCm39) |
L139Q |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,985 (GRCm39) |
Y38* |
probably null |
Het |
| Tln2 |
A |
T |
9: 67,128,778 (GRCm39) |
M1437K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,687,401 (GRCm39) |
I467T |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,398,691 (GRCm39) |
I599N |
probably damaging |
Het |
| Trmt112 |
T |
A |
19: 6,887,620 (GRCm39) |
L23Q |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,375,850 (GRCm39) |
Y476C |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,274 (GRCm39) |
W83R |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,783 (GRCm39) |
H403L |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,586,809 (GRCm39) |
I167N |
probably benign |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,039,603 (GRCm39) |
Q401* |
probably null |
Het |
| Zfp715 |
T |
A |
7: 42,948,713 (GRCm39) |
I416F |
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 |
|
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 |
|
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'- AGATCTCTGCCAGCATCAGC -3'
(R):5'- AGAGTTTCCTGGACACTGGG -3'
Sequencing Primer
(F):5'- CTCCAACAACAGCATCGCGG -3'
(R):5'- CAGCATGTGATGAATGATGGTGCC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation