Incidental Mutation 'R8556:Tsc22d4'
ID |
660099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc22d4
|
Ensembl Gene |
ENSMUSG00000029723 |
Gene Name |
Tsc22 domain family, member 4 |
Synonyms |
1700023B23Rik, Spacdr, 0610009M14Rik, Tsc22d4, Thg-1pit |
MMRRC Submission |
068519-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8556 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137744274-137758011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 137745849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 158
(S158P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098107
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100539]
[ENSMUST00000100540]
|
AlphaFold |
Q9EQN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100539
AA Change: S158P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098107 Gene: ENSMUSG00000029723 AA Change: S158P
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
61 |
N/A |
INTRINSIC |
low complexity region
|
111 |
123 |
N/A |
INTRINSIC |
low complexity region
|
190 |
199 |
N/A |
INTRINSIC |
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
Pfam:TSC22
|
318 |
377 |
5.9e-32 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100540
AA Change: S158P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000098108 Gene: ENSMUSG00000029723 AA Change: S158P
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
61 |
N/A |
INTRINSIC |
low complexity region
|
111 |
123 |
N/A |
INTRINSIC |
low complexity region
|
190 |
199 |
N/A |
INTRINSIC |
low complexity region
|
277 |
291 |
N/A |
INTRINSIC |
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
Pfam:DUF4703
|
319 |
509 |
4.5e-82 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
A |
T |
11: 69,904,376 (GRCm39) |
M148K |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
Adgrl4 |
T |
C |
3: 151,216,302 (GRCm39) |
I495T |
probably damaging |
Het |
Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
Cdan1 |
C |
T |
2: 120,553,471 (GRCm39) |
V971M |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
Rrbp1 |
A |
T |
2: 143,831,045 (GRCm39) |
V374D |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,127,593 (GRCm39) |
|
probably null |
Het |
Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
Zbtb7b |
T |
C |
3: 89,300,444 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tsc22d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
mastodon
|
UTSW |
5 |
137,749,632 (GRCm39) |
critical splice donor site |
probably null |
|
Pachyderm
|
UTSW |
5 |
137,749,627 (GRCm39) |
missense |
probably null |
0.98 |
BB001:Tsc22d4
|
UTSW |
5 |
137,766,273 (GRCm39) |
missense |
unknown |
|
BB002:Tsc22d4
|
UTSW |
5 |
137,749,627 (GRCm39) |
missense |
probably null |
0.98 |
BB011:Tsc22d4
|
UTSW |
5 |
137,766,273 (GRCm39) |
missense |
unknown |
|
BB012:Tsc22d4
|
UTSW |
5 |
137,749,627 (GRCm39) |
missense |
probably null |
0.98 |
R0103:Tsc22d4
|
UTSW |
5 |
137,745,378 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
R0570:Tsc22d4
|
UTSW |
5 |
137,760,681 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0600:Tsc22d4
|
UTSW |
5 |
137,760,917 (GRCm39) |
missense |
probably damaging |
0.97 |
R0658:Tsc22d4
|
UTSW |
5 |
137,766,283 (GRCm39) |
missense |
probably benign |
|
R2073:Tsc22d4
|
UTSW |
5 |
137,760,749 (GRCm39) |
missense |
possibly damaging |
0.45 |
R3772:Tsc22d4
|
UTSW |
5 |
137,757,495 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4012:Tsc22d4
|
UTSW |
5 |
137,756,590 (GRCm39) |
missense |
probably benign |
0.02 |
R4232:Tsc22d4
|
UTSW |
5 |
137,749,632 (GRCm39) |
critical splice donor site |
probably null |
|
R5378:Tsc22d4
|
UTSW |
5 |
137,760,726 (GRCm39) |
missense |
probably damaging |
0.99 |
R5394:Tsc22d4
|
UTSW |
5 |
137,757,036 (GRCm39) |
intron |
probably benign |
|
R5677:Tsc22d4
|
UTSW |
5 |
137,745,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R5765:Tsc22d4
|
UTSW |
5 |
137,756,805 (GRCm39) |
missense |
probably benign |
0.04 |
R6184:Tsc22d4
|
UTSW |
5 |
137,757,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R6263:Tsc22d4
|
UTSW |
5 |
137,766,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6700:Tsc22d4
|
UTSW |
5 |
137,756,785 (GRCm39) |
missense |
probably benign |
0.04 |
R6821:Tsc22d4
|
UTSW |
5 |
137,760,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6877:Tsc22d4
|
UTSW |
5 |
137,760,855 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7354:Tsc22d4
|
UTSW |
5 |
137,766,371 (GRCm39) |
missense |
probably benign |
0.12 |
R7376:Tsc22d4
|
UTSW |
5 |
137,756,414 (GRCm39) |
missense |
unknown |
|
R7499:Tsc22d4
|
UTSW |
5 |
137,745,985 (GRCm39) |
missense |
probably benign |
0.19 |
R7731:Tsc22d4
|
UTSW |
5 |
137,756,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7924:Tsc22d4
|
UTSW |
5 |
137,766,273 (GRCm39) |
missense |
unknown |
|
R7925:Tsc22d4
|
UTSW |
5 |
137,749,627 (GRCm39) |
missense |
probably null |
0.98 |
R9082:Tsc22d4
|
UTSW |
5 |
137,749,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R9569:Tsc22d4
|
UTSW |
5 |
137,756,428 (GRCm39) |
missense |
probably benign |
|
Z1186:Tsc22d4
|
UTSW |
5 |
137,756,611 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCCTTATCGTCGAGGTC -3'
(R):5'- GACTCCACTTCTACCCTCAGAGAG -3'
Sequencing Primer
(F):5'- TTTACGAGAGAGATCTGGAGCCTC -3'
(R):5'- GGGCAGGGTCTGAGCACTATC -3'
|
Posted On |
2021-01-18 |