Incidental Mutation 'R5378:Tsc22d4'
| ID |
425683 |
| 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 |
042953-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5378 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137744274-137758011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137760726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031738]
[ENSMUST00000100539]
[ENSMUST00000100540]
[ENSMUST00000110983]
[ENSMUST00000110985]
[ENSMUST00000141733]
|
| AlphaFold |
Q9EQN3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031738
AA Change: D49G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031738
Gene: ENSMUSG00000029723
AA Change: D49G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100539
|
| SMART Domains |
Protein: ENSMUSP00000098107
Gene: ENSMUSG00000029723
| 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 benign
Transcript: ENSMUST00000100540
AA Change: D348G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098108
Gene: ENSMUSG00000029723
AA Change: D348G
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110983
AA Change: D49G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106611
Gene: ENSMUSG00000029723
AA Change: D49G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4703
|
20 |
136 |
1.6e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110985
|
| SMART Domains |
Protein: ENSMUSP00000106613
Gene: ENSMUSG00000029723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSC22
|
99 |
158 |
9.1e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129399
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141733
|
| SMART Domains |
Protein: ENSMUSP00000120835
Gene: ENSMUSG00000029723
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TSC22
|
27 |
82 |
6.6e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,396,141 (GRCm39) |
F39L |
probably benign |
Het |
| Abca2 |
T |
G |
2: 25,336,080 (GRCm39) |
L2150R |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,061,865 (GRCm39) |
V3449D |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
| Bora |
A |
G |
14: 99,305,929 (GRCm39) |
N433D |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,778,912 (GRCm39) |
A1159T |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,650 (GRCm39) |
A271V |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,391 (GRCm39) |
T331I |
possibly damaging |
Het |
| Cemip |
A |
G |
7: 83,607,733 (GRCm39) |
S758P |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,385,663 (GRCm39) |
V2206I |
possibly damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,676,007 (GRCm39) |
S412T |
probably benign |
Het |
| Cks1b |
A |
C |
3: 89,323,608 (GRCm39) |
W54G |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,708,872 (GRCm39) |
V630M |
unknown |
Het |
| Dnajb14 |
A |
G |
3: 137,591,139 (GRCm39) |
D30G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 64,985,296 (GRCm39) |
Y785H |
probably damaging |
Het |
| Dsel |
T |
A |
1: 111,790,551 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Esp8 |
G |
A |
17: 40,841,033 (GRCm39) |
C98Y |
unknown |
Het |
| F11 |
C |
A |
8: 45,705,180 (GRCm39) |
M120I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,820,185 (GRCm39) |
F5306S |
possibly damaging |
Het |
| Gm4841 |
T |
C |
18: 60,404,113 (GRCm39) |
|
probably null |
Het |
| Gpr180 |
T |
A |
14: 118,377,251 (GRCm39) |
L84Q |
probably benign |
Het |
| Grwd1 |
A |
T |
7: 45,479,505 (GRCm39) |
D123E |
probably benign |
Het |
| Hsfy2 |
T |
C |
1: 56,675,827 (GRCm39) |
R237G |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,055,993 (GRCm39) |
Y328C |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,030,794 (GRCm39) |
A127T |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,299,750 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,940 (GRCm39) |
V2962A |
unknown |
Het |
| Or52s19 |
T |
A |
7: 103,007,652 (GRCm39) |
I250F |
probably damaging |
Het |
| Or5t15 |
A |
T |
2: 86,681,807 (GRCm39) |
N78K |
probably benign |
Het |
| Otog |
A |
T |
7: 45,904,428 (GRCm39) |
T518S |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,228,639 (GRCm39) |
|
probably null |
Het |
| Pip5kl1 |
A |
T |
2: 32,469,106 (GRCm39) |
T213S |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,330,977 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,035,888 (GRCm39) |
D621V |
probably damaging |
Het |
| Ptgr3 |
G |
A |
18: 84,112,803 (GRCm39) |
A160T |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,007,401 (GRCm39) |
I1655F |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,128,558 (GRCm39) |
K55E |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,633 (GRCm39) |
V196E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,282,861 (GRCm39) |
M434L |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,567,157 (GRCm39) |
H22L |
possibly damaging |
Het |
| Smg6 |
A |
G |
11: 74,932,820 (GRCm39) |
D98G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,489,186 (GRCm39) |
Y527H |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,490,818 (GRCm39) |
V479A |
probably benign |
Het |
| Tdg |
G |
T |
10: 82,477,305 (GRCm39) |
V119L |
probably benign |
Het |
| Trav10d |
G |
A |
14: 53,048,825 (GRCm39) |
R72H |
probably benign |
Het |
| Trgc2 |
T |
C |
13: 19,489,297 (GRCm39) |
Y145C |
unknown |
Het |
| Trim25 |
T |
C |
11: 88,900,093 (GRCm39) |
L280P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,534 (GRCm39) |
|
probably benign |
Het |
| Tyr |
T |
A |
7: 87,121,703 (GRCm39) |
H363L |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,822 (GRCm39) |
S2020P |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,315,928 (GRCm39) |
D2069G |
probably damaging |
Het |
| Vmn1r170 |
T |
C |
7: 23,305,963 (GRCm39) |
W122R |
probably benign |
Het |
| Wdr7 |
G |
A |
18: 63,958,310 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
T |
A |
12: 85,077,029 (GRCm39) |
H793Q |
probably damaging |
Het |
| Zfp266 |
G |
A |
9: 20,410,659 (GRCm39) |
T506I |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,904,300 (GRCm39) |
S1410P |
probably damaging |
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 |
|
|
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 |
|
R8556:Tsc22d4
|
UTSW |
5 |
137,745,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCACATCGATGTCTTTACTGTGGG -3'
(R):5'- TCATCAGAGAACGGCTGTCAC -3'
Sequencing Primer
(F):5'- CACAGACAACTTTTGGGAATCAG -3'
(R):5'- ACGGCTGTCACGATTCGAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation