Incidental Mutation 'R4232:Tsc22d4'
| ID |
320904 |
| 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 |
041051-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4232 (G1)
|
| Quality Score |
183 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137744274-137758011 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 137749632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100539]
[ENSMUST00000100539]
[ENSMUST00000100540]
[ENSMUST00000100540]
|
| AlphaFold |
Q9EQN3 |
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000100540
|
| SMART Domains |
Protein: ENSMUSP00000098108
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:DUF4703
|
319 |
509 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100540
|
| SMART Domains |
Protein: ENSMUSP00000098108
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:DUF4703
|
319 |
509 |
4.5e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129399
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
92% (58/63) |
| 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 |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
| Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
| Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
| Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
| Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
| Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
| P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
| Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
| Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
| Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
| Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
| Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly 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 |
|
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 |
|
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'- CAGTCTTCACCCTATATGATGGTTC -3'
(R):5'- TCTTGACTGAGCCAAGGAGTC -3'
Sequencing Primer
(F):5'- ACCCTATATGATGGTTCCCACTC -3'
(R):5'- AAGGAGTCCCACCCAGCTTTTTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation