Incidental Mutation 'R6700:Tsc22d4'
ID |
528206 |
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 |
044818-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6700 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137744274-137758011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137756785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 71
(D71G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031738]
[ENSMUST00000100539]
[ENSMUST00000100540]
[ENSMUST00000110983]
[ENSMUST00000110985]
[ENSMUST00000141733]
|
AlphaFold |
Q9EQN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031738
|
SMART Domains |
Protein: ENSMUSP00000031738 Gene: ENSMUSG00000029723
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
|
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 benign
Transcript: ENSMUST00000110983
|
SMART Domains |
Protein: ENSMUSP00000106611 Gene: ENSMUSG00000029723
Domain | Start | End | E-Value | Type |
Pfam:DUF4703
|
20 |
136 |
1.6e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110985
AA Change: D71G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000106613 Gene: ENSMUSG00000029723 AA Change: D71G
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
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 |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
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 |
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 |
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'- ATGACCCTCAGGAATGTCCC -3'
(R):5'- TCTTGTTGTCAATGCCAACCAG -3'
Sequencing Primer
(F):5'- TCTGTGAAGTCCTTGGTATCATC -3'
(R):5'- AGGCTTCCGGAACCACTG -3'
|
Posted On |
2018-07-24 |