Incidental Mutation 'R6184:Tsc22d4'
ID |
488142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc22d4
|
Ensembl Gene |
ENSMUSG00000029723 |
Gene Name |
Tsc22 domain family, member 4 |
Synonyms |
1700023B23Rik, Spacdr, 0610009M14Rik, Tsc22d4, Thg-1pit |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6184 (G1)
|
Quality Score |
95.0077 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
137744274-137758011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137757351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 35
(M35K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120835
(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
AA Change: M326K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000098107 Gene: ENSMUSG00000029723 AA Change: M326K
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 damaging
Transcript: ENSMUST00000110985
AA Change: M107K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106613 Gene: ENSMUSG00000029723 AA Change: M107K
Domain | Start | End | E-Value | Type |
Pfam:TSC22
|
99 |
158 |
9.1e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129399
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141733
AA Change: M35K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120835 Gene: ENSMUSG00000029723 AA Change: M35K
Domain | Start | End | E-Value | Type |
Pfam:TSC22
|
27 |
82 |
6.6e-32 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
A |
G |
12: 17,057,179 (GRCm39) |
F106S |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,581,957 (GRCm39) |
F4696I |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,756,047 (GRCm39) |
I1073V |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,884,033 (GRCm39) |
D415E |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,390,792 (GRCm39) |
|
probably null |
Het |
Coro2a |
T |
C |
4: 46,540,504 (GRCm39) |
T472A |
probably benign |
Het |
D130043K22Rik |
T |
A |
13: 25,069,574 (GRCm39) |
F878I |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,787,127 (GRCm39) |
D80E |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,506,481 (GRCm39) |
V2E |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,867,896 (GRCm39) |
H1508R |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,176,656 (GRCm39) |
N344S |
probably benign |
Het |
Eml5 |
A |
G |
12: 98,829,388 (GRCm39) |
V503A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,406,429 (GRCm39) |
H1060R |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,251,814 (GRCm39) |
R233Q |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,890,211 (GRCm39) |
K238R |
probably damaging |
Het |
Flg |
T |
A |
3: 93,187,357 (GRCm39) |
S270T |
probably benign |
Het |
Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,519,659 (GRCm39) |
V32D |
probably damaging |
Het |
Gnl2 |
T |
G |
4: 124,948,022 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
Il2ra |
T |
A |
2: 11,652,790 (GRCm39) |
|
probably benign |
Het |
Kics2 |
T |
C |
10: 121,586,810 (GRCm39) |
L375P |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,854,499 (GRCm39) |
M254K |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,835,039 (GRCm39) |
I258T |
probably benign |
Het |
Mbnl1 |
T |
C |
3: 60,523,165 (GRCm39) |
L328S |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 25,001,430 (GRCm39) |
D277G |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,014,005 (GRCm39) |
I364V |
probably benign |
Het |
Myh7 |
G |
A |
14: 55,226,315 (GRCm39) |
R442C |
probably damaging |
Het |
Nin |
A |
G |
12: 70,090,511 (GRCm39) |
L968P |
probably damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,404 (GRCm39) |
T241A |
probably damaging |
Het |
Or5w14 |
A |
T |
2: 87,542,188 (GRCm39) |
Y21N |
probably benign |
Het |
Or8g53 |
T |
G |
9: 39,683,916 (GRCm39) |
Y60S |
probably damaging |
Het |
Per1 |
C |
T |
11: 68,993,730 (GRCm39) |
P403S |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,661,730 (GRCm39) |
I723V |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,153,943 (GRCm38) |
T555A |
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,703,194 (GRCm39) |
M187I |
probably benign |
Het |
Sec31a |
A |
G |
5: 100,517,453 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Stx1b |
G |
A |
7: 127,407,077 (GRCm39) |
T206I |
possibly damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,343,218 (GRCm39) |
K452E |
probably damaging |
Het |
Zfp386 |
A |
G |
12: 116,024,133 (GRCm39) |
N582S |
possibly damaging |
Het |
Zfp457 |
A |
G |
13: 67,440,976 (GRCm39) |
V437A |
possibly damaging |
Het |
Zfp599 |
T |
C |
9: 22,160,947 (GRCm39) |
Y406C |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,315,501 (GRCm39) |
S1325F |
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 |
|
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 |
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'- AACCTCCATCCCTGTCTGAG -3'
(R):5'- CCCAAAGGCACATTGTGAGG -3'
Sequencing Primer
(F):5'- TTGACCGACTGCTGCCCTG -3'
(R):5'- AGGCTCAGATGGAGGGCC -3'
|
Posted On |
2017-10-10 |