Incidental Mutation 'R6011:Tmx4'
| ID |
479744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmx4
|
| Ensembl Gene |
ENSMUSG00000034723 |
| Gene Name |
thioredoxin-related transmembrane protein 4 |
| Synonyms |
2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik |
| MMRRC Submission |
043253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134436421-134486041 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134481756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 56
(Y56N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045154
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038228]
[ENSMUST00000110119]
[ENSMUST00000110120]
|
| AlphaFold |
Q8C0L0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038228
AA Change: Y56N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: Y56N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
34 |
134 |
5.9e-14 |
PFAM |
|
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110119
AA Change: Y56N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105746
Gene: ENSMUSG00000034723
AA Change: Y56N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
34 |
100 |
5.6e-11 |
PFAM |
|
transmembrane domain
|
132 |
154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110120
AA Change: Y56N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: Y56N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
34 |
134 |
4.2e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137377
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,136,570 (GRCm39) |
N533K |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,814,082 (GRCm39) |
H694Q |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 34,977,598 (GRCm39) |
L377P |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,075,607 (GRCm39) |
L252P |
probably damaging |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,331,962 (GRCm39) |
L39P |
probably damaging |
Het |
| Asic1 |
G |
T |
15: 99,596,960 (GRCm39) |
A541S |
probably benign |
Het |
| Bhmt1b |
A |
G |
18: 87,774,663 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,496 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
A |
G |
13: 55,934,305 (GRCm39) |
I75M |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,601,532 (GRCm39) |
E837G |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,705,315 (GRCm39) |
P557L |
probably benign |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,523,038 (GRCm39) |
D140E |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,130,380 (GRCm39) |
K72E |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,738,084 (GRCm39) |
|
probably null |
Het |
| Disp2 |
G |
A |
2: 118,621,301 (GRCm39) |
V678I |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,867,756 (GRCm39) |
|
probably null |
Het |
| Eml3 |
T |
C |
19: 8,916,471 (GRCm39) |
Y688H |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,267 (GRCm39) |
K24E |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,068 (GRCm38) |
K134E |
probably benign |
Het |
| Foxl3 |
A |
G |
5: 138,807,374 (GRCm39) |
*217W |
probably null |
Het |
| Gm16485 |
A |
T |
9: 8,972,454 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,096 (GRCm39) |
T304I |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,847 (GRCm39) |
S310G |
probably damaging |
Het |
| Muc21 |
T |
A |
17: 35,933,074 (GRCm39) |
|
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,812,877 (GRCm39) |
Y482H |
probably damaging |
Het |
| Or12e13 |
A |
G |
2: 87,664,259 (GRCm39) |
N292S |
probably damaging |
Het |
| Or4k42 |
C |
A |
2: 111,320,192 (GRCm39) |
A104S |
probably benign |
Het |
| Or6c8b |
A |
T |
10: 128,882,508 (GRCm39) |
H141Q |
probably benign |
Het |
| Or7g25 |
T |
A |
9: 19,159,807 (GRCm39) |
E296V |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,521 (GRCm39) |
V46I |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,302 (GRCm39) |
S52P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,096,080 (GRCm39) |
N528S |
probably benign |
Het |
| Rfc3 |
T |
A |
5: 151,567,184 (GRCm39) |
I291L |
probably damaging |
Het |
| Rpl35 |
A |
T |
2: 38,894,813 (GRCm39) |
|
probably null |
Het |
| Sectm1b |
C |
T |
11: 120,946,704 (GRCm39) |
V64I |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,001,993 (GRCm39) |
M241T |
probably damaging |
Het |
| Serpina1a |
T |
A |
12: 103,823,728 (GRCm39) |
D195V |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,226,708 (GRCm39) |
V129M |
probably damaging |
Het |
| Slc4a1 |
A |
C |
11: 102,243,357 (GRCm39) |
V758G |
probably damaging |
Het |
| Traj50 |
T |
C |
14: 54,405,091 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
G |
15: 27,735,631 (GRCm39) |
K2820Q |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,434,309 (GRCm39) |
G2417S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,922,923 (GRCm39) |
D665G |
possibly damaging |
Het |
|
| Other mutations in Tmx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0033:Tmx4
|
UTSW |
2 |
134,442,918 (GRCm39) |
splice site |
probably null |
|
|
R0033:Tmx4
|
UTSW |
2 |
134,442,918 (GRCm39) |
splice site |
probably null |
|
|
R0124:Tmx4
|
UTSW |
2 |
134,481,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0311:Tmx4
|
UTSW |
2 |
134,440,446 (GRCm39) |
makesense |
probably null |
|
|
R0844:Tmx4
|
UTSW |
2 |
134,441,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3804:Tmx4
|
UTSW |
2 |
134,462,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3964:Tmx4
|
UTSW |
2 |
134,441,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3966:Tmx4
|
UTSW |
2 |
134,441,981 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4296:Tmx4
|
UTSW |
2 |
134,440,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Tmx4
|
UTSW |
2 |
134,481,425 (GRCm39) |
intron |
probably benign |
|
|
R6463:Tmx4
|
UTSW |
2 |
134,462,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6810:Tmx4
|
UTSW |
2 |
134,462,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6882:Tmx4
|
UTSW |
2 |
134,485,922 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6912:Tmx4
|
UTSW |
2 |
134,440,719 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7483:Tmx4
|
UTSW |
2 |
134,481,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7545:Tmx4
|
UTSW |
2 |
134,451,425 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7737:Tmx4
|
UTSW |
2 |
134,481,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7857:Tmx4
|
UTSW |
2 |
134,481,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8177:Tmx4
|
UTSW |
2 |
134,485,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8266:Tmx4
|
UTSW |
2 |
134,481,461 (GRCm39) |
missense |
unknown |
|
|
R8473:Tmx4
|
UTSW |
2 |
134,451,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9647:Tmx4
|
UTSW |
2 |
134,481,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Tmx4
|
UTSW |
2 |
134,440,571 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGAACATTTCTAAGCAAGCAG -3'
(R):5'- GCTTGGAACATGTTTTCCTCAAAG -3'
Sequencing Primer
(F):5'- GTTGCTAAGCATTCCCATCTATAGAC -3'
(R):5'- TTCCTCAAAGATCAAAGCTAGAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation