Incidental Mutation 'R5052:Tmco4'
| ID |
394689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmco4
|
| Ensembl Gene |
ENSMUSG00000041143 |
| Gene Name |
transmembrane and coiled-coil domains 4 |
| Synonyms |
4632413C14Rik |
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
138700199-138786482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138785817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 629
(E629G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043042]
[ENSMUST00000050949]
[ENSMUST00000068036]
[ENSMUST00000105802]
|
| AlphaFold |
Q91WU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043042
AA Change: E629G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143
AA Change: E629G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF726
|
182 |
518 |
1.1e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050949
AA Change: E629G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143
AA Change: E629G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF726
|
182 |
518 |
5.3e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068036
|
| SMART Domains |
Protein: ENSMUSP00000068333
Gene: ENSMUSG00000028747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
43 |
322 |
4.6e-63 |
PFAM |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105802
|
| SMART Domains |
Protein: ENSMUSP00000101428
Gene: ENSMUSG00000028747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
43 |
322 |
1.9e-72 |
PFAM |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
Het |
|
| Other mutations in Tmco4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00741:Tmco4
|
APN |
4 |
138,723,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01346:Tmco4
|
APN |
4 |
138,748,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02552:Tmco4
|
APN |
4 |
138,785,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02644:Tmco4
|
APN |
4 |
138,737,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL02676:Tmco4
|
APN |
4 |
138,750,380 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02741:Tmco4
|
APN |
4 |
138,757,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Tmco4
|
UTSW |
4 |
138,781,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Tmco4
|
UTSW |
4 |
138,747,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4034:Tmco4
|
UTSW |
4 |
138,748,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Tmco4
|
UTSW |
4 |
138,717,871 (GRCm39) |
missense |
probably benign |
|
|
R4785:Tmco4
|
UTSW |
4 |
138,725,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4981:Tmco4
|
UTSW |
4 |
138,718,012 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5040:Tmco4
|
UTSW |
4 |
138,747,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Tmco4
|
UTSW |
4 |
138,785,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5364:Tmco4
|
UTSW |
4 |
138,779,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5445:Tmco4
|
UTSW |
4 |
138,748,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5598:Tmco4
|
UTSW |
4 |
138,781,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6959:Tmco4
|
UTSW |
4 |
138,737,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7539:Tmco4
|
UTSW |
4 |
138,749,010 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7662:Tmco4
|
UTSW |
4 |
138,737,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7981:Tmco4
|
UTSW |
4 |
138,785,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Tmco4
|
UTSW |
4 |
138,748,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Tmco4
|
UTSW |
4 |
138,781,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9460:Tmco4
|
UTSW |
4 |
138,747,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Tmco4
|
UTSW |
4 |
138,779,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9552:Tmco4
|
UTSW |
4 |
138,779,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATACCTTCCAGTGCCAG -3'
(R):5'- CAGGAGCCTACACTGGTTTAGC -3'
Sequencing Primer
(F):5'- TTCCAGTGCCAGCCAAGC -3'
(R):5'- CCTACACTGGTTTAGCGCTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation