Incidental Mutation 'R4640:Tmem104'
| ID |
351619 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem104
|
| Ensembl Gene |
ENSMUSG00000045980 |
| Gene Name |
transmembrane protein 104 |
| Synonyms |
C630005D06Rik |
| MMRRC Submission |
041902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4640 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115078313-115137849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115134550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 362
(V362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061450]
[ENSMUST00000100235]
|
| AlphaFold |
Q3TB48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061450
AA Change: V362E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: V362E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
77 |
3.4e-10 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
128 |
487 |
4.5e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100235
AA Change: V361E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: V361E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aa_trans
|
13 |
81 |
5.5e-11 |
PFAM |
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
127 |
485 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156230
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
93% (39/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgrl4 |
T |
C |
3: 151,205,947 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,434 (GRCm39) |
|
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,952,297 (GRCm39) |
S463T |
probably benign |
Het |
| Cfap251 |
G |
T |
5: 123,440,495 (GRCm39) |
V1094L |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,894,093 (GRCm39) |
N98S |
probably damaging |
Het |
| Copz2 |
A |
T |
11: 96,747,533 (GRCm39) |
Q172L |
possibly damaging |
Het |
| Ctdp1 |
C |
A |
18: 80,494,369 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
C |
T |
7: 55,563,199 (GRCm39) |
T865I |
possibly damaging |
Het |
| Cyp2c37 |
A |
T |
19: 40,000,276 (GRCm39) |
D466V |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,682,507 (GRCm39) |
L380P |
possibly damaging |
Het |
| Fam124b |
G |
A |
1: 80,191,243 (GRCm39) |
R47C |
probably damaging |
Het |
| Foxe3 |
G |
A |
4: 114,782,972 (GRCm39) |
A80V |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,734 (GRCm39) |
|
noncoding transcript |
Het |
| Kera |
A |
T |
10: 97,448,749 (GRCm39) |
Y323F |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,946,197 (GRCm39) |
Y205F |
probably damaging |
Het |
| Lipo2 |
T |
C |
19: 33,698,237 (GRCm39) |
E380G |
probably benign |
Het |
| Mcm2 |
A |
T |
6: 88,864,786 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,974 (GRCm39) |
E409G |
probably benign |
Het |
| Mns1 |
A |
G |
9: 72,346,564 (GRCm39) |
K16E |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,349,153 (GRCm38) |
|
noncoding transcript |
Het |
| Nrxn1 |
A |
G |
17: 90,868,196 (GRCm39) |
S1105P |
probably damaging |
Het |
| Odf2l |
G |
A |
3: 144,834,706 (GRCm39) |
R186H |
probably damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,274 (GRCm39) |
T16S |
probably benign |
Het |
| Or2d3c |
T |
C |
7: 106,525,800 (GRCm39) |
I289V |
possibly damaging |
Het |
| Phxr2 |
T |
C |
10: 98,961,931 (GRCm39) |
|
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,725 (GRCm39) |
F243S |
probably damaging |
Het |
| Ppp1r27 |
T |
C |
11: 120,441,553 (GRCm39) |
N76D |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 22,972,797 (GRCm39) |
T236A |
probably damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,102,975 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,552,616 (GRCm39) |
Q193L |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,827,698 (GRCm39) |
S39G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,564,513 (GRCm39) |
V883A |
probably damaging |
Het |
|
| Other mutations in Tmem104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Tmem104
|
APN |
11 |
115,134,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02948:Tmem104
|
APN |
11 |
115,088,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Tmem104
|
APN |
11 |
115,134,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0107:Tmem104
|
UTSW |
11 |
115,093,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Tmem104
|
UTSW |
11 |
115,092,134 (GRCm39) |
splice site |
probably benign |
|
|
R0534:Tmem104
|
UTSW |
11 |
115,091,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Tmem104
|
UTSW |
11 |
115,134,373 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2037:Tmem104
|
UTSW |
11 |
115,092,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4095:Tmem104
|
UTSW |
11 |
115,134,749 (GRCm39) |
nonsense |
probably null |
|
|
R4981:Tmem104
|
UTSW |
11 |
115,095,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Tmem104
|
UTSW |
11 |
115,134,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Tmem104
|
UTSW |
11 |
115,092,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5522:Tmem104
|
UTSW |
11 |
115,079,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5602:Tmem104
|
UTSW |
11 |
115,095,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Tmem104
|
UTSW |
11 |
115,096,349 (GRCm39) |
nonsense |
probably null |
|
|
R6247:Tmem104
|
UTSW |
11 |
115,134,819 (GRCm39) |
missense |
probably benign |
|
|
R6522:Tmem104
|
UTSW |
11 |
115,134,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7962:Tmem104
|
UTSW |
11 |
115,134,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7980:Tmem104
|
UTSW |
11 |
115,134,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Tmem104
|
UTSW |
11 |
115,134,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Tmem104
|
UTSW |
11 |
115,088,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Tmem104
|
UTSW |
11 |
115,092,144 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9363:Tmem104
|
UTSW |
11 |
115,134,691 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9507:Tmem104
|
UTSW |
11 |
115,091,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTACTCGTTCATGTGCCAAC -3'
(R):5'- ATAGGCTCCTGTAATGGCCACC -3'
Sequencing Primer
(F):5'- GTGCCAACACTCCCTGC -3'
(R):5'- CCAGGGACTCCAGGTCATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation