Incidental Mutation 'IGL02076:Tmem33'
| ID |
185993 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem33
|
| Ensembl Gene |
ENSMUSG00000037720 |
| Gene Name |
transmembrane protein 33 |
| Synonyms |
2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
IGL02076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
67417908-67448804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67443446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 208
(F208L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037918]
[ENSMUST00000160352]
[ENSMUST00000161369]
[ENSMUST00000201979]
|
| AlphaFold |
Q9CR67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037918
AA Change: F208L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: F208L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
1 |
247 |
9.8e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160352
AA Change: F208L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: F208L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
1 |
246 |
2.8e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161369
AA Change: F208L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: F208L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
7 |
245 |
1.8e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201979
|
| SMART Domains |
Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
7 |
61 |
5.9e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
| Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
| Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
| Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
| Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
| Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
| Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
| Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
| Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
probably damaging |
Het |
|
| Other mutations in Tmem33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Tmem33
|
APN |
5 |
67,441,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03106:Tmem33
|
APN |
5 |
67,421,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
commonplace
|
UTSW |
5 |
67,421,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0573:Tmem33
|
UTSW |
5 |
67,421,603 (GRCm39) |
intron |
probably benign |
|
|
R0839:Tmem33
|
UTSW |
5 |
67,421,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1129:Tmem33
|
UTSW |
5 |
67,421,803 (GRCm39) |
splice site |
probably null |
|
|
R1438:Tmem33
|
UTSW |
5 |
67,424,634 (GRCm39) |
splice site |
probably null |
|
|
R1692:Tmem33
|
UTSW |
5 |
67,425,897 (GRCm39) |
missense |
probably null |
0.57 |
|
R4513:Tmem33
|
UTSW |
5 |
67,443,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4763:Tmem33
|
UTSW |
5 |
67,443,479 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6298:Tmem33
|
UTSW |
5 |
67,425,894 (GRCm39) |
nonsense |
probably null |
|
|
R6673:Tmem33
|
UTSW |
5 |
67,443,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6813:Tmem33
|
UTSW |
5 |
67,421,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7186:Tmem33
|
UTSW |
5 |
67,421,130 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7378:Tmem33
|
UTSW |
5 |
67,443,476 (GRCm39) |
missense |
probably benign |
|
|
R8402:Tmem33
|
UTSW |
5 |
67,424,718 (GRCm39) |
splice site |
probably benign |
|
|
R9747:Tmem33
|
UTSW |
5 |
67,425,922 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2014-05-07 |
Incidental Mutation