Incidental Mutation 'IGL00490:Tmem236'
| ID |
7278 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem236
|
| Ensembl Gene |
ENSMUSG00000061531 |
| Gene Name |
transmembrane protein 236 |
| Synonyms |
Fam23a, 2010003H20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL00490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
14179335-14226804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14224189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 326
(Y326C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077517]
|
| AlphaFold |
A2ARJ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077517
AA Change: Y326C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: Y326C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
transmembrane domain
|
82 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
143 |
N/A |
INTRINSIC |
|
transmembrane domain
|
256 |
275 |
N/A |
INTRINSIC |
|
transmembrane domain
|
295 |
314 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
A |
G |
4: 129,905,665 (GRCm39) |
E837G |
possibly damaging |
Het |
| Atp13a3 |
A |
G |
16: 30,171,172 (GRCm39) |
M291T |
probably benign |
Het |
| Coq8b |
C |
A |
7: 26,956,902 (GRCm39) |
H518Q |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,067 (GRCm39) |
D388G |
probably damaging |
Het |
| Cyp2d10 |
A |
T |
15: 82,287,515 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ddr2 |
A |
T |
1: 169,832,763 (GRCm39) |
L99H |
probably damaging |
Het |
| Dennd1a |
G |
T |
2: 37,691,164 (GRCm39) |
D251E |
probably damaging |
Het |
| Fam210a |
G |
T |
18: 68,401,983 (GRCm39) |
T210N |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,364,572 (GRCm39) |
Q951K |
probably damaging |
Het |
| Gramd1b |
T |
A |
9: 40,221,337 (GRCm39) |
I280F |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,731,526 (GRCm39) |
K335N |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,770 (GRCm39) |
T993S |
possibly damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,747,413 (GRCm39) |
L484P |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,877,423 (GRCm39) |
V358E |
unknown |
Het |
| Mzt1 |
A |
G |
14: 99,278,106 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,523,623 (GRCm39) |
H514Q |
possibly damaging |
Het |
| Nup214 |
G |
A |
2: 31,923,991 (GRCm39) |
E2K |
probably damaging |
Het |
| Pcdhb4 |
G |
T |
18: 37,442,969 (GRCm39) |
G760W |
possibly damaging |
Het |
| Ptger2 |
T |
C |
14: 45,239,198 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Smcr8 |
T |
A |
11: 60,669,458 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,740,621 (GRCm39) |
D46E |
probably damaging |
Het |
| Tbc1d32 |
G |
A |
10: 56,031,861 (GRCm39) |
P689L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,070,930 (GRCm39) |
W2123L |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,845,048 (GRCm39) |
E8G |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,740,692 (GRCm39) |
G573R |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,035 (GRCm39) |
T2320I |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,816 (GRCm39) |
N435S |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,921,858 (GRCm39) |
N77D |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,628,948 (GRCm39) |
I373N |
probably damaging |
Het |
|
| Other mutations in Tmem236 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Tmem236
|
APN |
2 |
14,179,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Tmem236
|
APN |
2 |
14,223,716 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02749:Tmem236
|
APN |
2 |
14,224,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Tmem236
|
UTSW |
2 |
14,223,694 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1470:Tmem236
|
UTSW |
2 |
14,223,732 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1470:Tmem236
|
UTSW |
2 |
14,223,732 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1519:Tmem236
|
UTSW |
2 |
14,197,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1923:Tmem236
|
UTSW |
2 |
14,224,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Tmem236
|
UTSW |
2 |
14,223,861 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4226:Tmem236
|
UTSW |
2 |
14,179,437 (GRCm39) |
nonsense |
probably null |
|
|
R4551:Tmem236
|
UTSW |
2 |
14,223,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4904:Tmem236
|
UTSW |
2 |
14,200,803 (GRCm39) |
missense |
probably benign |
|
|
R5168:Tmem236
|
UTSW |
2 |
14,197,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5283:Tmem236
|
UTSW |
2 |
14,179,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5306:Tmem236
|
UTSW |
2 |
14,223,975 (GRCm39) |
nonsense |
probably null |
|
|
R5334:Tmem236
|
UTSW |
2 |
14,223,871 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6516:Tmem236
|
UTSW |
2 |
14,200,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6604:Tmem236
|
UTSW |
2 |
14,179,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7689:Tmem236
|
UTSW |
2 |
14,197,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8390:Tmem236
|
UTSW |
2 |
14,224,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Tmem236
|
UTSW |
2 |
14,223,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9630:Tmem236
|
UTSW |
2 |
14,223,815 (GRCm39) |
missense |
probably benign |
|
|
X0062:Tmem236
|
UTSW |
2 |
14,224,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmem236
|
UTSW |
2 |
14,179,538 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation