Incidental Mutation 'IGL00417:Tmem62'
| ID |
7066 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem62
|
| Ensembl Gene |
ENSMUSG00000054484 |
| Gene Name |
transmembrane protein 62 |
| Synonyms |
B830009D23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL00417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
120807498-120838333 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 120837445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060455]
[ENSMUST00000067582]
[ENSMUST00000099488]
[ENSMUST00000099489]
[ENSMUST00000110686]
[ENSMUST00000139428]
[ENSMUST00000171260]
|
| AlphaFold |
Q8BXJ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000060455
|
| SMART Domains |
Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
50 |
318 |
4.2e-93 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067582
AA Change: I584R
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
AA Change: I584R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
56 |
261 |
7.3e-11 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083949
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099488
|
| SMART Domains |
Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
50 |
311 |
4.8e-90 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099489
|
| SMART Domains |
Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
3 |
271 |
3.7e-93 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110686
AA Change: I454R
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
AA Change: I454R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139428
|
| SMART Domains |
Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SCOP:d1utea_
|
59 |
274 |
9e-9 |
SMART |
|
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171260
|
| SMART Domains |
Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
52 |
309 |
4.7e-74 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
| Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
| Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
| C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
| Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
| Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
| Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
| Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
| Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
| Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
| Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
| Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
| Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
| Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
| Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
| Other mutations in Tmem62 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Tmem62
|
APN |
2 |
120,809,700 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02125:Tmem62
|
APN |
2 |
120,826,993 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02430:Tmem62
|
APN |
2 |
120,817,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Tmem62
|
UTSW |
2 |
120,829,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0535:Tmem62
|
UTSW |
2 |
120,833,077 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1597:Tmem62
|
UTSW |
2 |
120,814,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1656:Tmem62
|
UTSW |
2 |
120,837,483 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1682:Tmem62
|
UTSW |
2 |
120,837,538 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1702:Tmem62
|
UTSW |
2 |
120,809,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1755:Tmem62
|
UTSW |
2 |
120,814,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1886:Tmem62
|
UTSW |
2 |
120,817,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1943:Tmem62
|
UTSW |
2 |
120,817,107 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2151:Tmem62
|
UTSW |
2 |
120,817,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Tmem62
|
UTSW |
2 |
120,837,586 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3034:Tmem62
|
UTSW |
2 |
120,809,605 (GRCm39) |
splice site |
probably benign |
|
|
R3782:Tmem62
|
UTSW |
2 |
120,807,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4326:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Tmem62
|
UTSW |
2 |
120,826,845 (GRCm39) |
intron |
probably benign |
|
|
R5168:Tmem62
|
UTSW |
2 |
120,824,088 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5625:Tmem62
|
UTSW |
2 |
120,820,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Tmem62
|
UTSW |
2 |
120,807,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6386:Tmem62
|
UTSW |
2 |
120,829,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7038:Tmem62
|
UTSW |
2 |
120,824,058 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7182:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7569:Tmem62
|
UTSW |
2 |
120,837,411 (GRCm39) |
missense |
probably benign |
|
|
R7607:Tmem62
|
UTSW |
2 |
120,826,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7849:Tmem62
|
UTSW |
2 |
120,814,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8353:Tmem62
|
UTSW |
2 |
120,814,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:Tmem62
|
UTSW |
2 |
120,837,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8944:Tmem62
|
UTSW |
2 |
120,817,316 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9218:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9448:Tmem62
|
UTSW |
2 |
120,808,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9597:Tmem62
|
UTSW |
2 |
120,829,567 (GRCm39) |
missense |
probably benign |
0.23 |
|
X0052:Tmem62
|
UTSW |
2 |
120,824,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation