Incidental Mutation 'IGL01681:Tmem63b'
| ID |
103799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01681
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45974497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 591
(L591P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000120717]
[ENSMUST00000145873]
[ENSMUST00000151350]
|
| AlphaFold |
Q3TWI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113523
AA Change: L591P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: L591P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
Pfam:RSN1_TM
|
101 |
226 |
2.5e-23 |
PFAM |
|
Pfam:PHM7_cyt
|
274 |
344 |
9.1e-10 |
PFAM |
|
Pfam:RSN1_7TM
|
362 |
706 |
5.3e-96 |
PFAM |
|
transmembrane domain
|
711 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120717
|
| SMART Domains |
Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
2.75e-157 |
SMART |
|
calpain_III
|
366 |
523 |
2.57e-84 |
SMART |
|
EFh
|
590 |
618 |
3.91e-4 |
SMART |
|
EFh
|
620 |
648 |
6.88e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145873
|
| SMART Domains |
Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
Pfam:RSN1_TM
|
87 |
213 |
1.1e-24 |
PFAM |
|
Blast:RRM
|
228 |
308 |
3e-23 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151350
|
| SMART Domains |
Protein: ENSMUSP00000119679
Gene: ENSMUSG00000058626
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C2
|
94 |
153 |
1.5e-14 |
PFAM |
|
low complexity region
|
163 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156224
|
| 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 |
|---|
| Adnp2 |
T |
A |
18: 80,171,103 (GRCm39) |
E1102V |
probably damaging |
Het |
| Appl2 |
T |
A |
10: 83,450,165 (GRCm39) |
I236F |
possibly damaging |
Het |
| Asb15 |
C |
A |
6: 24,567,137 (GRCm39) |
T486K |
probably damaging |
Het |
| Bsdc1 |
T |
C |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
| Cts8 |
G |
T |
13: 61,401,433 (GRCm39) |
Q61K |
probably benign |
Het |
| Cyp2d34 |
C |
T |
15: 82,501,332 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,443,315 (GRCm39) |
T575A |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,142,196 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,415,302 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gtf2h3 |
T |
A |
5: 124,732,854 (GRCm39) |
L216Q |
probably damaging |
Het |
| Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,710,133 (GRCm39) |
S207P |
probably benign |
Het |
| Kng2 |
T |
A |
16: 22,815,767 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,141,041 (GRCm39) |
E653K |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,613,286 (GRCm39) |
V37A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,091,498 (GRCm39) |
D5085G |
probably damaging |
Het |
| Nexn |
T |
C |
3: 151,949,507 (GRCm39) |
M321V |
possibly damaging |
Het |
| Nsmce3 |
A |
G |
7: 64,522,221 (GRCm39) |
I149T |
probably benign |
Het |
| Oxct1 |
T |
G |
15: 4,131,326 (GRCm39) |
S405A |
possibly damaging |
Het |
| Pdpr |
T |
A |
8: 111,859,568 (GRCm39) |
N703K |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,523,143 (GRCm39) |
D83E |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,228,866 (GRCm39) |
A104T |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,639,185 (GRCm39) |
I393V |
probably damaging |
Het |
| Thoc6 |
A |
T |
17: 23,888,857 (GRCm39) |
L184M |
possibly damaging |
Het |
| Tjp2 |
C |
T |
19: 24,112,213 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,763,512 (GRCm39) |
|
probably null |
Het |
| Trmt5 |
G |
T |
12: 73,329,377 (GRCm39) |
|
probably benign |
Het |
| Ubap1l |
T |
A |
9: 65,281,201 (GRCm39) |
M293K |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,935 (GRCm39) |
E211G |
probably damaging |
Het |
| Zbbx |
A |
C |
3: 74,959,785 (GRCm39) |
Y595D |
probably damaging |
Het |
| Zc3h10 |
G |
A |
10: 128,381,109 (GRCm39) |
Q83* |
probably null |
Het |
| Zcchc3 |
T |
C |
2: 152,255,925 (GRCm39) |
N258S |
probably damaging |
Het |
|
| Other mutations in Tmem63b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02486:Tmem63b
|
APN |
17 |
45,984,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02519:Tmem63b
|
APN |
17 |
45,976,134 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02893:Tmem63b
|
APN |
17 |
45,972,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Tmem63b
|
APN |
17 |
45,975,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0211:Tmem63b
|
UTSW |
17 |
45,972,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0211:Tmem63b
|
UTSW |
17 |
45,972,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Tmem63b
|
UTSW |
17 |
45,986,299 (GRCm39) |
splice site |
probably benign |
|
|
R0441:Tmem63b
|
UTSW |
17 |
45,977,241 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0729:Tmem63b
|
UTSW |
17 |
45,985,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0749:Tmem63b
|
UTSW |
17 |
45,977,041 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0834:Tmem63b
|
UTSW |
17 |
45,971,870 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0835:Tmem63b
|
UTSW |
17 |
45,971,870 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0865:Tmem63b
|
UTSW |
17 |
45,972,445 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1144:Tmem63b
|
UTSW |
17 |
45,977,353 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1448:Tmem63b
|
UTSW |
17 |
45,989,904 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1468:Tmem63b
|
UTSW |
17 |
45,989,904 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1468:Tmem63b
|
UTSW |
17 |
45,989,904 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1538:Tmem63b
|
UTSW |
17 |
45,989,904 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1853:Tmem63b
|
UTSW |
17 |
45,972,223 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1935:Tmem63b
|
UTSW |
17 |
45,989,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2078:Tmem63b
|
UTSW |
17 |
45,974,462 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2518:Tmem63b
|
UTSW |
17 |
45,977,080 (GRCm39) |
missense |
probably benign |
|
|
R3911:Tmem63b
|
UTSW |
17 |
45,988,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Tmem63b
|
UTSW |
17 |
45,971,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Tmem63b
|
UTSW |
17 |
45,972,403 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5364:Tmem63b
|
UTSW |
17 |
45,975,653 (GRCm39) |
unclassified |
probably benign |
|
|
R5396:Tmem63b
|
UTSW |
17 |
45,980,888 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5548:Tmem63b
|
UTSW |
17 |
45,975,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5582:Tmem63b
|
UTSW |
17 |
45,978,689 (GRCm39) |
missense |
probably benign |
|
|
R5998:Tmem63b
|
UTSW |
17 |
45,980,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6198:Tmem63b
|
UTSW |
17 |
45,972,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6656:Tmem63b
|
UTSW |
17 |
45,978,634 (GRCm39) |
missense |
probably benign |
|
|
R6808:Tmem63b
|
UTSW |
17 |
45,971,734 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6967:Tmem63b
|
UTSW |
17 |
45,977,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7089:Tmem63b
|
UTSW |
17 |
45,978,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7181:Tmem63b
|
UTSW |
17 |
45,984,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Tmem63b
|
UTSW |
17 |
45,972,748 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7267:Tmem63b
|
UTSW |
17 |
45,977,048 (GRCm39) |
missense |
probably benign |
|
|
R7323:Tmem63b
|
UTSW |
17 |
45,971,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7346:Tmem63b
|
UTSW |
17 |
45,977,517 (GRCm39) |
missense |
probably benign |
|
|
R8281:Tmem63b
|
UTSW |
17 |
45,971,722 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8927:Tmem63b
|
UTSW |
17 |
45,975,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Tmem63b
|
UTSW |
17 |
45,975,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Tmem63b
|
UTSW |
17 |
45,977,517 (GRCm39) |
missense |
probably benign |
|
|
R9289:Tmem63b
|
UTSW |
17 |
45,975,697 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9539:Tmem63b
|
UTSW |
17 |
45,984,105 (GRCm39) |
nonsense |
probably null |
|
|
R9794:Tmem63b
|
UTSW |
17 |
45,977,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-01-21 |
Incidental Mutation