Incidental Mutation 'IGL02893:Tmem63b'
ID |
363304 |
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 # |
IGL02893
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 45972826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 656
(H656P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000120717]
[ENSMUST00000151350]
|
AlphaFold |
Q3TWI9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113523
AA Change: H656P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109151 Gene: ENSMUSG00000036026 AA Change: H656P
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: 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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
Bbs1 |
T |
A |
19: 4,947,604 (GRCm39) |
K317* |
probably null |
Het |
Cand2 |
T |
C |
6: 115,768,921 (GRCm39) |
L577P |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
Lca5l |
T |
C |
16: 95,980,113 (GRCm39) |
T6A |
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
Rnf31 |
T |
A |
14: 55,836,566 (GRCm39) |
F800Y |
probably damaging |
Het |
Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
Spata31d1d |
T |
A |
13: 59,873,793 (GRCm39) |
K1247N |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
probably benign |
Het |
|
Other mutations in Tmem63b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01681:Tmem63b
|
APN |
17 |
45,974,497 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-12-18 |