Incidental Mutation 'R6656:Tmem63b'
| ID |
526639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| MMRRC Submission |
044777-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45978634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 325
(R325L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000145873]
[ENSMUST00000156254]
|
| AlphaFold |
Q3TWI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113523
AA Change: R325L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: R325L
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000151439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156224
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156254
|
| SMART Domains |
Protein: ENSMUSP00000118838
Gene: ENSMUSG00000036026
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
|
Pfam:RSN1_TM
|
102 |
226 |
3.3e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0745 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
| B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
| D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
| Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
| Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
| Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
| Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
| Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTATGGACGCCAGAGGC -3'
(R):5'- TAGCCAGCCCCAGATGCTAAG -3'
Sequencing Primer
(F):5'- CAGAGGCAGTTGGAGGCTTG -3'
(R):5'- AAGGAAAATGTACCCGCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation