Incidental Mutation 'R9289:Tmem63b'
| ID |
704174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45975697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 549
(F549S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000145873]
|
| AlphaFold |
Q3TWI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113523
AA Change: F549S
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: F549S
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,982,333 (GRCm39) |
T306I |
probably benign |
Het |
| Aurkb |
T |
C |
11: 68,941,175 (GRCm39) |
I250T |
probably damaging |
Het |
| C1qtnf1 |
A |
G |
11: 118,334,672 (GRCm39) |
T51A |
probably benign |
Het |
| C1rb |
G |
T |
6: 124,552,272 (GRCm39) |
R330L |
possibly damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
T |
10: 41,607,082 (GRCm39) |
D160E |
probably damaging |
Het |
| Ces1f |
C |
T |
8: 93,992,491 (GRCm39) |
S320N |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,936 (GRCm39) |
S3039P |
possibly damaging |
Het |
| Chia1 |
A |
T |
3: 106,022,502 (GRCm39) |
|
probably benign |
Het |
| Chka |
T |
G |
19: 3,935,953 (GRCm39) |
F220V |
possibly damaging |
Het |
| Cmtm2b |
A |
G |
8: 105,048,980 (GRCm39) |
|
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,098,079 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
T |
C |
9: 109,920,603 (GRCm39) |
T304A |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,189 (GRCm39) |
D164E |
probably benign |
Het |
| Dip2b |
A |
T |
15: 100,071,152 (GRCm39) |
K661I |
probably damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,568,681 (GRCm39) |
L1581H |
probably damaging |
Het |
| Fam219a |
C |
A |
4: 41,521,942 (GRCm39) |
G46V |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,490,766 (GRCm39) |
V1028M |
probably damaging |
Het |
| Glb1 |
C |
A |
9: 114,249,558 (GRCm39) |
A129E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,447,608 (GRCm39) |
V1767A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,199 (GRCm39) |
S591T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,885,187 (GRCm39) |
K1023R |
probably benign |
Het |
| Mfng |
C |
A |
15: 78,643,457 (GRCm39) |
S250I |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,796,800 (GRCm39) |
T723A |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,785,534 (GRCm39) |
H299L |
probably benign |
Het |
| Naa40 |
T |
C |
19: 7,211,485 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ncdn |
A |
C |
4: 126,643,903 (GRCm39) |
F306L |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,377,254 (GRCm39) |
C246R |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,168,355 (GRCm39) |
Y945* |
probably null |
Het |
| Or2av9 |
T |
A |
11: 58,380,745 (GRCm39) |
I279L |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2y14 |
C |
T |
11: 49,404,635 (GRCm39) |
P57S |
probably damaging |
Het |
| Or52n5 |
T |
C |
7: 104,587,816 (GRCm39) |
W28R |
probably damaging |
Het |
| Pcnx1 |
C |
A |
12: 82,028,853 (GRCm39) |
D1044E |
|
Het |
| Pgm2l1 |
T |
A |
7: 99,919,629 (GRCm39) |
I575K |
probably damaging |
Het |
| Plat |
T |
C |
8: 23,272,100 (GRCm39) |
I553T |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,130 (GRCm39) |
V2513A |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,593 (GRCm39) |
V983E |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,241,547 (GRCm39) |
S190P |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,716,982 (GRCm39) |
E163G |
probably benign |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,060 (GRCm39) |
H44R |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,459,792 (GRCm39) |
C513* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,998,257 (GRCm39) |
K379E |
probably damaging |
Het |
| Slc52a2 |
G |
T |
15: 76,424,475 (GRCm39) |
V238L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,639 (GRCm39) |
H3171R |
possibly damaging |
Het |
| Tada3 |
A |
G |
6: 113,347,264 (GRCm39) |
V342A |
possibly damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,262 (GRCm39) |
V264A |
probably damaging |
Het |
| Tmco5 |
G |
A |
2: 116,710,745 (GRCm39) |
A22T |
probably benign |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,285,086 (GRCm39) |
F54S |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,736,281 (GRCm39) |
K5* |
probably null |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,381,367 (GRCm39) |
I139T |
probably benign |
Het |
| Zfp839 |
T |
A |
12: 110,834,878 (GRCm39) |
V711D |
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 |
|
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 |
|
|
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'- GGGCACTCCTGATCAAGAAC -3'
(R):5'- AGGACGACCATGCACAAGTG -3'
Sequencing Primer
(F):5'- GATCAAGAACCCCAGCCCATTTC -3'
(R):5'- ATGGTGCTGCTTCTGCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation