Incidental Mutation 'R9042:Tmem63b'
| ID |
687800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| MMRRC Submission |
068869-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45977517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 370
(T370A)
|
| 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: T370A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: T370A
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,152,134 (GRCm39) |
K208R |
probably benign |
Het |
| Amh |
T |
C |
10: 80,642,443 (GRCm39) |
M242T |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,488,510 (GRCm39) |
Y440C |
probably damaging |
Het |
| Atf7ip |
G |
T |
6: 136,538,263 (GRCm39) |
E499* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,735,065 (GRCm39) |
I967V |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,407,515 (GRCm39) |
T341A |
probably benign |
Het |
| Cyp26b1 |
T |
A |
6: 84,553,590 (GRCm39) |
Y263F |
probably benign |
Het |
| Ecm2 |
C |
A |
13: 49,682,439 (GRCm39) |
Y489* |
probably null |
Het |
| Gpr22 |
C |
A |
12: 31,759,853 (GRCm39) |
V90L |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,438 (GRCm39) |
V516M |
probably benign |
Het |
| Ipo5 |
C |
T |
14: 121,160,547 (GRCm39) |
S188L |
probably benign |
Het |
| Kcnh6 |
T |
A |
11: 105,908,464 (GRCm39) |
I360N |
possibly damaging |
Het |
| Lrp1b |
C |
A |
2: 41,392,029 (GRCm39) |
D512Y |
|
Het |
| Lrpprc |
C |
T |
17: 85,059,736 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
G |
10: 93,318,850 (GRCm39) |
K547R |
probably benign |
Het |
| Nacad |
G |
C |
11: 6,548,948 (GRCm39) |
P1340R |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,156,301 (GRCm39) |
K495E |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,245,968 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,477 (GRCm39) |
V77A |
probably benign |
Het |
| Or1f19 |
A |
T |
16: 3,411,132 (GRCm39) |
S291C |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,139 (GRCm39) |
Y60C |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,456 (GRCm39) |
V73A |
probably damaging |
Het |
| Pafah1b1 |
G |
A |
11: 74,574,493 (GRCm39) |
T231I |
probably benign |
Het |
| Parp11 |
C |
A |
6: 127,448,615 (GRCm39) |
Y77* |
probably null |
Het |
| Phc3 |
T |
A |
3: 30,983,916 (GRCm39) |
T712S |
unknown |
Het |
| Pkm |
T |
A |
9: 59,579,220 (GRCm39) |
I335N |
probably damaging |
Het |
| Pmpca |
A |
G |
2: 26,283,581 (GRCm39) |
T417A |
probably benign |
Het |
| Pot1b |
C |
T |
17: 56,006,991 (GRCm39) |
|
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,507,764 (GRCm39) |
|
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,047 (GRCm39) |
N369K |
probably benign |
Het |
| Pum3 |
T |
A |
19: 27,399,791 (GRCm39) |
Y214F |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,036 (GRCm39) |
T637M |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,321,292 (GRCm39) |
Y368F |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,362 (GRCm39) |
D45G |
probably benign |
Het |
| Serpinb3c |
T |
A |
1: 107,199,731 (GRCm39) |
L263F |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,553 (GRCm39) |
V444I |
probably damaging |
Het |
| Slc40a1 |
C |
T |
1: 45,948,621 (GRCm39) |
G553D |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,037 (GRCm39) |
Q665R |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,123,185 (GRCm39) |
I3275T |
probably benign |
Het |
| Taf7 |
C |
A |
18: 37,776,223 (GRCm39) |
D115Y |
probably damaging |
Het |
| Tanc1 |
G |
C |
2: 59,673,766 (GRCm39) |
A1624P |
probably benign |
Het |
| Tmed4 |
T |
C |
11: 6,224,405 (GRCm39) |
D85G |
probably benign |
Het |
| Tmed6 |
A |
G |
8: 107,790,385 (GRCm39) |
V138A |
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,720,310 (GRCm39) |
T91A |
probably benign |
Het |
| Ube4b |
C |
G |
4: 149,444,833 (GRCm39) |
A476P |
probably benign |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,435 (GRCm39) |
C795R |
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 |
|
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'- GCATTTGCACACGTTGAAGTC -3'
(R):5'- GACAGAGTGACTCATACGCAG -3'
Sequencing Primer
(F):5'- GCACACGTTGAAGTCCTTTAG -3'
(R):5'- GTGACTCATACGCAGAAAAAGCTTCG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation