Incidental Mutation 'R5998:Tmem63b'
| ID |
480692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| MMRRC Submission |
044177-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5998 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45980926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 256
(V256A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000127065]
[ENSMUST00000133741]
[ENSMUST00000145873]
[ENSMUST00000156254]
|
| AlphaFold |
Q3TWI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113523
AA Change: V269A
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: V269A
| 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: ENSMUST00000127065
|
| SMART Domains |
Protein: ENSMUSP00000118826
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 |
201 |
1.4e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129177
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133741
|
| SMART Domains |
Protein: ENSMUSP00000115408
Gene: ENSMUSG00000036026
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
Pfam:RSN1_TM
|
88 |
213 |
2e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145873
AA Change: V256A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121681
Gene: ENSMUSG00000036026
AA Change: V256A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
| Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
| Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
| Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
| Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
| Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
| Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
| Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,305,622 (GRCm39) |
F28L |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
| Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
| Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
| Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
| Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
| Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
| Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
| Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
| Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
| Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
| Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACTAAGCTCCAGGCCTTG -3'
(R):5'- ACAGCGTAAGGACTTCAGAGTTC -3'
Sequencing Primer
(F):5'- GGTCTAGTTATAGTCAAAATGCCCCC -3'
(R):5'- AAGGACTTCAGAGTTCCGTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation