Incidental Mutation 'R0865:Tmem63b'
| ID |
82327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63b
|
| Ensembl Gene |
ENSMUSG00000036026 |
| Gene Name |
transmembrane protein 63b |
| Synonyms |
|
| MMRRC Submission |
039039-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
45971102-45997212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45972445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 721
(I721V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113523]
[ENSMUST00000120717]
[ENSMUST00000151350]
|
| AlphaFold |
Q3TWI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113523
AA Change: I721V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109151
Gene: ENSMUSG00000036026
AA Change: I721V
| 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
|
| Meta Mutation Damage Score |
0.1171 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
| Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
| Gga3 |
A |
T |
11: 115,483,285 (GRCm39) |
N91K |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
A |
G |
8: 129,436,732 (GRCm39) |
|
probably null |
Het |
| Kank4 |
A |
T |
4: 98,662,900 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
| Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
| Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
| Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
| Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
| Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
| Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
| Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
A |
G |
4: 156,128,135 (GRCm39) |
L391P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
| Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,528 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,741,415 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGACCTGCCAGCAATGTAGTG -3'
(R):5'- TGGTAGAGAATGCCAAGGGTCTCAG -3'
Sequencing Primer
(F):5'- ATTCACTGCCGTGAGATCAG -3'
(R):5'- CCAAGGGTCTCAGTGAGGTTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation