Incidental Mutation 'R4881:Tmem63c'
| ID |
375294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63c
|
| Ensembl Gene |
ENSMUSG00000034145 |
| Gene Name |
transmembrane protein 63c |
| Synonyms |
9330187M14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4881 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87133192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 736
(T736S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110187]
[ENSMUST00000131878]
[ENSMUST00000146292]
[ENSMUST00000154801]
|
| AlphaFold |
Q8CBX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110187
AA Change: T736S
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: T736S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
9.5e-21 |
PFAM |
|
Pfam:DUF4463
|
253 |
323 |
6.1e-16 |
PFAM |
|
Pfam:DUF221
|
341 |
680 |
8.9e-89 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131878
AA Change: T736S
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: T736S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
9.5e-21 |
PFAM |
|
Pfam:DUF4463
|
253 |
323 |
6.1e-16 |
PFAM |
|
Pfam:DUF221
|
341 |
680 |
8.9e-89 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146292
AA Change: T736S
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: T736S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
1.6e-20 |
PFAM |
|
Pfam:PHM7_cyt
|
253 |
323 |
6e-12 |
PFAM |
|
Pfam:RSN1_7TM
|
341 |
680 |
2.5e-88 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154801
|
| SMART Domains |
Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
179 |
1.6e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220808
|
| Meta Mutation Damage Score |
0.0723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,877,472 (GRCm39) |
L1040P |
possibly damaging |
Het |
| Acot11 |
C |
A |
4: 106,612,502 (GRCm39) |
|
probably null |
Het |
| Aldoart2 |
C |
A |
12: 55,612,899 (GRCm39) |
Q275K |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,501,288 (GRCm39) |
T42A |
probably damaging |
Het |
| Bora |
C |
T |
14: 99,299,003 (GRCm39) |
L187F |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,059 (GRCm39) |
S54P |
possibly damaging |
Het |
| Celsr3 |
T |
A |
9: 108,721,140 (GRCm39) |
L2661Q |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,946,772 (GRCm39) |
T1313A |
probably damaging |
Het |
| Dbndd2 |
C |
A |
2: 164,332,225 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,746,126 (GRCm39) |
D4G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,090,348 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,240,478 (GRCm39) |
C1532R |
probably damaging |
Het |
| Erbb3 |
A |
T |
10: 128,412,816 (GRCm39) |
H591Q |
probably benign |
Het |
| Exosc4 |
T |
C |
15: 76,213,770 (GRCm39) |
L198P |
probably damaging |
Het |
| F2r |
A |
T |
13: 95,754,837 (GRCm39) |
C16S |
possibly damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,981,125 (GRCm39) |
I234N |
possibly damaging |
Het |
| Ift27 |
A |
T |
15: 78,049,448 (GRCm39) |
V84D |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,263,256 (GRCm39) |
A389V |
probably benign |
Het |
| Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
| Klrc2 |
T |
A |
6: 129,637,471 (GRCm39) |
T17S |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,705,428 (GRCm39) |
S118T |
probably damaging |
Het |
| Mfsd6l |
C |
T |
11: 68,448,748 (GRCm39) |
A533V |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,402,549 (GRCm39) |
|
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,191,434 (GRCm39) |
M1103V |
probably benign |
Het |
| Niban2 |
C |
A |
2: 32,812,590 (GRCm39) |
Y446* |
probably null |
Het |
| Or2y1e |
T |
A |
11: 49,219,124 (GRCm39) |
D295E |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,612 (GRCm39) |
L183P |
probably damaging |
Het |
| Or6z3 |
A |
T |
7: 6,463,753 (GRCm39) |
M82L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,329,764 (GRCm39) |
D88E |
possibly damaging |
Het |
| Pou1f1 |
C |
T |
16: 65,328,728 (GRCm39) |
T149I |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Rcor1 |
A |
G |
12: 111,063,986 (GRCm39) |
D95G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,119,809 (GRCm39) |
L1748P |
probably damaging |
Het |
| Slco2a1 |
A |
G |
9: 102,963,031 (GRCm39) |
K629E |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 109,964,696 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
G |
16: 91,472,397 (GRCm39) |
K360E |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,865,629 (GRCm39) |
M1753K |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
| Tmpo |
G |
A |
10: 90,998,503 (GRCm39) |
P428L |
possibly damaging |
Het |
| Tmprss11a |
G |
T |
5: 86,570,432 (GRCm39) |
Q176K |
probably damaging |
Het |
| Trappc4 |
A |
G |
9: 44,315,322 (GRCm39) |
S219P |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,859 (GRCm39) |
P183T |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,598 (GRCm39) |
V432I |
probably benign |
Het |
| Vtcn1 |
G |
A |
3: 100,799,909 (GRCm39) |
G257R |
probably benign |
Het |
| Yipf1 |
T |
A |
4: 107,202,288 (GRCm39) |
M217K |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,236,647 (GRCm39) |
S374P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,577,828 (GRCm39) |
H1095R |
probably benign |
Het |
| Zfp661 |
A |
T |
2: 127,420,564 (GRCm39) |
H78Q |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,450,849 (GRCm39) |
T317A |
unknown |
Het |
| Zfyve9 |
T |
A |
4: 108,584,688 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tmem63c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Tmem63c
|
APN |
12 |
87,123,980 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00837:Tmem63c
|
APN |
12 |
87,123,971 (GRCm39) |
missense |
probably benign |
|
|
IGL01317:Tmem63c
|
APN |
12 |
87,118,770 (GRCm39) |
splice site |
probably benign |
|
|
IGL01521:Tmem63c
|
APN |
12 |
87,115,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01955:Tmem63c
|
APN |
12 |
87,123,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02007:Tmem63c
|
APN |
12 |
87,119,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02891:Tmem63c
|
APN |
12 |
87,118,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Tmem63c
|
APN |
12 |
87,112,323 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03273:Tmem63c
|
APN |
12 |
87,128,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Tmem63c
|
UTSW |
12 |
87,121,843 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Tmem63c
|
UTSW |
12 |
87,103,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Tmem63c
|
UTSW |
12 |
87,128,676 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4721:Tmem63c
|
UTSW |
12 |
87,103,954 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4888:Tmem63c
|
UTSW |
12 |
87,136,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Tmem63c
|
UTSW |
12 |
87,136,172 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5277:Tmem63c
|
UTSW |
12 |
87,104,531 (GRCm39) |
splice site |
probably null |
|
|
R5790:Tmem63c
|
UTSW |
12 |
87,104,410 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5855:Tmem63c
|
UTSW |
12 |
87,122,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Tmem63c
|
UTSW |
12 |
87,121,946 (GRCm39) |
missense |
probably benign |
|
|
R6000:Tmem63c
|
UTSW |
12 |
87,103,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Tmem63c
|
UTSW |
12 |
87,123,179 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6268:Tmem63c
|
UTSW |
12 |
87,128,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Tmem63c
|
UTSW |
12 |
87,122,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Tmem63c
|
UTSW |
12 |
87,124,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Tmem63c
|
UTSW |
12 |
87,115,932 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8057:Tmem63c
|
UTSW |
12 |
87,118,972 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Tmem63c
|
UTSW |
12 |
87,108,328 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8350:Tmem63c
|
UTSW |
12 |
87,119,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Tmem63c
|
UTSW |
12 |
87,119,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Tmem63c
|
UTSW |
12 |
87,103,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Tmem63c
|
UTSW |
12 |
87,128,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Tmem63c
|
UTSW |
12 |
87,108,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9617:Tmem63c
|
UTSW |
12 |
87,103,361 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9779:Tmem63c
|
UTSW |
12 |
87,104,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tmem63c
|
UTSW |
12 |
87,103,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Tmem63c
|
UTSW |
12 |
87,124,038 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGTTTAGAATGTGGCTTAG -3'
(R):5'- TCCTGCTGTATCAGAACAGGG -3'
Sequencing Primer
(F):5'- GGAAAAGTTGAGGGGTCATGGTG -3'
(R):5'- TGCTGTATCAGAACAGGGAACCC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation