Incidental Mutation 'R6566:Tmc5'
ID |
522677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc5
|
Ensembl Gene |
ENSMUSG00000030650 |
Gene Name |
transmembrane channel-like gene family 5 |
Synonyms |
4932443L08Rik |
MMRRC Submission |
044690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R6566 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118196520-118274308 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118247067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 524
(S524P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057320]
[ENSMUST00000098088]
[ENSMUST00000121715]
[ENSMUST00000121744]
|
AlphaFold |
Q32NZ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057320
AA Change: S314P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049784 Gene: ENSMUSG00000030650 AA Change: S314P
Domain | Start | End | E-Value | Type |
transmembrane domain
|
203 |
225 |
N/A |
INTRINSIC |
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
transmembrane domain
|
275 |
297 |
N/A |
INTRINSIC |
transmembrane domain
|
371 |
393 |
N/A |
INTRINSIC |
transmembrane domain
|
408 |
430 |
N/A |
INTRINSIC |
transmembrane domain
|
451 |
473 |
N/A |
INTRINSIC |
Pfam:TMC
|
476 |
581 |
8.1e-44 |
PFAM |
transmembrane domain
|
586 |
608 |
N/A |
INTRINSIC |
transmembrane domain
|
652 |
674 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098088
AA Change: S524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095694 Gene: ENSMUSG00000030650 AA Change: S524P
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
105 |
2.08e-10 |
PROSPERO |
internal_repeat_2
|
10 |
108 |
2.75e-10 |
PROSPERO |
internal_repeat_2
|
127 |
234 |
2.75e-10 |
PROSPERO |
internal_repeat_1
|
152 |
266 |
2.08e-10 |
PROSPERO |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
transmembrane domain
|
485 |
507 |
N/A |
INTRINSIC |
transmembrane domain
|
581 |
603 |
N/A |
INTRINSIC |
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
Pfam:TMC
|
686 |
791 |
1.2e-42 |
PFAM |
transmembrane domain
|
796 |
818 |
N/A |
INTRINSIC |
transmembrane domain
|
862 |
884 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121715
AA Change: S524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112434 Gene: ENSMUSG00000030650 AA Change: S524P
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
105 |
2.08e-10 |
PROSPERO |
internal_repeat_2
|
10 |
108 |
2.75e-10 |
PROSPERO |
internal_repeat_2
|
127 |
234 |
2.75e-10 |
PROSPERO |
internal_repeat_1
|
152 |
266 |
2.08e-10 |
PROSPERO |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
transmembrane domain
|
485 |
507 |
N/A |
INTRINSIC |
transmembrane domain
|
581 |
603 |
N/A |
INTRINSIC |
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
Pfam:TMC
|
686 |
791 |
1.1e-43 |
PFAM |
transmembrane domain
|
796 |
818 |
N/A |
INTRINSIC |
transmembrane domain
|
862 |
884 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121744
AA Change: S524P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114137 Gene: ENSMUSG00000030650 AA Change: S524P
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
105 |
2.08e-10 |
PROSPERO |
internal_repeat_2
|
10 |
108 |
2.75e-10 |
PROSPERO |
internal_repeat_2
|
127 |
234 |
2.75e-10 |
PROSPERO |
internal_repeat_1
|
152 |
266 |
2.08e-10 |
PROSPERO |
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
transmembrane domain
|
485 |
507 |
N/A |
INTRINSIC |
transmembrane domain
|
581 |
603 |
N/A |
INTRINSIC |
transmembrane domain
|
618 |
640 |
N/A |
INTRINSIC |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
Pfam:TMC
|
686 |
791 |
1.1e-43 |
PFAM |
transmembrane domain
|
796 |
818 |
N/A |
INTRINSIC |
transmembrane domain
|
862 |
884 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
Bcat1 |
A |
G |
6: 144,961,210 (GRCm39) |
M131T |
probably damaging |
Het |
Dcstamp |
T |
C |
15: 39,617,732 (GRCm39) |
F47S |
possibly damaging |
Het |
Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,912,966 (GRCm39) |
V614A |
probably benign |
Het |
Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,549,520 (GRCm39) |
R394G |
possibly damaging |
Het |
Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
Zfp944 |
T |
G |
17: 22,558,726 (GRCm39) |
K174Q |
possibly damaging |
Het |
|
Other mutations in Tmc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01484:Tmc5
|
APN |
7 |
118,256,010 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01601:Tmc5
|
APN |
7 |
118,223,047 (GRCm39) |
unclassified |
probably benign |
|
IGL01633:Tmc5
|
APN |
7 |
118,222,809 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01845:Tmc5
|
APN |
7 |
118,251,733 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02148:Tmc5
|
APN |
7 |
118,244,547 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02638:Tmc5
|
APN |
7 |
118,226,456 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02890:Tmc5
|
APN |
7 |
118,244,653 (GRCm39) |
splice site |
probably benign |
|
hipster
|
UTSW |
7 |
118,265,834 (GRCm39) |
critical splice donor site |
probably null |
|
F5426:Tmc5
|
UTSW |
7 |
118,222,546 (GRCm39) |
missense |
probably benign |
|
PIT4802001:Tmc5
|
UTSW |
7 |
118,271,449 (GRCm39) |
missense |
probably benign |
|
R0068:Tmc5
|
UTSW |
7 |
118,233,460 (GRCm39) |
missense |
probably benign |
0.44 |
R0470:Tmc5
|
UTSW |
7 |
118,239,154 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0520:Tmc5
|
UTSW |
7 |
118,265,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Tmc5
|
UTSW |
7 |
118,226,433 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1263:Tmc5
|
UTSW |
7 |
118,266,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R1269:Tmc5
|
UTSW |
7 |
118,265,816 (GRCm39) |
missense |
probably benign |
0.30 |
R1486:Tmc5
|
UTSW |
7 |
118,272,655 (GRCm39) |
missense |
probably benign |
0.02 |
R1702:Tmc5
|
UTSW |
7 |
118,271,462 (GRCm39) |
missense |
probably benign |
0.00 |
R2188:Tmc5
|
UTSW |
7 |
118,254,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R3508:Tmc5
|
UTSW |
7 |
118,244,618 (GRCm39) |
missense |
probably benign |
0.01 |
R3893:Tmc5
|
UTSW |
7 |
118,244,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R3927:Tmc5
|
UTSW |
7 |
118,251,878 (GRCm39) |
nonsense |
probably null |
|
R4171:Tmc5
|
UTSW |
7 |
118,248,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R4279:Tmc5
|
UTSW |
7 |
118,273,886 (GRCm39) |
makesense |
probably null |
|
R4554:Tmc5
|
UTSW |
7 |
118,269,956 (GRCm39) |
missense |
probably benign |
0.16 |
R4555:Tmc5
|
UTSW |
7 |
118,269,956 (GRCm39) |
missense |
probably benign |
0.16 |
R4557:Tmc5
|
UTSW |
7 |
118,269,956 (GRCm39) |
missense |
probably benign |
0.16 |
R4833:Tmc5
|
UTSW |
7 |
118,228,052 (GRCm39) |
missense |
probably benign |
0.11 |
R4845:Tmc5
|
UTSW |
7 |
118,241,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Tmc5
|
UTSW |
7 |
118,244,562 (GRCm39) |
missense |
probably benign |
0.32 |
R5087:Tmc5
|
UTSW |
7 |
118,244,609 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5214:Tmc5
|
UTSW |
7 |
118,247,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R5723:Tmc5
|
UTSW |
7 |
118,271,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Tmc5
|
UTSW |
7 |
118,265,834 (GRCm39) |
critical splice donor site |
probably null |
|
R5882:Tmc5
|
UTSW |
7 |
118,254,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R5946:Tmc5
|
UTSW |
7 |
118,269,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R6244:Tmc5
|
UTSW |
7 |
118,233,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6360:Tmc5
|
UTSW |
7 |
118,233,189 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R6375:Tmc5
|
UTSW |
7 |
118,256,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R6458:Tmc5
|
UTSW |
7 |
118,244,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R6681:Tmc5
|
UTSW |
7 |
118,268,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7202:Tmc5
|
UTSW |
7 |
118,239,179 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7227:Tmc5
|
UTSW |
7 |
118,269,889 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7410:Tmc5
|
UTSW |
7 |
118,222,820 (GRCm39) |
nonsense |
probably null |
|
R7562:Tmc5
|
UTSW |
7 |
118,222,549 (GRCm39) |
missense |
probably benign |
0.10 |
R7808:Tmc5
|
UTSW |
7 |
118,268,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R8560:Tmc5
|
UTSW |
7 |
118,268,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Tmc5
|
UTSW |
7 |
118,269,925 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8778:Tmc5
|
UTSW |
7 |
118,222,816 (GRCm39) |
missense |
unknown |
|
R8832:Tmc5
|
UTSW |
7 |
118,222,332 (GRCm39) |
missense |
probably benign |
0.06 |
R9026:Tmc5
|
UTSW |
7 |
118,241,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9064:Tmc5
|
UTSW |
7 |
118,233,270 (GRCm39) |
missense |
probably benign |
0.01 |
R9159:Tmc5
|
UTSW |
7 |
118,233,264 (GRCm39) |
missense |
probably benign |
|
R9258:Tmc5
|
UTSW |
7 |
118,222,501 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Tmc5
|
UTSW |
7 |
118,222,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGAGAGAAGAATTTGGACTGCC -3'
(R):5'- CATGATGTCCCCATGCACTG -3'
Sequencing Primer
(F):5'- GAATTTGGACTGCCCATATTACC -3'
(R):5'- GCTGGGATTAAGATGTACACACCTC -3'
|
Posted On |
2018-06-06 |