Incidental Mutation 'R1263:Tmc5'
| ID |
151661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc5
|
| Ensembl Gene |
ENSMUSG00000030650 |
| Gene Name |
transmembrane channel-like gene family 5 |
| Synonyms |
4932443L08Rik |
| MMRRC Submission |
039330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R1263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118196520-118274308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118266093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 789
(R789Q)
|
| 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: R579Q
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: R579Q
| 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: R789Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
AA Change: R789Q
| 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: R789Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
AA Change: R789Q
| 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: R789Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
AA Change: R789Q
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
| Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
T |
A |
16: 29,290,771 (GRCm39) |
Y226F |
possibly damaging |
Het |
| Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
| Chi3l1 |
G |
A |
1: 134,116,980 (GRCm39) |
E315K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
| Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
| Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
| Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
| Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
| Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
| Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
| Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
| Sanbr |
A |
T |
11: 23,570,278 (GRCm39) |
Y207* |
probably null |
Het |
| Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
| Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
| Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,035,274 (GRCm39) |
H327R |
probably damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,778,468 (GRCm39) |
L413Q |
probably damaging |
Het |
| Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
probably 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 |
|
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 |
|
R6566:Tmc5
|
UTSW |
7 |
118,247,067 (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 |
|
| Posted On |
2014-01-29 |
Incidental Mutation