Incidental Mutation 'IGL02890:Tmc5'
| ID |
363168 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc5
|
| Ensembl Gene |
ENSMUSG00000030650 |
| Gene Name |
transmembrane channel-like gene family 5 |
| Synonyms |
4932443L08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL02890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
118196520-118274308 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 118244653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057320]
[ENSMUST00000098088]
[ENSMUST00000121715]
[ENSMUST00000121744]
|
| AlphaFold |
Q32NZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057320
|
| SMART Domains |
Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
| 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 benign
Transcript: ENSMUST00000098088
|
| SMART Domains |
Protein: ENSMUSP00000095694
Gene: ENSMUSG00000030650
| 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 benign
Transcript: ENSMUST00000121715
|
| SMART Domains |
Protein: ENSMUSP00000112434
Gene: ENSMUSG00000030650
| 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 benign
Transcript: ENSMUST00000121744
|
| SMART Domains |
Protein: ENSMUSP00000114137
Gene: ENSMUSG00000030650
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
A |
T |
8: 41,278,190 (GRCm39) |
I194L |
probably benign |
Het |
| Akirin1 |
A |
G |
4: 123,631,855 (GRCm39) |
V171A |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,951,340 (GRCm39) |
D91E |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 62,356,815 (GRCm39) |
D751G |
probably damaging |
Het |
| D6Wsu163e |
G |
A |
6: 126,951,450 (GRCm39) |
G500D |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,405,698 (GRCm39) |
D2395E |
probably damaging |
Het |
| Entrep3 |
A |
T |
3: 89,094,089 (GRCm39) |
T223S |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,637,531 (GRCm39) |
|
probably null |
Het |
| Galnt14 |
A |
C |
17: 73,816,519 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
C |
11: 76,102,090 (GRCm39) |
S890R |
probably damaging |
Het |
| Glrp1 |
T |
A |
1: 88,437,510 (GRCm39) |
|
probably null |
Het |
| Grik1 |
A |
G |
16: 87,693,690 (GRCm39) |
|
probably benign |
Het |
| H2bc14 |
G |
T |
13: 21,906,356 (GRCm39) |
R30L |
probably benign |
Het |
| Hspa12a |
C |
T |
19: 58,809,431 (GRCm39) |
|
probably null |
Het |
| Hykk |
C |
T |
9: 54,827,995 (GRCm39) |
P78L |
probably benign |
Het |
| Kctd13 |
G |
A |
7: 126,529,903 (GRCm39) |
G115R |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,390,080 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,206,185 (GRCm39) |
|
probably null |
Het |
| Mat2a |
A |
G |
6: 72,413,229 (GRCm39) |
L167P |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,173,456 (GRCm39) |
E532G |
probably damaging |
Het |
| Nrbp2 |
G |
T |
15: 75,961,306 (GRCm39) |
L272M |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,911,116 (GRCm39) |
D790G |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,368 (GRCm39) |
T18S |
probably benign |
Het |
| Or5k16 |
T |
C |
16: 58,736,737 (GRCm39) |
D89G |
probably benign |
Het |
| Or8g26 |
T |
C |
9: 39,095,564 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,347,052 (GRCm39) |
H949L |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,269,956 (GRCm39) |
Y547C |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,431,235 (GRCm39) |
V2392D |
probably damaging |
Het |
| Ppp1r3g |
A |
T |
13: 36,153,314 (GRCm39) |
T245S |
probably damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,567 (GRCm39) |
N439S |
possibly damaging |
Het |
| Radil |
A |
G |
5: 142,529,463 (GRCm39) |
Y78H |
probably damaging |
Het |
| Ric8b |
A |
T |
10: 84,837,731 (GRCm39) |
M513L |
possibly damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,117,260 (GRCm39) |
S740P |
probably damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,454,478 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
G |
A |
7: 117,784,724 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,748,853 (GRCm39) |
M1I |
probably null |
Het |
| Tpp2 |
C |
T |
1: 44,038,850 (GRCm39) |
A1132V |
probably damaging |
Het |
| Ttll4 |
A |
T |
1: 74,726,498 (GRCm39) |
K699* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation