Incidental Mutation 'R9064:Tmc5'
| ID |
689148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc5
|
| Ensembl Gene |
ENSMUSG00000030650 |
| Gene Name |
transmembrane channel-like gene family 5 |
| Synonyms |
4932443L08Rik |
| MMRRC Submission |
068889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9064 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118196520-118274308 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118233270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 28
(S28I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057320]
[ENSMUST00000098088]
[ENSMUST00000121715]
[ENSMUST00000121744]
|
| AlphaFold |
Q32NZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057320
AA Change: S28I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000049784
Gene: ENSMUSG00000030650
AA Change: S28I
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss1 |
T |
C |
2: 150,463,510 (GRCm39) |
E598G |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,570,965 (GRCm39) |
E504G |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,822,185 (GRCm39) |
S285P |
|
Het |
| Ankrd28 |
G |
A |
14: 31,454,005 (GRCm39) |
H410Y |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,094,855 (GRCm39) |
V62L |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,697,491 (GRCm39) |
I451T |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,059,608 (GRCm39) |
D245G |
|
Het |
| Calr3 |
T |
C |
8: 73,188,674 (GRCm39) |
K151R |
possibly damaging |
Het |
| Cenpq |
G |
A |
17: 41,243,731 (GRCm39) |
T39I |
probably benign |
Het |
| Cep126 |
T |
C |
9: 8,103,341 (GRCm39) |
D223G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,143,279 (GRCm39) |
I538K |
possibly damaging |
Het |
| Cyp3a41b |
C |
T |
5: 145,514,910 (GRCm39) |
R105Q |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,126,156 (GRCm39) |
R1327L |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,531,148 (GRCm39) |
|
probably null |
Het |
| Fam118a |
T |
C |
15: 84,930,039 (GRCm39) |
V89A |
probably damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,791,002 (GRCm39) |
I36K |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,934,640 (GRCm39) |
N170S |
probably benign |
Het |
| Frzb |
A |
G |
2: 80,277,052 (GRCm39) |
S45P |
probably benign |
Het |
| Gm4841 |
T |
C |
18: 60,403,961 (GRCm39) |
E44G |
probably benign |
Het |
| Hecw2 |
C |
A |
1: 53,866,045 (GRCm39) |
A1539S |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kcnh5 |
A |
T |
12: 75,177,727 (GRCm39) |
C126* |
probably null |
Het |
| Kdm5a |
TAGAAGAAG |
TAGAAG |
6: 120,403,869 (GRCm39) |
|
probably benign |
Het |
| Kremen2 |
A |
G |
17: 23,961,736 (GRCm39) |
L257P |
possibly damaging |
Het |
| Mcat |
A |
C |
15: 83,432,134 (GRCm39) |
F245V |
probably damaging |
Het |
| Mdm2 |
T |
C |
10: 117,538,235 (GRCm39) |
I54M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,754,397 (GRCm38) |
T1424A |
possibly damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,940 (GRCm39) |
T416A |
probably benign |
Het |
| Nol4 |
T |
A |
18: 22,903,850 (GRCm39) |
D156V |
|
Het |
| Nxpe4 |
T |
C |
9: 48,309,964 (GRCm39) |
V409A |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,899,935 (GRCm39) |
T966K |
|
Het |
| Or10j3b |
C |
T |
1: 173,044,060 (GRCm39) |
L281F |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or14c42-ps1 |
A |
G |
7: 86,211,371 (GRCm39) |
T144A |
unknown |
Het |
| Phip |
C |
T |
9: 82,753,540 (GRCm39) |
V1735I |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,426,038 (GRCm39) |
T3200S |
possibly damaging |
Het |
| Prdm4 |
T |
C |
10: 85,737,678 (GRCm39) |
N496S |
probably damaging |
Het |
| Proser1 |
C |
T |
3: 53,384,927 (GRCm39) |
L270F |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,069 (GRCm39) |
V107A |
probably damaging |
Het |
| Rassf10 |
A |
T |
7: 112,554,315 (GRCm39) |
E305D |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,202,446 (GRCm39) |
I123T |
probably damaging |
Het |
| Rpp25 |
G |
T |
9: 57,411,635 (GRCm39) |
R39L |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,115,326 (GRCm39) |
N895S |
possibly damaging |
Het |
| Sirpa |
A |
T |
2: 129,458,460 (GRCm39) |
S359C |
possibly damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,680,703 (GRCm39) |
C83S |
probably benign |
Het |
| Spink5 |
T |
G |
18: 44,100,193 (GRCm39) |
L70R |
probably damaging |
Het |
| Stil |
T |
G |
4: 114,898,932 (GRCm39) |
N1187K |
probably benign |
Het |
| Sucla2 |
A |
T |
14: 73,828,303 (GRCm39) |
E303D |
probably benign |
Het |
| Supt3 |
G |
A |
17: 45,305,295 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,288,979 (GRCm39) |
V444A |
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 |
|
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 |
|
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'- GAATGGGGCATCCTTTCTCTGAC -3'
(R):5'- ATTCATCCGTGACCAGGCAC -3'
Sequencing Primer
(F):5'- GGCATCCTTTCTCTGACGTCAC -3'
(R):5'- GCACTCTGAGCCATGATAGATCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation