Incidental Mutation 'R6360:Tmc5'
ID |
513071 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc5
|
Ensembl Gene |
ENSMUSG00000030650 |
Gene Name |
transmembrane channel-like gene family 5 |
Synonyms |
4932443L08Rik |
MMRRC Submission |
044510-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R6360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118196520-118274308 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 118233189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057320]
[ENSMUST00000098088]
[ENSMUST00000121715]
[ENSMUST00000121744]
|
AlphaFold |
Q32NZ6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000057320
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049784 Gene: ENSMUSG00000030650 AA Change: M1K
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 |
|
Meta Mutation Damage Score |
0.9444 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
G |
A |
8: 77,985,831 (GRCm39) |
Q657* |
probably null |
Het |
Car15 |
T |
C |
16: 17,655,930 (GRCm39) |
T560A |
probably benign |
Het |
Cass4 |
C |
T |
2: 172,274,531 (GRCm39) |
H769Y |
probably damaging |
Het |
Cdh6 |
A |
G |
15: 13,041,546 (GRCm39) |
I506T |
possibly damaging |
Het |
Clstn3 |
G |
T |
6: 124,415,388 (GRCm39) |
R659S |
possibly damaging |
Het |
Cntnap5b |
C |
T |
1: 100,359,461 (GRCm39) |
R695* |
probably null |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Dab2ip |
A |
G |
2: 35,600,278 (GRCm39) |
H355R |
probably benign |
Het |
Dennd2a |
C |
T |
6: 39,470,076 (GRCm39) |
A539T |
probably benign |
Het |
Dnajc18 |
T |
C |
18: 35,819,762 (GRCm39) |
E173G |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,857,899 (GRCm39) |
I1472V |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,574,931 (GRCm39) |
F714I |
probably damaging |
Het |
Fam107a |
T |
G |
14: 8,299,619 (GRCm38) |
H73P |
probably damaging |
Het |
Flg |
A |
G |
3: 93,197,908 (GRCm39) |
|
probably benign |
Het |
Fyn |
C |
A |
10: 39,402,879 (GRCm39) |
T217K |
possibly damaging |
Het |
Gbp9 |
T |
C |
5: 105,231,596 (GRCm39) |
D330G |
probably benign |
Het |
Gin1 |
T |
C |
1: 97,720,264 (GRCm39) |
S509P |
possibly damaging |
Het |
Gm17067 |
A |
C |
7: 42,357,906 (GRCm39) |
S199A |
probably benign |
Het |
Grk4 |
A |
T |
5: 34,831,881 (GRCm39) |
K50M |
probably damaging |
Het |
Inpp4b |
A |
G |
8: 82,629,481 (GRCm39) |
H272R |
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,626,336 (GRCm39) |
L48Q |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,191 (GRCm39) |
I515T |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,351,208 (GRCm39) |
S190R |
possibly damaging |
Het |
Kpnb1 |
T |
C |
11: 97,064,096 (GRCm39) |
N336S |
probably benign |
Het |
Lbr |
G |
T |
1: 181,659,720 (GRCm39) |
D158E |
probably benign |
Het |
Mphosph10 |
T |
C |
7: 64,039,703 (GRCm39) |
Q89R |
probably benign |
Het |
Nectin3 |
T |
A |
16: 46,231,472 (GRCm39) |
T21S |
probably benign |
Het |
Numb |
C |
A |
12: 83,844,036 (GRCm39) |
R383L |
probably damaging |
Het |
Or2p2 |
A |
T |
13: 21,256,753 (GRCm39) |
N239K |
probably damaging |
Het |
Or9a7 |
G |
T |
6: 40,521,647 (GRCm39) |
Q89K |
possibly damaging |
Het |
Pcdhb11 |
A |
T |
18: 37,555,212 (GRCm39) |
I181F |
probably benign |
Het |
Pcgf2 |
T |
A |
11: 97,583,235 (GRCm39) |
|
probably null |
Het |
Pdzd8 |
T |
C |
19: 59,289,415 (GRCm39) |
T662A |
probably benign |
Het |
Pex13 |
A |
C |
11: 23,605,690 (GRCm39) |
V180G |
probably benign |
Het |
Pira1 |
A |
T |
7: 3,739,503 (GRCm39) |
L455Q |
probably damaging |
Het |
Pkp4 |
T |
A |
2: 59,045,091 (GRCm39) |
V22D |
probably benign |
Het |
Prkn |
T |
C |
17: 12,222,939 (GRCm39) |
F363S |
probably damaging |
Het |
Prpf4b |
A |
C |
13: 35,085,416 (GRCm39) |
D954A |
probably damaging |
Het |
Rfx8 |
T |
C |
1: 39,720,125 (GRCm39) |
I317V |
probably benign |
Het |
Rnaseh2b |
T |
C |
14: 62,598,868 (GRCm39) |
S198P |
probably damaging |
Het |
Rock1 |
A |
T |
18: 10,116,778 (GRCm39) |
C453S |
possibly damaging |
Het |
Saxo4 |
T |
C |
19: 10,456,845 (GRCm39) |
N167D |
probably damaging |
Het |
Scarf1 |
G |
T |
11: 75,406,495 (GRCm39) |
G260W |
probably damaging |
Het |
Scyl1 |
T |
C |
19: 5,810,599 (GRCm39) |
E538G |
probably damaging |
Het |
Sec14l5 |
A |
T |
16: 4,990,859 (GRCm39) |
I267F |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,021,088 (GRCm39) |
V256D |
probably benign |
Het |
Sf3b4 |
G |
A |
3: 96,084,044 (GRCm39) |
|
probably benign |
Het |
Ssh1 |
T |
C |
5: 114,099,408 (GRCm39) |
|
probably null |
Het |
Tas2r143 |
A |
C |
6: 42,377,769 (GRCm39) |
M200L |
probably benign |
Het |
Tbc1d22a |
C |
T |
15: 86,098,830 (GRCm39) |
P19S |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,214,067 (GRCm39) |
F313L |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,918,970 (GRCm39) |
Y1151C |
probably damaging |
Het |
Tshz3 |
A |
G |
7: 36,468,866 (GRCm39) |
E285G |
probably damaging |
Het |
Txndc11 |
C |
T |
16: 10,902,656 (GRCm39) |
V664M |
probably damaging |
Het |
Ube2g1 |
A |
T |
11: 72,553,908 (GRCm39) |
N20Y |
probably damaging |
Het |
Ufl1 |
T |
A |
4: 25,265,476 (GRCm39) |
I369L |
probably benign |
Het |
Vwf |
A |
T |
6: 125,660,489 (GRCm39) |
T2666S |
probably benign |
Het |
Yif1a |
A |
G |
19: 5,142,369 (GRCm39) |
M259V |
probably benign |
Het |
Zbtb46 |
T |
C |
2: 181,033,248 (GRCm39) |
D471G |
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 |
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 |
PCR Primer
(F):5'- ACCAAGGCAATATTCTCTGTAGAG -3'
(R):5'- CCCAGGGTTGAAAATCTGACAG -3'
Sequencing Primer
(F):5'- GAGAAATGTGTCTCCTCCTAAGG -3'
(R):5'- GGGTTGAAAATCTGACAGTCTACCC -3'
|
Posted On |
2018-04-27 |