Incidental Mutation 'R6375:Tmc5'
ID |
514917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc5
|
Ensembl Gene |
ENSMUSG00000030650 |
Gene Name |
transmembrane channel-like gene family 5 |
Synonyms |
4932443L08Rik |
MMRRC Submission |
044525-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R6375 (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 A
at 118256037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 704
(V704E)
|
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: V494E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049784 Gene: ENSMUSG00000030650 AA Change: V494E
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: V704E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095694 Gene: ENSMUSG00000030650 AA Change: V704E
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: V704E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112434 Gene: ENSMUSG00000030650 AA Change: V704E
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: V704E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114137 Gene: ENSMUSG00000030650 AA Change: V704E
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 |
0.5254 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
All alleles(5) : Gene trapped(5)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,606,536 (GRCm39) |
I797N |
possibly damaging |
Het |
Actbl2 |
A |
G |
13: 111,392,478 (GRCm39) |
E271G |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,084 (GRCm39) |
N526D |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,355,051 (GRCm39) |
N389K |
probably damaging |
Het |
Ccdc18 |
T |
C |
5: 108,322,820 (GRCm39) |
I640T |
possibly damaging |
Het |
Ccdc39 |
T |
A |
3: 33,868,516 (GRCm39) |
T857S |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
Efhc1 |
T |
A |
1: 21,043,164 (GRCm39) |
M361K |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,765,127 (GRCm39) |
|
|
Het |
Fgfr2 |
C |
A |
7: 129,769,475 (GRCm39) |
L637F |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,492,164 (GRCm39) |
|
probably null |
Het |
Gm4302 |
A |
G |
10: 100,177,258 (GRCm39) |
T181A |
probably benign |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hoxb4 |
A |
G |
11: 96,211,153 (GRCm39) |
*251W |
probably null |
Het |
Il1r1 |
T |
A |
1: 40,334,050 (GRCm39) |
Y207N |
probably damaging |
Het |
Kcnc2 |
C |
T |
10: 112,299,094 (GRCm39) |
T622M |
possibly damaging |
Het |
Kcnk9 |
C |
T |
15: 72,418,092 (GRCm39) |
A13T |
probably benign |
Het |
Kdm4c |
C |
T |
4: 74,248,952 (GRCm39) |
P69S |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,704,517 (GRCm39) |
S1237P |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,391,915 (GRCm39) |
T1170I |
probably benign |
Het |
Lyn |
T |
A |
4: 3,745,527 (GRCm39) |
F109I |
probably damaging |
Het |
Lynx1 |
T |
C |
15: 74,623,168 (GRCm39) |
Y88C |
probably damaging |
Het |
Mon1b |
T |
A |
8: 114,364,709 (GRCm39) |
I162N |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,555,061 (GRCm39) |
|
probably benign |
Het |
Nbn |
T |
A |
4: 15,979,327 (GRCm39) |
F437L |
probably benign |
Het |
Neil3 |
T |
C |
8: 54,040,311 (GRCm39) |
K564E |
possibly damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,710,877 (GRCm39) |
S293T |
probably damaging |
Het |
Or10al5 |
T |
A |
17: 38,062,990 (GRCm39) |
S82T |
probably benign |
Het |
Or14c39 |
C |
T |
7: 86,344,267 (GRCm39) |
A201V |
probably benign |
Het |
Or2ag2 |
C |
A |
7: 106,485,221 (GRCm39) |
A268S |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,622,960 (GRCm39) |
T80A |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,651,357 (GRCm39) |
|
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,678 (GRCm39) |
N129D |
probably damaging |
Het |
Pias2 |
C |
T |
18: 77,240,366 (GRCm39) |
T574M |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,061,840 (GRCm39) |
T2564I |
probably damaging |
Het |
Qrich2 |
A |
G |
11: 116,349,054 (GRCm39) |
|
probably benign |
Het |
Scgb1b12 |
T |
A |
7: 32,033,884 (GRCm39) |
V48E |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,372,422 (GRCm39) |
L224Q |
probably damaging |
Het |
Snx3 |
T |
A |
10: 42,410,727 (GRCm39) |
Y132* |
probably null |
Het |
Stk39 |
T |
A |
2: 68,222,582 (GRCm39) |
I161F |
probably benign |
Het |
Tcaf2 |
A |
C |
6: 42,603,112 (GRCm39) |
L816R |
probably damaging |
Het |
Thap4 |
C |
A |
1: 93,652,878 (GRCm39) |
|
probably null |
Het |
Tmem39a |
A |
G |
16: 38,405,599 (GRCm39) |
T59A |
probably benign |
Het |
Tshz2 |
A |
G |
2: 169,727,939 (GRCm39) |
N376S |
probably damaging |
Het |
Vmn1r60 |
T |
C |
7: 5,548,017 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp637 |
C |
T |
6: 117,822,285 (GRCm39) |
R138W |
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 |
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'- ACTTTGGTACATGTGAGCCTTACAG -3'
(R):5'- TCCTGAAGGACAATGGGCAG -3'
Sequencing Primer
(F):5'- CTTACAGGGTATGTAGGGAGTACAG -3'
(R):5'- TGGGCAGATTAGACACACAGC -3'
|
Posted On |
2018-05-04 |