Incidental Mutation 'R5721:Mpv17l'
| ID |
451458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpv17l
|
| Ensembl Gene |
ENSMUSG00000022679 |
| Gene Name |
Mpv17 transgene, kidney disease mutant-like |
| Synonyms |
M-LP |
| MMRRC Submission |
043189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5721 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13721025-13767483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13764658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 62
(Y62H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023360]
[ENSMUST00000124947]
[ENSMUST00000128757]
[ENSMUST00000141971]
[ENSMUST00000143697]
[ENSMUST00000148966]
[ENSMUST00000156143]
|
| AlphaFold |
Q99MS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023360
AA Change: Y152H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023360
Gene: ENSMUSG00000022679
AA Change: Y152H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpv17_PMP22
|
106 |
169 |
2.5e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124947
AA Change: Y48H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117826
Gene: ENSMUSG00000022679
AA Change: Y48H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpv17_PMP22
|
1 |
66 |
3.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128757
AA Change: Y54H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120169
Gene: ENSMUSG00000022679
AA Change: Y54H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpv17_PMP22
|
7 |
72 |
5.3e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141971
AA Change: Y62H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123424
Gene: ENSMUSG00000022679
AA Change: Y62H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpv17_PMP22
|
15 |
80 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148966
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156143
AA Change: Y57H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123656
Gene: ENSMUSG00000022679
AA Change: Y57H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mpv17_PMP22
|
10 |
73 |
1.9e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
| Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
| Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
| Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
| Drc7 |
T |
C |
8: 95,800,961 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
| Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
| Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
| Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
| Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
| Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
| Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
| Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
| Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
| Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
| Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
| Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
| Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
probably damaging |
Het |
|
| Other mutations in Mpv17l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0314:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0315:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0384:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0385:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0388:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0440:Mpv17l
|
UTSW |
16 |
13,762,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Mpv17l
|
UTSW |
16 |
13,764,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Mpv17l
|
UTSW |
16 |
13,758,537 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5805:Mpv17l
|
UTSW |
16 |
13,760,013 (GRCm39) |
intron |
probably benign |
|
|
R6488:Mpv17l
|
UTSW |
16 |
13,764,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8271:Mpv17l
|
UTSW |
16 |
13,762,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8375:Mpv17l
|
UTSW |
16 |
13,758,863 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8447:Mpv17l
|
UTSW |
16 |
13,758,864 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9535:Mpv17l
|
UTSW |
16 |
13,759,149 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mpv17l
|
UTSW |
16 |
13,758,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTAGGAGAGCGTTCAC -3'
(R):5'- TCCTCATGATGGAGCCCGTAAC -3'
Sequencing Primer
(F):5'- AGCGTTCACCTAGTAAGTGC -3'
(R):5'- CTGCCAGTGATTGAGACCGATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation