Incidental Mutation 'IGL02699:Mansc1'
ID |
304067 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mansc1
|
Ensembl Gene |
ENSMUSG00000032718 |
Gene Name |
MANSC domain containing 1 |
Synonyms |
9130403P13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL02699
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
134586170-134609451 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134587317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 287
(T287A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038346
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047443]
|
AlphaFold |
Q9CR33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047443
AA Change: T287A
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000038346 Gene: ENSMUSG00000032718 AA Change: T287A
Domain | Start | End | E-Value | Type |
MANEC
|
23 |
116 |
3.87e-44 |
SMART |
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
low complexity region
|
260 |
271 |
N/A |
INTRINSIC |
transmembrane domain
|
370 |
392 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204630
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,157,853 (GRCm39) |
D198G |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,047,263 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
A |
9: 78,579,271 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
T |
G |
4: 47,284,471 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,493,400 (GRCm39) |
D365G |
probably benign |
Het |
Daam1 |
T |
C |
12: 72,035,717 (GRCm39) |
F971L |
probably damaging |
Het |
Dalrd3 |
T |
A |
9: 108,448,088 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,139,105 (GRCm39) |
|
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fbxo8 |
A |
G |
8: 57,043,223 (GRCm39) |
T236A |
possibly damaging |
Het |
Ighv1-12 |
C |
A |
12: 114,579,736 (GRCm39) |
E29* |
probably null |
Het |
Il17re |
A |
G |
6: 113,445,880 (GRCm39) |
D397G |
probably damaging |
Het |
Ing5 |
A |
G |
1: 93,744,164 (GRCm39) |
N157D |
possibly damaging |
Het |
Ipo11 |
T |
C |
13: 107,025,905 (GRCm39) |
E395G |
possibly damaging |
Het |
Letm1 |
T |
C |
5: 33,902,492 (GRCm39) |
E599G |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,070,851 (GRCm39) |
N131D |
possibly damaging |
Het |
Or10ak13 |
G |
T |
4: 118,639,349 (GRCm39) |
C144* |
probably null |
Het |
Or13p3 |
T |
C |
4: 118,567,395 (GRCm39) |
S264P |
probably benign |
Het |
Or6c2b |
T |
G |
10: 128,947,640 (GRCm39) |
Y218S |
probably benign |
Het |
Or8k38 |
A |
T |
2: 86,488,691 (GRCm39) |
I37N |
probably benign |
Het |
Osm |
T |
C |
11: 4,189,723 (GRCm39) |
V169A |
possibly damaging |
Het |
Phkg2 |
C |
T |
7: 127,181,722 (GRCm39) |
A278V |
probably benign |
Het |
Plod2 |
T |
A |
9: 92,489,195 (GRCm39) |
M709K |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,464,364 (GRCm39) |
|
probably null |
Het |
Ric1 |
T |
C |
19: 29,499,957 (GRCm39) |
L12P |
possibly damaging |
Het |
Skor1 |
C |
A |
9: 63,047,328 (GRCm39) |
|
probably benign |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Syncrip |
A |
G |
9: 88,338,607 (GRCm39) |
|
probably benign |
Het |
Tex2 |
T |
C |
11: 106,459,259 (GRCm39) |
E57G |
possibly damaging |
Het |
Tmc1 |
C |
T |
19: 20,809,714 (GRCm39) |
|
probably null |
Het |
Tmem59 |
T |
C |
4: 107,049,735 (GRCm39) |
M140T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,774,433 (GRCm39) |
T2158A |
probably damaging |
Het |
|
Other mutations in Mansc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00519:Mansc1
|
APN |
6 |
134,587,769 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01141:Mansc1
|
APN |
6 |
134,598,748 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01447:Mansc1
|
APN |
6 |
134,594,289 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01582:Mansc1
|
APN |
6 |
134,598,836 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02121:Mansc1
|
APN |
6 |
134,598,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02214:Mansc1
|
APN |
6 |
134,587,323 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02466:Mansc1
|
APN |
6 |
134,587,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0266:Mansc1
|
UTSW |
6 |
134,587,670 (GRCm39) |
missense |
probably benign |
0.08 |
R0730:Mansc1
|
UTSW |
6 |
134,594,424 (GRCm39) |
splice site |
probably benign |
|
R0849:Mansc1
|
UTSW |
6 |
134,587,670 (GRCm39) |
missense |
probably benign |
0.08 |
R2015:Mansc1
|
UTSW |
6 |
134,587,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3874:Mansc1
|
UTSW |
6 |
134,587,146 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4886:Mansc1
|
UTSW |
6 |
134,587,625 (GRCm39) |
missense |
probably benign |
0.01 |
R5864:Mansc1
|
UTSW |
6 |
134,587,816 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5932:Mansc1
|
UTSW |
6 |
134,587,478 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7233:Mansc1
|
UTSW |
6 |
134,598,806 (GRCm39) |
missense |
probably damaging |
0.98 |
R7576:Mansc1
|
UTSW |
6 |
134,587,674 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7858:Mansc1
|
UTSW |
6 |
134,587,377 (GRCm39) |
missense |
probably benign |
0.23 |
R7981:Mansc1
|
UTSW |
6 |
134,587,274 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8775:Mansc1
|
UTSW |
6 |
134,587,631 (GRCm39) |
missense |
probably benign |
0.10 |
R8775-TAIL:Mansc1
|
UTSW |
6 |
134,587,631 (GRCm39) |
missense |
probably benign |
0.10 |
R9130:Mansc1
|
UTSW |
6 |
134,586,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Mansc1
|
UTSW |
6 |
134,587,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |