Incidental Mutation 'R7858:Mansc1'
| ID |
607333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mansc1
|
| Ensembl Gene |
ENSMUSG00000032718 |
| Gene Name |
MANSC domain containing 1 |
| Synonyms |
9130403P13Rik |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
134586170-134609451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134587377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047443]
|
| AlphaFold |
Q9CR33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047443
AA Change: T267A
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: T267A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,877,483 (GRCm39) |
E356G |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
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 |
|
IGL02699:Mansc1
|
APN |
6 |
134,587,317 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGACTCTGAGGTTGAGC -3'
(R):5'- AAAGCCATTCTCAGAGTTTACAGC -3'
Sequencing Primer
(F):5'- AAGACTCTGAGGTTGAGCTTTTCCC -3'
(R):5'- GAGTTTACAGCTTCCCTCAGAAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation