Incidental Mutation 'R2882:Minar1'
| ID |
260350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Minar1
|
| Ensembl Gene |
ENSMUSG00000039313 |
| Gene Name |
membrane integral NOTCH2 associated receptor 1 |
| Synonyms |
DD1, AF529169 |
| MMRRC Submission |
040470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
89469269-89505178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89484855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 181
(V181I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044491]
[ENSMUST00000191465]
|
| AlphaFold |
Q8K3V7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044491
AA Change: V181I
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: V181I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
Pfam:UPF0258
|
760 |
915 |
8.7e-73 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191465
AA Change: V181I
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: V181I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
Pfam:UPF0258
|
759 |
854 |
6.1e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,548,134 (GRCm39) |
Y7C |
probably damaging |
Het |
| Atxn3 |
C |
A |
12: 101,903,670 (GRCm39) |
L178F |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,410,038 (GRCm39) |
S211P |
possibly damaging |
Het |
| Csl |
A |
G |
10: 99,594,787 (GRCm39) |
F93L |
probably damaging |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,047 (GRCm39) |
I173V |
probably benign |
Het |
| Dcaf17 |
A |
G |
2: 70,912,371 (GRCm39) |
I319V |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,077,069 (GRCm39) |
Y258C |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,372,932 (GRCm39) |
E236G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,679 (GRCm39) |
D631G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,202,131 (GRCm39) |
L314F |
probably damaging |
Het |
| Gsdmc |
T |
C |
15: 63,651,644 (GRCm39) |
I259V |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,293,555 (GRCm39) |
L3501F |
possibly damaging |
Het |
| Kdm2a |
A |
G |
19: 4,381,212 (GRCm39) |
|
probably null |
Het |
| Klra1 |
A |
T |
6: 130,354,826 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,340 (GRCm39) |
H615Q |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,236 (GRCm39) |
Y374C |
probably damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,459 (GRCm39) |
E97G |
probably benign |
Het |
| Oasl2 |
C |
T |
5: 115,049,084 (GRCm39) |
R175C |
probably damaging |
Het |
| Or1j19 |
A |
T |
2: 36,677,202 (GRCm39) |
I222F |
probably damaging |
Het |
| Pcdhac2 |
A |
T |
18: 37,278,865 (GRCm39) |
Q615L |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,777,239 (GRCm39) |
Y502N |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
A |
13: 59,890,757 (GRCm39) |
Q354H |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,979,359 (GRCm39) |
V163A |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,458 (GRCm39) |
T240M |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,415,365 (GRCm39) |
I785T |
possibly damaging |
Het |
|
| Other mutations in Minar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Minar1
|
APN |
9 |
89,483,853 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00163:Minar1
|
APN |
9 |
89,473,150 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00336:Minar1
|
APN |
9 |
89,485,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Minar1
|
APN |
9 |
89,478,551 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01818:Minar1
|
APN |
9 |
89,483,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02012:Minar1
|
APN |
9 |
89,483,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02259:Minar1
|
APN |
9 |
89,484,412 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02894:Minar1
|
APN |
9 |
89,485,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03008:Minar1
|
APN |
9 |
89,478,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Minar1
|
UTSW |
9 |
89,484,792 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0410:Minar1
|
UTSW |
9 |
89,484,256 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0825:Minar1
|
UTSW |
9 |
89,485,332 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Minar1
|
UTSW |
9 |
89,484,470 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0989:Minar1
|
UTSW |
9 |
89,484,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1376:Minar1
|
UTSW |
9 |
89,473,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Minar1
|
UTSW |
9 |
89,473,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Minar1
|
UTSW |
9 |
89,484,413 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1804:Minar1
|
UTSW |
9 |
89,485,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1974:Minar1
|
UTSW |
9 |
89,483,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Minar1
|
UTSW |
9 |
89,484,221 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2909:Minar1
|
UTSW |
9 |
89,473,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Minar1
|
UTSW |
9 |
89,483,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Minar1
|
UTSW |
9 |
89,483,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Minar1
|
UTSW |
9 |
89,483,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Minar1
|
UTSW |
9 |
89,483,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4778:Minar1
|
UTSW |
9 |
89,485,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Minar1
|
UTSW |
9 |
89,483,705 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5300:Minar1
|
UTSW |
9 |
89,485,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5702:Minar1
|
UTSW |
9 |
89,473,208 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5759:Minar1
|
UTSW |
9 |
89,483,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6187:Minar1
|
UTSW |
9 |
89,473,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Minar1
|
UTSW |
9 |
89,483,679 (GRCm39) |
missense |
probably benign |
|
|
R7542:Minar1
|
UTSW |
9 |
89,483,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Minar1
|
UTSW |
9 |
89,483,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Minar1
|
UTSW |
9 |
89,483,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9181:Minar1
|
UTSW |
9 |
89,485,394 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9220:Minar1
|
UTSW |
9 |
89,484,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Minar1
|
UTSW |
9 |
89,484,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9666:Minar1
|
UTSW |
9 |
89,484,072 (GRCm39) |
missense |
probably benign |
0.06 |
|
U24488:Minar1
|
UTSW |
9 |
89,485,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Minar1
|
UTSW |
9 |
89,485,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAACGGTTCCTCACTGG -3'
(R):5'- AAGCATCCTTTGAGTCTTGCC -3'
Sequencing Primer
(F):5'- TCCTCACTGGAGATGAAGGTCTC -3'
(R):5'- TTGAGTCTTGCCGGTCCGAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation