Incidental Mutation 'R0825:Minar1'
ID |
78184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Minar1
|
Ensembl Gene |
ENSMUSG00000039313 |
Gene Name |
membrane integral NOTCH2 associated receptor 1 |
Synonyms |
DD1, AF529169 |
MMRRC Submission |
039005-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0825 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
89469269-89505178 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 89485332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 22
(Q22*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044491]
[ENSMUST00000191465]
|
AlphaFold |
Q8K3V7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044491
AA Change: Q22*
|
SMART Domains |
Protein: ENSMUSP00000046111 Gene: ENSMUSG00000039313 AA Change: Q22*
Domain | Start | End | E-Value | Type |
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
Pfam:UPF0258
|
760 |
915 |
8.7e-73 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191465
AA Change: Q22*
|
SMART Domains |
Protein: ENSMUSP00000140942 Gene: ENSMUSG00000039313 AA Change: Q22*
Domain | Start | End | E-Value | Type |
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
Pfam:UPF0258
|
759 |
854 |
6.1e-38 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.4%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,619,551 (GRCm39) |
I963N |
probably damaging |
Het |
Aox4 |
A |
G |
1: 58,288,068 (GRCm39) |
D727G |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,334,014 (GRCm39) |
I590N |
probably damaging |
Het |
Arid1b |
T |
G |
17: 5,392,453 (GRCm39) |
C1994W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,777,825 (GRCm39) |
I2628T |
probably benign |
Het |
Clspn |
G |
A |
4: 126,466,923 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
T |
7: 26,012,341 (GRCm39) |
T375S |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,180,388 (GRCm39) |
M226K |
probably damaging |
Het |
Erap1 |
T |
C |
13: 74,822,733 (GRCm39) |
|
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,394 (GRCm39) |
D1405G |
possibly damaging |
Het |
Gfm2 |
A |
T |
13: 97,279,612 (GRCm39) |
|
probably benign |
Het |
Ghsr |
T |
C |
3: 27,428,776 (GRCm39) |
V267A |
probably damaging |
Het |
Golga2 |
A |
C |
2: 32,194,803 (GRCm39) |
Q650P |
probably damaging |
Het |
Hmgcl |
A |
G |
4: 135,687,381 (GRCm39) |
T219A |
probably benign |
Het |
Ift27 |
C |
A |
15: 78,049,336 (GRCm39) |
|
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,890,864 (GRCm39) |
E2379K |
probably damaging |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kpnb1 |
A |
T |
11: 97,062,501 (GRCm39) |
S421R |
probably damaging |
Het |
Mtx3 |
C |
A |
13: 92,986,849 (GRCm39) |
T264K |
probably damaging |
Het |
Nrg3 |
G |
A |
14: 39,194,348 (GRCm39) |
P137L |
possibly damaging |
Het |
Nt5c2 |
A |
G |
19: 46,887,344 (GRCm39) |
|
probably benign |
Het |
Or2y1e |
T |
A |
11: 49,218,509 (GRCm39) |
H90Q |
probably benign |
Het |
Or5ac17 |
G |
T |
16: 59,036,813 (GRCm39) |
H54Q |
possibly damaging |
Het |
Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
Pdcd5 |
G |
A |
7: 35,346,338 (GRCm39) |
R91W |
possibly damaging |
Het |
Pxdn |
G |
A |
12: 30,034,995 (GRCm39) |
|
probably benign |
Het |
Rgl2 |
T |
A |
17: 34,154,133 (GRCm39) |
|
probably null |
Het |
Rnf217 |
T |
C |
10: 31,393,453 (GRCm39) |
D376G |
probably damaging |
Het |
Septin9 |
C |
T |
11: 117,250,286 (GRCm39) |
L519F |
probably damaging |
Het |
Slc15a5 |
C |
T |
6: 137,995,087 (GRCm39) |
C386Y |
possibly damaging |
Het |
Srrm4 |
T |
A |
5: 116,591,772 (GRCm39) |
I256F |
unknown |
Het |
Stab1 |
G |
T |
14: 30,874,557 (GRCm39) |
D950E |
probably benign |
Het |
Stim2 |
A |
G |
5: 54,275,825 (GRCm39) |
T667A |
probably benign |
Het |
Strbp |
A |
T |
2: 37,525,539 (GRCm39) |
N144K |
probably benign |
Het |
Sync |
A |
G |
4: 129,187,190 (GRCm39) |
Y74C |
probably benign |
Het |
Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
Tgfbi |
T |
C |
13: 56,786,523 (GRCm39) |
|
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,152,956 (GRCm39) |
N372K |
probably benign |
Het |
Ubr4 |
G |
T |
4: 139,206,887 (GRCm39) |
|
probably null |
Het |
Uggt1 |
A |
T |
1: 36,197,224 (GRCm39) |
N1226K |
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,054,560 (GRCm39) |
I74V |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,017,917 (GRCm39) |
L2541P |
probably damaging |
Het |
Zfhx3 |
T |
G |
8: 109,675,840 (GRCm39) |
F2297V |
probably 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 |
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 |
R2882:Minar1
|
UTSW |
9 |
89,484,855 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- ACTCAAAGGATGCTTCCTTCTTGCG -3'
(R):5'- GGACCTAGAACTGTGCTGCTGTTTC -3'
Sequencing Primer
(F):5'- GAAGATTGTTACGATATCTGCTGCC -3'
(R):5'- AACTGTGCTGCTGTTTCTAATTGTC -3'
|
Posted On |
2013-10-16 |