Incidental Mutation 'R2909:Minar1'
ID |
261144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Minar1
|
Ensembl Gene |
ENSMUSG00000039313 |
Gene Name |
membrane integral NOTCH2 associated receptor 1 |
Synonyms |
DD1, AF529169 |
MMRRC Submission |
040496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
89469269-89505178 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89473331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 860
(N860S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046111
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044491]
[ENSMUST00000191465]
|
AlphaFold |
Q8K3V7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044491
AA Change: N860S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046111 Gene: ENSMUSG00000039313 AA Change: N860S
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 benign
Transcript: ENSMUST00000191465
|
SMART Domains |
Protein: ENSMUSP00000140942 Gene: ENSMUSG00000039313
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: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
Kbtbd7 |
A |
G |
14: 79,665,922 (GRCm39) |
T585A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
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 |
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 |
R2882:Minar1
|
UTSW |
9 |
89,484,855 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- AGGACTTCATCGTGCAGATTGG -3'
(R):5'- CAGTTTTAGTGAGGGAGGAGCC -3'
Sequencing Primer
(F):5'- TGGCACAACAATGACAAGAATGAC -3'
(R):5'- AATGGGTCCCAGGCAGC -3'
|
Posted On |
2015-01-23 |