Incidental Mutation 'R3962:Minar1'
ID |
312130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Minar1
|
Ensembl Gene |
ENSMUSG00000039313 |
Gene Name |
membrane integral NOTCH2 associated receptor 1 |
Synonyms |
DD1, AF529169 |
MMRRC Submission |
040837-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3962 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
89469269-89505178 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89483963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 478
(T478I)
|
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: T478I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046111 Gene: ENSMUSG00000039313 AA Change: T478I
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 damaging
Transcript: ENSMUST00000191465
AA Change: T478I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140942 Gene: ENSMUSG00000039313 AA Change: T478I
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 |
0.1416 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
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 |
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 |
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'- AGGATGACTGTATCACTCCTGTG -3'
(R):5'- ATTTCTCAGGCCCAGACAGG -3'
Sequencing Primer
(F):5'- TCCTGTGGAGCCGCTGATG -3'
(R):5'- CAGACAGGCATCCAGTTTACTTGG -3'
|
Posted On |
2015-04-29 |