Incidental Mutation 'R9560:Minar1'
| ID |
720963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Minar1
|
| Ensembl Gene |
ENSMUSG00000039313 |
| Gene Name |
membrane integral NOTCH2 associated receptor 1 |
| Synonyms |
DD1, AF529169 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
89469269-89505178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89484531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 289
(Q289K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044491]
[ENSMUST00000191465]
|
| AlphaFold |
Q8K3V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044491
AA Change: Q289K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: Q289K
| 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
AA Change: Q289K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: Q289K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,082 (GRCm39) |
R502G |
probably damaging |
Het |
| A930004D18Rik |
G |
A |
2: 18,032,218 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
T |
A |
2: 181,135,103 (GRCm39) |
C2S |
probably damaging |
Het |
| Adam2 |
T |
C |
14: 66,275,102 (GRCm39) |
M544V |
probably benign |
Het |
| Agbl3 |
T |
A |
6: 34,823,843 (GRCm39) |
V841E |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,825 (GRCm39) |
D127G |
probably damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,976,363 (GRCm39) |
E464K |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,821,004 (GRCm39) |
E578V |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,170,942 (GRCm39) |
Q186* |
probably null |
Het |
| Cited4 |
A |
G |
4: 120,524,165 (GRCm39) |
T56A |
probably benign |
Het |
| Cpt1a |
T |
C |
19: 3,402,531 (GRCm39) |
L63P |
possibly damaging |
Het |
| Havcr2 |
C |
A |
11: 46,347,164 (GRCm39) |
A47E |
probably benign |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Klf5 |
A |
T |
14: 99,539,034 (GRCm39) |
Q149L |
probably benign |
Het |
| Klk10 |
A |
G |
7: 43,433,746 (GRCm39) |
Y186C |
probably damaging |
Het |
| Krt79 |
C |
T |
15: 101,846,277 (GRCm39) |
E224K |
probably damaging |
Het |
| Llgl2 |
A |
G |
11: 115,725,682 (GRCm39) |
D10G |
probably damaging |
Het |
| Lrrc37a |
C |
T |
11: 103,347,420 (GRCm39) |
V3092I |
unknown |
Het |
| Nbeal1 |
A |
G |
1: 60,368,544 (GRCm39) |
T2630A |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,263,948 (GRCm39) |
T485A |
possibly damaging |
Het |
| Olfr908 |
G |
A |
9: 38,427,385 (GRCm39) |
S19N |
probably benign |
Het |
| Or10h1b |
C |
T |
17: 33,395,868 (GRCm39) |
T164M |
probably damaging |
Het |
| Or10h5 |
G |
A |
17: 33,434,986 (GRCm39) |
H111Y |
probably damaging |
Het |
| Or4c104 |
A |
C |
2: 88,586,290 (GRCm39) |
I243S |
possibly damaging |
Het |
| Patj |
G |
A |
4: 98,570,289 (GRCm39) |
E1705K |
probably benign |
Het |
| Pcdh17 |
T |
A |
14: 84,770,898 (GRCm39) |
D1125E |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,523 (GRCm39) |
V376A |
possibly damaging |
Het |
| Pramel42 |
A |
T |
5: 94,685,640 (GRCm39) |
R433S |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,158,131 (GRCm39) |
L414Q |
probably damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Slc22a23 |
A |
G |
13: 34,381,851 (GRCm39) |
V411A |
possibly damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,515,076 (GRCm39) |
V657A |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,202,110 (GRCm39) |
T633A |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,789,693 (GRCm39) |
F96S |
probably damaging |
Het |
| Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,663,016 (GRCm39) |
Q103H |
probably damaging |
Het |
| Ubac2 |
G |
A |
14: 122,145,636 (GRCm39) |
G98D |
possibly damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,248 (GRCm39) |
V136D |
possibly damaging |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,382 (GRCm39) |
M207L |
probably benign |
Het |
| Zfp853 |
T |
C |
5: 143,275,080 (GRCm39) |
E195G |
unknown |
Het |
| Zfyve9 |
A |
T |
4: 108,575,334 (GRCm39) |
N582K |
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 |
|
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 |
|
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'- CAGCGCCTGGTATCTTGTGTTC -3'
(R):5'- TTGAGAACGAGCCCATGTCAG -3'
Sequencing Primer
(F):5'- TTCCCATCACTGGAGTGGGTC -3'
(R):5'- ATGTCAGATCAGGACTCTCTGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation