Incidental Mutation 'R1632:Minar1'
| ID |
172858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Minar1
|
| Ensembl Gene |
ENSMUSG00000039313 |
| Gene Name |
membrane integral NOTCH2 associated receptor 1 |
| Synonyms |
DD1, AF529169 |
| MMRRC Submission |
039669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1632 (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 A
at 89484413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 328
(H328L)
|
| 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: H328L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046111
Gene: ENSMUSG00000039313
AA Change: H328L
| 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: H328L
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140942
Gene: ENSMUSG00000039313
AA Change: H328L
| 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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,156,069 (GRCm39) |
Y696N |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,824,169 (GRCm39) |
T537A |
probably benign |
Het |
| Capn15 |
A |
T |
17: 26,179,639 (GRCm39) |
F841Y |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,675,420 (GRCm39) |
R396* |
probably null |
Het |
| Chd9 |
A |
T |
8: 91,683,335 (GRCm39) |
K592* |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,335,561 (GRCm39) |
H411L |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,443,148 (GRCm39) |
M394I |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,116 (GRCm39) |
V11A |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,164,123 (GRCm39) |
I134N |
probably damaging |
Het |
| Enpp4 |
G |
T |
17: 44,410,544 (GRCm39) |
S344Y |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,031,687 (GRCm39) |
S14P |
probably benign |
Het |
| Fancm |
T |
G |
12: 65,177,105 (GRCm39) |
I1983S |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,992,032 (GRCm39) |
T555A |
unknown |
Het |
| Gemin4 |
A |
T |
11: 76,101,815 (GRCm39) |
M982K |
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,479,518 (GRCm39) |
R590G |
probably benign |
Het |
| H2-M3 |
G |
A |
17: 37,582,054 (GRCm39) |
R170H |
probably benign |
Het |
| Hoxa13 |
G |
T |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Hspb3 |
A |
G |
13: 113,799,589 (GRCm39) |
V147A |
probably benign |
Het |
| Il6st |
G |
T |
13: 112,640,866 (GRCm39) |
D820Y |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,129,832 (GRCm39) |
V448A |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,283,387 (GRCm39) |
D991G |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,193,507 (GRCm39) |
D140G |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,296,250 (GRCm39) |
L399P |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,506,794 (GRCm39) |
|
probably null |
Het |
| Map2 |
C |
T |
1: 66,454,245 (GRCm39) |
T1045M |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,821 (GRCm39) |
I321V |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,445 (GRCm39) |
S383G |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,459 (GRCm39) |
M735T |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,006,078 (GRCm39) |
K254R |
probably benign |
Het |
| Nphp1 |
G |
T |
2: 127,612,312 (GRCm39) |
P212T |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,586 (GRCm39) |
M228K |
possibly damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,812 (GRCm39) |
Y5* |
probably null |
Het |
| Pclo |
A |
C |
5: 14,730,017 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
A |
2: 34,801,631 (GRCm39) |
R60W |
probably damaging |
Het |
| Pou2af2 |
T |
C |
9: 51,201,702 (GRCm39) |
D118G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,084,824 (GRCm39) |
P91S |
probably benign |
Het |
| Rttn |
C |
T |
18: 89,027,460 (GRCm39) |
T525I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,793,686 (GRCm39) |
M1268V |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,770,740 (GRCm39) |
E263G |
possibly damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,455,810 (GRCm39) |
A155V |
possibly damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,027 (GRCm39) |
|
probably null |
Het |
| Socs4 |
A |
G |
14: 47,527,034 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,260 (GRCm39) |
I267T |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,839,363 (GRCm39) |
C470Y |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,118 (GRCm39) |
H241L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,000 (GRCm39) |
I140F |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,876 (GRCm39) |
D216G |
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 |
|
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'- AATCAGGCACTTCCTCCGTGTTTAG -3'
(R):5'- GAGAACGAGCCCATGTCAGATCAG -3'
Sequencing Primer
(F):5'- AGGCTCCAGCTTTTGGC -3'
(R):5'- TTCATCTCCAGTGAGGAACCG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation