Incidental Mutation 'R3421:Amn1'
| ID |
267042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amn1
|
| Ensembl Gene |
ENSMUSG00000068250 |
| Gene Name |
antagonist of mitotic exit network 1 |
| Synonyms |
C730024G19Rik |
| MMRRC Submission |
040639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3421 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
149059075-149090210 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 149070950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 196
(L196*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095319]
[ENSMUST00000111535]
[ENSMUST00000141346]
|
| AlphaFold |
B8JKV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095319
AA Change: L153*
|
| SMART Domains |
Protein: ENSMUSP00000092957
Gene: ENSMUSG00000068250
AA Change: L153*
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
17 |
41 |
2.82e0 |
SMART |
|
LRR
|
42 |
70 |
1.52e2 |
SMART |
|
LRR
|
71 |
96 |
1.25e-1 |
SMART |
|
LRR
|
97 |
122 |
3.89e-3 |
SMART |
|
LRR
|
123 |
147 |
1.44e1 |
SMART |
|
LRR
|
150 |
175 |
1.28e1 |
SMART |
|
Blast:LRR
|
176 |
204 |
3e-10 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111535
AA Change: L196*
|
| SMART Domains |
Protein: ENSMUSP00000107160
Gene: ENSMUSG00000068250
AA Change: L196*
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
60 |
84 |
2.82e0 |
SMART |
|
LRR
|
85 |
113 |
1.52e2 |
SMART |
|
LRR
|
114 |
139 |
1.25e-1 |
SMART |
|
LRR
|
140 |
165 |
3.89e-3 |
SMART |
|
LRR
|
166 |
190 |
1.44e1 |
SMART |
|
LRR
|
193 |
218 |
1.28e1 |
SMART |
|
Blast:LRR
|
219 |
247 |
4e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134181
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141346
|
| SMART Domains |
Protein: ENSMUSP00000116060
Gene: ENSMUSG00000068250
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
17 |
41 |
2.82e0 |
SMART |
|
LRR
|
42 |
70 |
1.52e2 |
SMART |
|
LRR
|
71 |
96 |
1.25e-1 |
SMART |
|
LRR
|
97 |
121 |
1.44e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204681
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,350,697 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,495 (GRCm39) |
Y356* |
probably null |
Het |
| Ccdc40 |
C |
T |
11: 119,125,605 (GRCm39) |
P348L |
probably benign |
Het |
| Chrdl2 |
G |
A |
7: 99,673,075 (GRCm39) |
C9Y |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,038 (GRCm39) |
D192G |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Dmgdh |
T |
C |
13: 93,847,869 (GRCm39) |
V522A |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,041,332 (GRCm39) |
Y246N |
probably damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,417,354 (GRCm39) |
M518L |
probably benign |
Het |
| Hoxc6 |
T |
A |
15: 102,919,327 (GRCm39) |
W188R |
probably damaging |
Het |
| Igfn1 |
C |
T |
1: 135,904,655 (GRCm39) |
|
probably null |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,113,230 (GRCm39) |
E453V |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,013,337 (GRCm39) |
Y80C |
probably damaging |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4c123 |
C |
G |
2: 89,126,897 (GRCm39) |
S239T |
probably benign |
Het |
| Or4g7 |
A |
G |
2: 111,309,297 (GRCm39) |
H56R |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or8d1 |
A |
G |
9: 38,766,621 (GRCm39) |
K88E |
possibly damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,459,774 (GRCm39) |
V124A |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,990 (GRCm39) |
I230T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc25a17 |
C |
T |
15: 81,244,901 (GRCm39) |
V11I |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,213,964 (GRCm39) |
D52E |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Telo2 |
C |
T |
17: 25,329,726 (GRCm39) |
R262Q |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,803,366 (GRCm39) |
*490R |
probably null |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp712 |
C |
T |
13: 67,200,456 (GRCm39) |
V10M |
probably damaging |
Het |
|
| Other mutations in Amn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02391:Amn1
|
APN |
6 |
149,070,944 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4453001:Amn1
|
UTSW |
6 |
149,072,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0153:Amn1
|
UTSW |
6 |
149,090,091 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0494:Amn1
|
UTSW |
6 |
149,086,634 (GRCm39) |
unclassified |
probably benign |
|
|
R0557:Amn1
|
UTSW |
6 |
149,072,503 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0717:Amn1
|
UTSW |
6 |
149,084,970 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0736:Amn1
|
UTSW |
6 |
149,084,970 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3420:Amn1
|
UTSW |
6 |
149,070,950 (GRCm39) |
nonsense |
probably null |
|
|
R4466:Amn1
|
UTSW |
6 |
149,068,343 (GRCm39) |
splice site |
probably null |
|
|
R4760:Amn1
|
UTSW |
6 |
149,086,611 (GRCm39) |
missense |
probably benign |
|
|
R5294:Amn1
|
UTSW |
6 |
149,086,622 (GRCm39) |
unclassified |
probably benign |
|
|
R5356:Amn1
|
UTSW |
6 |
149,068,392 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5561:Amn1
|
UTSW |
6 |
149,086,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7501:Amn1
|
UTSW |
6 |
149,086,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7564:Amn1
|
UTSW |
6 |
149,086,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7643:Amn1
|
UTSW |
6 |
149,086,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7645:Amn1
|
UTSW |
6 |
149,086,529 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8097:Amn1
|
UTSW |
6 |
149,070,853 (GRCm39) |
unclassified |
probably benign |
|
|
R9390:Amn1
|
UTSW |
6 |
149,084,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Amn1
|
UTSW |
6 |
149,090,103 (GRCm39) |
start gained |
probably benign |
|
|
X0064:Amn1
|
UTSW |
6 |
149,072,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCAGCAGGTTATCTCAGG -3'
(R):5'- GCCCCTAACTCAGAACAATGTATTTG -3'
Sequencing Primer
(F):5'- AGCAGGTTATCTCAGGTTTGTTGTAC -3'
(R):5'- AGGGGCATTGAACTCACTCTTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation