Incidental Mutation 'IGL03127:Amdhd2'
| ID |
410199 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Amdhd2
|
| Ensembl Gene |
ENSMUSG00000036820 |
| Gene Name |
amidohydrolase domain containing 2 |
| Synonyms |
5730457F11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24374807-24382740 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 24376712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040735]
[ENSMUST00000040735]
[ENSMUST00000129523]
|
| AlphaFold |
Q8JZV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040735
|
| SMART Domains |
Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
62 |
401 |
7.2e-18 |
PFAM |
|
Pfam:Amidohydro_3
|
327 |
404 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000040735
|
| SMART Domains |
Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
62 |
401 |
7.2e-18 |
PFAM |
|
Pfam:Amidohydro_3
|
327 |
404 |
5.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129523
|
| SMART Domains |
Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
1 |
71 |
1.5e-7 |
PFAM |
|
Pfam:Amidohydro_4
|
22 |
176 |
2.5e-9 |
PFAM |
|
Pfam:Amidohydro_1
|
27 |
134 |
2.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138685
|
| SMART Domains |
Protein: ENSMUSP00000122523
Gene: ENSMUSG00000036820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
5 |
57 |
1.1e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
| Other mutations in Amdhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01546:Amdhd2
|
APN |
17 |
24,382,574 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL01868:Amdhd2
|
APN |
17 |
24,376,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02889:Amdhd2
|
APN |
17 |
24,376,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Amdhd2
|
UTSW |
17 |
24,375,562 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0759:Amdhd2
|
UTSW |
17 |
24,380,587 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0970:Amdhd2
|
UTSW |
17 |
24,375,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1657:Amdhd2
|
UTSW |
17 |
24,375,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Amdhd2
|
UTSW |
17 |
24,376,860 (GRCm39) |
splice site |
probably null |
|
|
R2080:Amdhd2
|
UTSW |
17 |
24,375,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2127:Amdhd2
|
UTSW |
17 |
24,377,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2871:Amdhd2
|
UTSW |
17 |
24,376,829 (GRCm39) |
unclassified |
probably benign |
|
|
R4419:Amdhd2
|
UTSW |
17 |
24,377,652 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5681:Amdhd2
|
UTSW |
17 |
24,375,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Amdhd2
|
UTSW |
17 |
24,377,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6413:Amdhd2
|
UTSW |
17 |
24,377,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Amdhd2
|
UTSW |
17 |
24,380,657 (GRCm39) |
missense |
|
|
|
R8276:Amdhd2
|
UTSW |
17 |
24,382,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8831:Amdhd2
|
UTSW |
17 |
24,376,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9327:Amdhd2
|
UTSW |
17 |
24,377,421 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation