Incidental Mutation 'R0759:Amdhd2'
| ID |
474009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amdhd2
|
| Ensembl Gene |
ENSMUSG00000036820 |
| Gene Name |
amidohydrolase domain containing 2 |
| Synonyms |
5730457F11Rik |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R0759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24374807-24382740 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24380587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 119
(C119F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024932]
[ENSMUST00000040735]
[ENSMUST00000098862]
[ENSMUST00000129523]
[ENSMUST00000150647]
[ENSMUST00000202853]
[ENSMUST00000148541]
|
| AlphaFold |
Q8JZV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024932
|
| SMART Domains |
Protein: ENSMUSP00000024932
Gene: ENSMUSG00000024121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
14 |
79 |
5.6e-17 |
PFAM |
|
Pfam:ATP-synt_C
|
90 |
155 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
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: ENSMUST00000098862
|
| SMART Domains |
Protein: ENSMUSP00000111059
Gene: ENSMUSG00000024121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
15 |
77 |
1.1e-14 |
PFAM |
|
Pfam:ATP-synt_C
|
92 |
153 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129523
AA Change: C119F
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820
AA Change: C119F
| 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 |
noncoding transcript
Transcript: ENSMUST00000156061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150647
|
| SMART Domains |
Protein: ENSMUSP00000122843
Gene: ENSMUSG00000024121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
32 |
85 |
5.1e-15 |
PFAM |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202853
|
| SMART Domains |
Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
42 |
259 |
8.8e-6 |
SMART |
|
Blast:TLDc
|
283 |
321 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148541
|
| SMART Domains |
Protein: ENSMUSP00000121464
Gene: ENSMUSG00000024121
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-synt_C
|
14 |
79 |
5.2e-17 |
PFAM |
|
Pfam:ATP-synt_C
|
90 |
150 |
1.2e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,508,396 (GRCm39) |
N531S |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,954 (GRCm39) |
C24Y |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
A |
2: 129,146,607 (GRCm39) |
D162V |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,135,868 (GRCm39) |
L375P |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,714 (GRCm39) |
I400N |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
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 |
|
IGL03127:Amdhd2
|
APN |
17 |
24,376,712 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0619:Amdhd2
|
UTSW |
17 |
24,375,562 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation