Incidental Mutation 'R6655:AAdacl4fm3'
| ID |
526584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AAdacl4fm3
|
| Ensembl Gene |
ENSMUSG00000041735 |
| Gene Name |
AADACL4 family member 3 |
| Synonyms |
Gm13178 |
| MMRRC Submission |
044776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6655 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144429761-144447974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144431815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 130
(D130V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036876]
|
| AlphaFold |
B1AVU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036876
AA Change: D130V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: D130V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
43 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
84 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
116 |
286 |
2.3e-27 |
PFAM |
|
Pfam:Abhydrolase_3
|
287 |
382 |
8.8e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209924
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Alg3 |
T |
A |
16: 20,427,776 (GRCm39) |
Y12F |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,036,163 (GRCm39) |
Y1699H |
probably damaging |
Het |
| Cd109 |
A |
G |
9: 78,592,220 (GRCm39) |
D778G |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,039,870 (GRCm39) |
V1430A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,235 (GRCm39) |
V1669I |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,985,320 (GRCm39) |
Y278C |
probably damaging |
Het |
| Gm5160 |
T |
C |
18: 14,558,187 (GRCm39) |
F88S |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,391 (GRCm39) |
N483S |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,284,202 (GRCm39) |
S3859P |
probably benign |
Het |
| Myof |
T |
C |
19: 37,923,239 (GRCm39) |
N1351S |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,981,696 (GRCm39) |
E596G |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,801,742 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,807,868 (GRCm39) |
L10P |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,472,036 (GRCm39) |
M122K |
probably damaging |
Het |
| Or6c213 |
T |
C |
10: 129,573,956 (GRCm39) |
T277A |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,167,170 (GRCm39) |
|
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,982,208 (GRCm39) |
M420T |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,377,247 (GRCm39) |
V5L |
probably benign |
Het |
| Sec22b |
T |
A |
3: 97,821,964 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 43,976,644 (GRCm39) |
I581V |
unknown |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,223 (GRCm39) |
|
probably null |
Het |
| Veph1 |
T |
A |
3: 66,113,034 (GRCm39) |
I257F |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,886 (GRCm39) |
I109S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,290,965 (GRCm39) |
V131A |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,512 (GRCm39) |
L530P |
possibly damaging |
Het |
|
| Other mutations in AAdacl4fm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:AAdacl4fm3
|
APN |
4 |
144,430,263 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01985:AAdacl4fm3
|
APN |
4 |
144,442,024 (GRCm39) |
nonsense |
probably null |
|
|
IGL02587:AAdacl4fm3
|
APN |
4 |
144,429,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
P0018:AAdacl4fm3
|
UTSW |
4 |
144,429,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:AAdacl4fm3
|
UTSW |
4 |
144,429,765 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1617:AAdacl4fm3
|
UTSW |
4 |
144,441,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:AAdacl4fm3
|
UTSW |
4 |
144,430,074 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4409:AAdacl4fm3
|
UTSW |
4 |
144,447,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4577:AAdacl4fm3
|
UTSW |
4 |
144,430,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:AAdacl4fm3
|
UTSW |
4 |
144,429,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5069:AAdacl4fm3
|
UTSW |
4 |
144,430,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:AAdacl4fm3
|
UTSW |
4 |
144,430,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:AAdacl4fm3
|
UTSW |
4 |
144,430,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:AAdacl4fm3
|
UTSW |
4 |
144,429,766 (GRCm39) |
missense |
probably benign |
|
|
R6148:AAdacl4fm3
|
UTSW |
4 |
144,447,887 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6466:AAdacl4fm3
|
UTSW |
4 |
144,430,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7006:AAdacl4fm3
|
UTSW |
4 |
144,447,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7021:AAdacl4fm3
|
UTSW |
4 |
144,442,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:AAdacl4fm3
|
UTSW |
4 |
144,430,173 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7514:AAdacl4fm3
|
UTSW |
4 |
144,429,798 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7773:AAdacl4fm3
|
UTSW |
4 |
144,430,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7791:AAdacl4fm3
|
UTSW |
4 |
144,430,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:AAdacl4fm3
|
UTSW |
4 |
144,429,972 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8082:AAdacl4fm3
|
UTSW |
4 |
144,441,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:AAdacl4fm3
|
UTSW |
4 |
144,442,011 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9721:AAdacl4fm3
|
UTSW |
4 |
144,429,942 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:AAdacl4fm3
|
UTSW |
4 |
144,429,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:AAdacl4fm3
|
UTSW |
4 |
144,430,216 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGATCTATGCAGGCTTTTGC -3'
(R):5'- GTCATCTTCCCACCCGAAAG -3'
Sequencing Primer
(F):5'- CTATGCAGGCTTTTGCTATTTTTCAG -3'
(R):5'- ACTTAAGAGCTTGTCACTAGCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation