Incidental Mutation 'R2334:Aadacl4fm1'
| ID |
246520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4fm1
|
| Ensembl Gene |
ENSMUSG00000028593 |
| Gene Name |
AADACL4 family member 1 |
| Synonyms |
9430007A20Rik, LOC381572 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144246392-144255923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144255429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 283
(K283R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030328]
|
| AlphaFold |
Q8BM81 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030328
AA Change: K283R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: K283R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
115 |
286 |
6.2e-32 |
PFAM |
|
Pfam:Abhydrolase_3
|
273 |
381 |
7.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120637
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam20 |
T |
C |
7: 19,705,516 (GRCm39) |
F169S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,799,855 (GRCm39) |
Q556R |
probably damaging |
Het |
| Cpa5 |
G |
A |
6: 30,624,605 (GRCm39) |
W148* |
probably null |
Het |
| Cryz |
C |
T |
3: 154,327,828 (GRCm39) |
A310V |
probably benign |
Het |
| Dlk1 |
T |
C |
12: 109,419,614 (GRCm39) |
V10A |
probably damaging |
Het |
| Fbxw16 |
T |
G |
9: 109,267,429 (GRCm39) |
L267F |
probably benign |
Het |
| Frmpd1 |
T |
C |
4: 45,285,408 (GRCm39) |
S1410P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,261 (GRCm39) |
I982F |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,256 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
A |
12: 85,314,851 (GRCm39) |
D445V |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,501,825 (GRCm39) |
N129K |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,340,534 (GRCm39) |
E93D |
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,895,608 (GRCm39) |
Y163* |
probably null |
Het |
| Or2ak5 |
A |
T |
11: 58,611,288 (GRCm39) |
Y195* |
probably null |
Het |
| Or5p59 |
C |
T |
7: 107,702,555 (GRCm39) |
T13I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,229,644 (GRCm39) |
S1005P |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,150 (GRCm39) |
P258S |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,556,138 (GRCm39) |
E21962G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,087,202 (GRCm39) |
D1515G |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,800 (GRCm39) |
N559S |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,032 (GRCm39) |
I158K |
probably benign |
Het |
|
| Other mutations in Aadacl4fm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01469:Aadacl4fm1
|
APN |
4 |
144,255,192 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01866:Aadacl4fm1
|
APN |
4 |
144,255,119 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02736:Aadacl4fm1
|
APN |
4 |
144,255,207 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02928:Aadacl4fm1
|
APN |
4 |
144,255,802 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03236:Aadacl4fm1
|
APN |
4 |
144,246,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:Aadacl4fm1
|
UTSW |
4 |
144,255,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0023:Aadacl4fm1
|
UTSW |
4 |
144,255,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Aadacl4fm1
|
UTSW |
4 |
144,246,619 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0320:Aadacl4fm1
|
UTSW |
4 |
144,248,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0987:Aadacl4fm1
|
UTSW |
4 |
144,246,502 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1124:Aadacl4fm1
|
UTSW |
4 |
144,255,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1202:Aadacl4fm1
|
UTSW |
4 |
144,250,236 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1708:Aadacl4fm1
|
UTSW |
4 |
144,246,511 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2238:Aadacl4fm1
|
UTSW |
4 |
144,246,469 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2351:Aadacl4fm1
|
UTSW |
4 |
144,255,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Aadacl4fm1
|
UTSW |
4 |
144,255,381 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5153:Aadacl4fm1
|
UTSW |
4 |
144,248,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6312:Aadacl4fm1
|
UTSW |
4 |
144,255,072 (GRCm39) |
missense |
probably benign |
|
|
R6379:Aadacl4fm1
|
UTSW |
4 |
144,248,912 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7555:Aadacl4fm1
|
UTSW |
4 |
144,248,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8077:Aadacl4fm1
|
UTSW |
4 |
144,255,126 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9712:Aadacl4fm1
|
UTSW |
4 |
144,255,354 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1088:Aadacl4fm1
|
UTSW |
4 |
144,255,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Aadacl4fm1
|
UTSW |
4 |
144,255,282 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Aadacl4fm1
|
UTSW |
4 |
144,255,070 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCAGGTCCTGATTTATCC -3'
(R):5'- CGGATAATGTCCCAGTGAAGGC -3'
Sequencing Primer
(F):5'- AGGTCCTGATTTATCCAATTCTGCAG -3'
(R):5'- GGCTCACTAAGAATGCCTCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation