Incidental Mutation 'R6664:Aadacl4fm5'
| ID |
526899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4fm5
|
| Ensembl Gene |
ENSMUSG00000078504 |
| Gene Name |
AADACL4 family member 5 |
| Synonyms |
Gm438, LOC329993 |
| MMRRC Submission |
044784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6664 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144503774-144513153 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 144503969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 394
(*394W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105746]
|
| AlphaFold |
B1ASB3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105746
AA Change: *394W
|
| SMART Domains |
Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: *394W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
3 |
25 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
111 |
270 |
4.9e-22 |
PFAM |
|
Pfam:Abhydrolase_3
|
284 |
366 |
1.3e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AU040320 |
A |
T |
4: 126,729,443 (GRCm39) |
Y535F |
probably damaging |
Het |
| Auh |
G |
C |
13: 53,052,703 (GRCm39) |
S138W |
probably damaging |
Het |
| Bmp2k |
A |
T |
5: 97,235,989 (GRCm39) |
K1137N |
probably benign |
Het |
| Btn1a1 |
A |
G |
13: 23,643,490 (GRCm39) |
Y320H |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,315,966 (GRCm39) |
Q479* |
probably null |
Het |
| Cyp4f18 |
A |
T |
8: 72,743,759 (GRCm39) |
S399T |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 38,982,283 (GRCm39) |
L83P |
probably damaging |
Het |
| Fbxo45 |
T |
C |
16: 32,057,234 (GRCm39) |
N220S |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,267,326 (GRCm39) |
M302V |
probably benign |
Het |
| Fgb |
A |
T |
3: 82,954,066 (GRCm39) |
S57R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,289,824 (GRCm39) |
V134A |
probably damaging |
Het |
| Gatad2a |
A |
G |
8: 70,370,139 (GRCm39) |
L189P |
probably damaging |
Het |
| Ifitm7 |
T |
C |
16: 13,801,613 (GRCm39) |
T49A |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,655,393 (GRCm39) |
T601A |
probably damaging |
Het |
| Jmjd4 |
T |
C |
11: 59,341,245 (GRCm39) |
F59L |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,907,395 (GRCm39) |
S1323L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,668,610 (GRCm39) |
E732G |
probably benign |
Het |
| Nr4a3 |
G |
A |
4: 48,056,006 (GRCm39) |
R344Q |
probably damaging |
Het |
| Or1j12 |
A |
G |
2: 36,343,110 (GRCm39) |
N171S |
probably benign |
Het |
| Or52e5 |
T |
A |
7: 104,719,395 (GRCm39) |
S240R |
possibly damaging |
Het |
| Pik3cb |
T |
C |
9: 98,976,591 (GRCm39) |
T169A |
possibly damaging |
Het |
| Prl3a1 |
C |
A |
13: 27,454,194 (GRCm39) |
Y57* |
probably null |
Het |
| Ripor2 |
A |
T |
13: 24,859,803 (GRCm39) |
I164F |
probably damaging |
Het |
| Sik2 |
T |
C |
9: 50,846,757 (GRCm39) |
E146G |
probably damaging |
Het |
| Szt2 |
G |
A |
4: 118,248,942 (GRCm39) |
R581C |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,746 (GRCm39) |
D747E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp945 |
A |
G |
17: 23,071,339 (GRCm39) |
S187P |
probably damaging |
Het |
|
| Other mutations in Aadacl4fm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Aadacl4fm5
|
APN |
4 |
144,504,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01293:Aadacl4fm5
|
APN |
4 |
144,504,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01678:Aadacl4fm5
|
APN |
4 |
144,504,443 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02609:Aadacl4fm5
|
APN |
4 |
144,506,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Aadacl4fm5
|
APN |
4 |
144,504,755 (GRCm39) |
splice site |
probably benign |
|
|
IGL02734:Aadacl4fm5
|
APN |
4 |
144,506,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Aadacl4fm5
|
APN |
4 |
144,512,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02988:Aadacl4fm5
|
APN |
4 |
144,513,100 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0553:Aadacl4fm5
|
UTSW |
4 |
144,503,985 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1514:Aadacl4fm5
|
UTSW |
4 |
144,504,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Aadacl4fm5
|
UTSW |
4 |
144,504,453 (GRCm39) |
missense |
probably benign |
|
|
R1957:Aadacl4fm5
|
UTSW |
4 |
144,504,389 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2014:Aadacl4fm5
|
UTSW |
4 |
144,506,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Aadacl4fm5
|
UTSW |
4 |
144,503,991 (GRCm39) |
missense |
probably benign |
|
|
R4943:Aadacl4fm5
|
UTSW |
4 |
144,504,290 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5439:Aadacl4fm5
|
UTSW |
4 |
144,504,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Aadacl4fm5
|
UTSW |
4 |
144,504,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6414:Aadacl4fm5
|
UTSW |
4 |
144,503,985 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6869:Aadacl4fm5
|
UTSW |
4 |
144,507,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7384:Aadacl4fm5
|
UTSW |
4 |
144,507,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7439:Aadacl4fm5
|
UTSW |
4 |
144,504,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Aadacl4fm5
|
UTSW |
4 |
144,504,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9284:Aadacl4fm5
|
UTSW |
4 |
144,504,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACTGTATTTGTGGTATAAGAGAG -3'
(R):5'- GACATTCCTGGTGAGCTGTG -3'
Sequencing Primer
(F):5'- GAACACAAATTTGACTTATTGAGCAG -3'
(R):5'- ACATGATGTTCTCCGAGATGATGCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation