Incidental Mutation 'R1124:Aadacl4fm4'
| ID |
95944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4fm4
|
| Ensembl Gene |
ENSMUSG00000078505 |
| Gene Name |
AADACL4 family member 4 |
| Synonyms |
Gm436, LOC230890 |
| MMRRC Submission |
039197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R1124 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144396507-144412938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144396845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 296
(S296G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105747]
|
| AlphaFold |
B1AVU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105747
AA Change: S296G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101373
Gene: ENSMUSG00000078505
AA Change: S296G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_3
|
115 |
285 |
1.6e-29 |
PFAM |
|
Pfam:Abhydrolase_3
|
292 |
381 |
9e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
| Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
| Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
| Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
| Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
| Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
| Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
| Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
Het |
|
| Other mutations in Aadacl4fm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Aadacl4fm4
|
APN |
4 |
144,400,349 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01369:Aadacl4fm4
|
APN |
4 |
144,401,215 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01503:Aadacl4fm4
|
APN |
4 |
144,401,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01505:Aadacl4fm4
|
APN |
4 |
144,401,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01954:Aadacl4fm4
|
APN |
4 |
144,396,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Aadacl4fm4
|
APN |
4 |
144,401,269 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02804:Aadacl4fm4
|
APN |
4 |
144,397,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0373:Aadacl4fm4
|
UTSW |
4 |
144,412,790 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1598:Aadacl4fm4
|
UTSW |
4 |
144,396,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1734:Aadacl4fm4
|
UTSW |
4 |
144,396,596 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1763:Aadacl4fm4
|
UTSW |
4 |
144,396,529 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1968:Aadacl4fm4
|
UTSW |
4 |
144,397,193 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3055:Aadacl4fm4
|
UTSW |
4 |
144,401,268 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3056:Aadacl4fm4
|
UTSW |
4 |
144,401,268 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3930:Aadacl4fm4
|
UTSW |
4 |
144,396,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Aadacl4fm4
|
UTSW |
4 |
144,401,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Aadacl4fm4
|
UTSW |
4 |
144,396,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6302:Aadacl4fm4
|
UTSW |
4 |
144,396,760 (GRCm39) |
nonsense |
probably null |
|
|
R6814:Aadacl4fm4
|
UTSW |
4 |
144,397,216 (GRCm39) |
nonsense |
probably null |
|
|
R6872:Aadacl4fm4
|
UTSW |
4 |
144,397,216 (GRCm39) |
nonsense |
probably null |
|
|
R6988:Aadacl4fm4
|
UTSW |
4 |
144,412,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7131:Aadacl4fm4
|
UTSW |
4 |
144,396,637 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7895:Aadacl4fm4
|
UTSW |
4 |
144,396,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8108:Aadacl4fm4
|
UTSW |
4 |
144,397,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8378:Aadacl4fm4
|
UTSW |
4 |
144,397,169 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8676:Aadacl4fm4
|
UTSW |
4 |
144,396,683 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8817:Aadacl4fm4
|
UTSW |
4 |
144,400,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Aadacl4fm4
|
UTSW |
4 |
144,401,256 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9640:Aadacl4fm4
|
UTSW |
4 |
144,412,809 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACAGCTCACTAGGAATGCCTC -3'
(R):5'- AAGCATCATCACCCTGCTGCTC -3'
Sequencing Primer
(F):5'- CTCACTAGGAATGCCTCAGGAAG -3'
(R):5'- TTTCTGAAGGCCCTGGAAAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation