Incidental Mutation 'R0987:Aadacl4fm1'
| ID |
97266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl4fm1
|
| Ensembl Gene |
ENSMUSG00000028593 |
| Gene Name |
AADACL4 family member 1 |
| Synonyms |
9430007A20Rik, LOC381572 |
| MMRRC Submission |
039107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0987 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
144246392-144255923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 144246502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 16
(V16D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030328]
|
| AlphaFold |
Q8BM81 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030328
AA Change: V16D
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030328
Gene: ENSMUSG00000028593
AA Change: V16D
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacng6 |
C |
T |
7: 3,479,020 (GRCm39) |
T133I |
probably damaging |
Het |
| Car6 |
A |
G |
4: 150,281,800 (GRCm39) |
I71T |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,060 (GRCm39) |
S178T |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,793,599 (GRCm39) |
C1167F |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,340 (GRCm39) |
S234G |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,849 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,649,185 (GRCm39) |
L435P |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,147,555 (GRCm39) |
T698A |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,156 (GRCm39) |
V1407A |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,480,348 (GRCm39) |
D275G |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,041,993 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
G |
A |
4: 133,283,503 (GRCm39) |
V247I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,891 (GRCm39) |
R229C |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,891 (GRCm39) |
C241* |
probably null |
Het |
| Pigf |
A |
G |
17: 87,304,973 (GRCm39) |
L190P |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,652,721 (GRCm39) |
C593* |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,066,875 (GRCm39) |
W2102G |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,333,083 (GRCm39) |
|
probably null |
Het |
| Tmem183a |
A |
T |
1: 134,280,109 (GRCm39) |
F257Y |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,811,071 (GRCm39) |
T410A |
probably benign |
Het |
| Zzef1 |
TGCGTGGGAACCCGC |
TGC |
11: 72,792,159 (GRCm39) |
|
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 |
|
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 |
|
R2334:Aadacl4fm1
|
UTSW |
4 |
144,255,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGGTTTCACTTCTCCTGGCATGAC -3'
(R):5'- TGCGAAACGCTTTCCTCAGACTG -3'
Sequencing Primer
(F):5'- ATGACAGGAGTCTCTCTGAGC -3'
(R):5'- CTGAAGTTCAGTCTATCCTGGCAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation