Incidental Mutation 'R5716:Acad12'
| ID |
451172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad12
|
| Ensembl Gene |
ENSMUSG00000042647 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 12 |
| Synonyms |
9330129D05Rik |
| MMRRC Submission |
043187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121736340-121757001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121748046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041252]
[ENSMUST00000111776]
[ENSMUST00000197916]
|
| AlphaFold |
D3Z7X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041252
AA Change: V124A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
151 |
278 |
7e-16 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
282 |
383 |
1.9e-18 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
395 |
536 |
1.5e-27 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
411 |
526 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111776
AA Change: V124A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647
AA Change: V124A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
151 |
278 |
1.9e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
282 |
336 |
1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131338
|
| SMART Domains |
Protein: ENSMUSP00000121904
Gene: ENSMUSG00000042647
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2WBI|B
|
2 |
92 |
2e-26 |
PDB |
|
SCOP:d1is2a3
|
3 |
58 |
3e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197916
|
| SMART Domains |
Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1j97a_
|
40 |
67 |
1e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
| Brf2 |
A |
G |
8: 27,616,074 (GRCm39) |
S104P |
probably benign |
Het |
| Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
| Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
| Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
| Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
| Kars1 |
T |
A |
8: 112,730,074 (GRCm39) |
|
probably null |
Het |
| Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
| Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
| Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
| Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,118,658 (GRCm39) |
I414V |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,638,828 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
| Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
| Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
Het |
|
| Other mutations in Acad12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00328:Acad12
|
APN |
5 |
121,742,316 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02968:Acad12
|
APN |
5 |
121,748,101 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03046:Acad12
|
UTSW |
5 |
121,748,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0085:Acad12
|
UTSW |
5 |
121,742,357 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0538:Acad12
|
UTSW |
5 |
121,745,511 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1424:Acad12
|
UTSW |
5 |
121,742,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1754:Acad12
|
UTSW |
5 |
121,745,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1975:Acad12
|
UTSW |
5 |
121,742,322 (GRCm39) |
missense |
probably benign |
|
|
R3916:Acad12
|
UTSW |
5 |
121,737,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Acad12
|
UTSW |
5 |
121,737,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4531:Acad12
|
UTSW |
5 |
121,736,964 (GRCm39) |
missense |
probably benign |
|
|
R4531:Acad12
|
UTSW |
5 |
121,736,962 (GRCm39) |
missense |
probably benign |
|
|
R4676:Acad12
|
UTSW |
5 |
121,745,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Acad12
|
UTSW |
5 |
121,748,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5166:Acad12
|
UTSW |
5 |
121,738,083 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5286:Acad12
|
UTSW |
5 |
121,742,358 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5641:Acad12
|
UTSW |
5 |
121,742,084 (GRCm39) |
unclassified |
probably benign |
|
|
R5761:Acad12
|
UTSW |
5 |
121,742,243 (GRCm39) |
unclassified |
probably benign |
|
|
R6006:Acad12
|
UTSW |
5 |
121,737,299 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6256:Acad12
|
UTSW |
5 |
121,752,149 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6729:Acad12
|
UTSW |
5 |
121,745,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Acad12
|
UTSW |
5 |
121,747,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Acad12
|
UTSW |
5 |
121,745,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Acad12
|
UTSW |
5 |
121,745,257 (GRCm39) |
nonsense |
probably null |
|
|
R8383:Acad12
|
UTSW |
5 |
121,745,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Acad12
|
UTSW |
5 |
121,745,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acad12
|
UTSW |
5 |
121,737,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTCTATCAGCGGGGAAG -3'
(R):5'- TCATTCTCCATAGGCCAGGC -3'
Sequencing Primer
(F):5'- GAAGGGCTCCACCTGTTG -3'
(R):5'- CATAGGCCAGGCAAGCTCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation