Incidental Mutation 'R2339:Hacd4'
| ID |
246667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacd4
|
| Ensembl Gene |
ENSMUSG00000028497 |
| Gene Name |
3-hydroxyacyl-CoA dehydratase 4 |
| Synonyms |
Ptplad2, 4933428I03Rik |
| MMRRC Submission |
040325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R2339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
88325924-88357175 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 88341336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030221]
[ENSMUST00000030221]
[ENSMUST00000132493]
[ENSMUST00000132493]
|
| AlphaFold |
A2AKM2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030221
|
| SMART Domains |
Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
65 |
226 |
3.4e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000030221
|
| SMART Domains |
Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
65 |
226 |
3.4e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132493
|
| SMART Domains |
Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
80 |
234 |
1.5e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132493
|
| SMART Domains |
Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
80 |
234 |
1.5e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151280
|
| SMART Domains |
Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
85 |
244 |
3e-37 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151280
|
| SMART Domains |
Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
85 |
244 |
3e-37 |
PFAM |
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
| Cilp2 |
A |
T |
8: 70,335,544 (GRCm39) |
S485T |
probably benign |
Het |
| Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
| Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
| Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
| H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
| Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,543 (GRCm39) |
Y68H |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,239,534 (GRCm39) |
T258I |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
| Pparg |
G |
T |
6: 115,428,005 (GRCm39) |
R164L |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
| Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
| Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
probably benign |
Het |
|
| Other mutations in Hacd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01739:Hacd4
|
APN |
4 |
88,341,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4260001:Hacd4
|
UTSW |
4 |
88,316,343 (GRCm39) |
nonsense |
probably null |
|
|
PIT4260001:Hacd4
|
UTSW |
4 |
88,316,342 (GRCm39) |
missense |
unknown |
|
|
R0597:Hacd4
|
UTSW |
4 |
88,355,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Hacd4
|
UTSW |
4 |
88,353,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1054:Hacd4
|
UTSW |
4 |
88,341,264 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1069:Hacd4
|
UTSW |
4 |
88,355,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1478:Hacd4
|
UTSW |
4 |
88,341,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Hacd4
|
UTSW |
4 |
88,341,303 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3177:Hacd4
|
UTSW |
4 |
88,355,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Hacd4
|
UTSW |
4 |
88,355,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Hacd4
|
UTSW |
4 |
88,355,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Hacd4
|
UTSW |
4 |
88,353,184 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5834:Hacd4
|
UTSW |
4 |
88,316,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Hacd4
|
UTSW |
4 |
88,332,524 (GRCm39) |
missense |
probably benign |
|
|
R7252:Hacd4
|
UTSW |
4 |
88,345,000 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7508:Hacd4
|
UTSW |
4 |
88,355,715 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7857:Hacd4
|
UTSW |
4 |
88,355,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Hacd4
|
UTSW |
4 |
88,353,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Hacd4
|
UTSW |
4 |
88,355,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9162:Hacd4
|
UTSW |
4 |
88,338,017 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0004:Hacd4
|
UTSW |
4 |
88,341,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACCCCACTGAACTTTGC -3'
(R):5'- GGTTTCCTCCTGCAACAATAC -3'
Sequencing Primer
(F):5'- CTGGGAAAGTTAACATCAATAAGCC -3'
(R):5'- AATACACCATTTTAACCCCTGTCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation