Incidental Mutation 'R3117:Hacd3'
| ID |
263097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hacd3
|
| Ensembl Gene |
ENSMUSG00000033629 |
| Gene Name |
3-hydroxyacyl-CoA dehydratase 3 |
| Synonyms |
B-ind1, Ptplad1, Hspc121 |
| MMRRC Submission |
040590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R3117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64894265-64928975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 64905591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 182
(D182E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036615]
|
| AlphaFold |
Q8K2C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036615
AA Change: D182E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044955
Gene: ENSMUSG00000033629
AA Change: D182E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CS
|
8 |
84 |
2.3e-7 |
PFAM |
|
low complexity region
|
119 |
136 |
N/A |
INTRINSIC |
|
transmembrane domain
|
153 |
175 |
N/A |
INTRINSIC |
|
Pfam:PTPLA
|
195 |
356 |
1.5e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,804,937 (GRCm39) |
S143G |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,971 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
C |
13: 98,913,946 (GRCm39) |
I217S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,095 (GRCm39) |
S42P |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Hsfy2 |
C |
G |
1: 56,676,265 (GRCm39) |
D91H |
probably damaging |
Het |
| Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Mlc1 |
T |
C |
15: 88,860,731 (GRCm39) |
D93G |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,173,476 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
T |
C |
17: 74,743,063 (GRCm39) |
I852V |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,377,089 (GRCm39) |
C272Y |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,237 (GRCm39) |
I135F |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,768 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
A |
G |
10: 62,890,215 (GRCm39) |
T208A |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,243,422 (GRCm39) |
R1142Q |
possibly damaging |
Het |
| Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
possibly damaging |
Het |
|
| Other mutations in Hacd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Hacd3
|
APN |
9 |
64,911,535 (GRCm39) |
splice site |
probably benign |
|
|
IGL01323:Hacd3
|
APN |
9 |
64,905,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Hacd3
|
APN |
9 |
64,897,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0145:Hacd3
|
UTSW |
9 |
64,911,524 (GRCm39) |
splice site |
probably benign |
|
|
R0390:Hacd3
|
UTSW |
9 |
64,908,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2403:Hacd3
|
UTSW |
9 |
64,908,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3740:Hacd3
|
UTSW |
9 |
64,928,755 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4972:Hacd3
|
UTSW |
9 |
64,897,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6174:Hacd3
|
UTSW |
9 |
64,912,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Hacd3
|
UTSW |
9 |
64,905,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Hacd3
|
UTSW |
9 |
64,908,286 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTACATGCTGAAATGAAATAGTG -3'
(R):5'- ATCCTGGGAGTTCTGAAGCC -3'
Sequencing Primer
(F):5'- CATGCTGAAATGAAATAGTGTTAGCC -3'
(R):5'- GGAGTTCTGAAGCCTGTCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation