Incidental Mutation 'IGL01063:Hdhd2'
| ID |
53145 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdhd2
|
| Ensembl Gene |
ENSMUSG00000025421 |
| Gene Name |
haloacid dehalogenase-like hydrolase domain containing 2 |
| Synonyms |
3110052N05Rik, 0610039H12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77031775-77059867 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 77052969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026485]
[ENSMUST00000097521]
[ENSMUST00000097522]
[ENSMUST00000142456]
[ENSMUST00000145634]
[ENSMUST00000147332]
[ENSMUST00000148955]
[ENSMUST00000150990]
|
| AlphaFold |
Q3UGR5 |
| PDB Structure |
Crystal Structure of Protein from Mouse Mm.236127 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026485
|
| SMART Domains |
Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.1e-21 |
PFAM |
|
Pfam:HAD_2
|
167 |
223 |
1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
3.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097521
|
| SMART Domains |
Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
123 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097522
|
| SMART Domains |
Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142456
|
| SMART Domains |
Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Yos1
|
5 |
66 |
4.8e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145634
|
| SMART Domains |
Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147332
|
| SMART Domains |
Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
123 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148955
|
| SMART Domains |
Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150990
|
| SMART Domains |
Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
193 |
1.4e-21 |
PFAM |
|
Pfam:HAD_2
|
161 |
223 |
1.1e-7 |
PFAM |
|
Pfam:Hydrolase_like
|
176 |
251 |
1.3e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transposon insertion results in complete embryonic lethality at E7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
| Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
| Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
| Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
| Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
| Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
| Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
| Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
| Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
| Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
| Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,751,582 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
A |
G |
6: 39,142,064 (GRCm39) |
F405L |
probably damaging |
Het |
| Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
| Mtmr14 |
T |
A |
6: 113,243,287 (GRCm39) |
F40I |
probably damaging |
Het |
| Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
| Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
| Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
| Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
| Ppargc1a |
C |
A |
5: 51,631,664 (GRCm39) |
V322L |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
| Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
| Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
| Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
| Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,013,038 (GRCm39) |
D311E |
probably benign |
Het |
| Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
| Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
| Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
probably damaging |
Het |
|
| Other mutations in Hdhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01102:Hdhd2
|
APN |
18 |
77,044,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Hdhd2
|
UTSW |
18 |
77,058,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0021:Hdhd2
|
UTSW |
18 |
77,058,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Hdhd2
|
UTSW |
18 |
77,038,900 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1958:Hdhd2
|
UTSW |
18 |
77,052,841 (GRCm39) |
missense |
probably benign |
|
|
R2060:Hdhd2
|
UTSW |
18 |
77,052,738 (GRCm39) |
splice site |
probably null |
|
|
R2266:Hdhd2
|
UTSW |
18 |
77,052,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2268:Hdhd2
|
UTSW |
18 |
77,052,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2269:Hdhd2
|
UTSW |
18 |
77,052,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2871:Hdhd2
|
UTSW |
18 |
77,042,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Hdhd2
|
UTSW |
18 |
77,042,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Hdhd2
|
UTSW |
18 |
77,042,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Hdhd2
|
UTSW |
18 |
77,042,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2873:Hdhd2
|
UTSW |
18 |
77,042,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Hdhd2
|
UTSW |
18 |
77,042,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3789:Hdhd2
|
UTSW |
18 |
77,042,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5784:Hdhd2
|
UTSW |
18 |
77,054,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Hdhd2
|
UTSW |
18 |
77,042,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Hdhd2
|
UTSW |
18 |
77,031,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7644:Hdhd2
|
UTSW |
18 |
77,031,871 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7849:Hdhd2
|
UTSW |
18 |
77,052,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Hdhd2
|
UTSW |
18 |
77,058,366 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2013-06-21 |
Incidental Mutation