Incidental Mutation 'R3789:Hdhd2'
| ID |
272462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdhd2
|
| Ensembl Gene |
ENSMUSG00000025421 |
| Gene Name |
haloacid dehalogenase-like hydrolase domain containing 2 |
| Synonyms |
3110052N05Rik, 0610039H12Rik |
| MMRRC Submission |
041604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
77031775-77059867 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 77042883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026485]
[ENSMUST00000097521]
[ENSMUST00000097522]
[ENSMUST00000142456]
[ENSMUST00000143910]
[ENSMUST00000145634]
[ENSMUST00000145634]
[ENSMUST00000147332]
[ENSMUST00000147332]
[ENSMUST00000148955]
[ENSMUST00000148955]
[ENSMUST00000150990]
[ENSMUST00000150990]
[ENSMUST00000156454]
|
| 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 null
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: ENSMUST00000143910
|
| SMART Domains |
Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
116 |
2.5e-22 |
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 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 null
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: 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: 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 |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156454
|
| SMART Domains |
Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
60 |
1.6e-13 |
PFAM |
|
| Meta Mutation Damage Score |
0.9490 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,460,668 (GRCm39) |
I4226N |
probably damaging |
Het |
| Abhd16a |
A |
G |
17: 35,320,563 (GRCm39) |
N411S |
probably damaging |
Het |
| Acvrl1 |
C |
T |
15: 101,035,350 (GRCm39) |
T292M |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,870,588 (GRCm39) |
S688P |
probably damaging |
Het |
| Adprs |
A |
T |
4: 126,210,544 (GRCm39) |
I312N |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,349,492 (GRCm39) |
H619R |
probably benign |
Het |
| Clca4a |
C |
A |
3: 144,680,717 (GRCm39) |
G20V |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,547,005 (GRCm39) |
V2276L |
possibly damaging |
Het |
| Cstdc2 |
C |
A |
2: 148,689,878 (GRCm39) |
E92* |
probably null |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,476,942 (GRCm39) |
|
probably null |
Het |
| Emc8 |
T |
C |
8: 121,384,869 (GRCm39) |
T195A |
probably benign |
Het |
| Frs3 |
G |
A |
17: 48,010,621 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,813,058 (GRCm39) |
S640P |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,955,613 (GRCm39) |
S1310P |
probably damaging |
Het |
| Hltf |
C |
T |
3: 20,123,211 (GRCm39) |
P200S |
probably damaging |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,407,838 (GRCm39) |
D1817G |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,078,956 (GRCm39) |
I253V |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,456,022 (GRCm39) |
T1512A |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,492,113 (GRCm39) |
R403W |
probably damaging |
Het |
| Mms22l |
A |
G |
4: 24,517,115 (GRCm39) |
D222G |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,156 (GRCm39) |
D127E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,730,464 (GRCm39) |
|
probably benign |
Het |
| Plekha7 |
A |
C |
7: 115,774,969 (GRCm39) |
I175R |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,938,355 (GRCm39) |
V1303D |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Rexo2 |
A |
G |
9: 48,384,362 (GRCm39) |
I139T |
probably damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,101,106 (GRCm39) |
S811R |
probably benign |
Het |
| Sec24b |
T |
C |
3: 129,814,276 (GRCm39) |
D345G |
probably benign |
Het |
| Serpina1b |
A |
G |
12: 103,695,531 (GRCm39) |
S337P |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,827,617 (GRCm39) |
S134P |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,825,844 (GRCm39) |
E539G |
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,387,150 (GRCm39) |
T212A |
possibly damaging |
Het |
| Spa17 |
T |
G |
9: 37,523,141 (GRCm39) |
K49Q |
possibly damaging |
Het |
| St3gal6 |
C |
T |
16: 58,305,136 (GRCm39) |
E109K |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,050,955 (GRCm39) |
N5D |
probably benign |
Het |
| Tmem232 |
C |
T |
17: 65,689,520 (GRCm39) |
D532N |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,689,628 (GRCm39) |
D496Y |
possibly damaging |
Het |
| Tmem81 |
A |
G |
1: 132,435,809 (GRCm39) |
N205S |
probably benign |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,348 (GRCm39) |
N567I |
probably damaging |
Het |
|
| Other mutations in Hdhd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Hdhd2
|
APN |
18 |
77,052,969 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCACTTCTGTGATGGTTC -3'
(R):5'- GCAGCAACTAATGTGGTCGAG -3'
Sequencing Primer
(F):5'- GTTTGTGACCAATACAACCAAAGAG -3'
(R):5'- GCTGACCGACCAAGTGTTAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation