Incidental Mutation 'IGL01102:Hdhd2'
| ID |
53174 |
| 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 # |
IGL01102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
77031775-77059867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77044607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 128
(N128S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026485]
[ENSMUST00000097521]
[ENSMUST00000097522]
[ENSMUST00000142456]
[ENSMUST00000143910]
[ENSMUST00000145634]
[ENSMUST00000147332]
[ENSMUST00000150990]
[ENSMUST00000148955]
[ENSMUST00000156454]
|
| AlphaFold |
Q3UGR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026485
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421
AA Change: N128S
| 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 damaging
Transcript: ENSMUST00000097521
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421
AA Change: N128S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
123 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097522
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421
AA Change: N128S
| 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 benign
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 damaging
Transcript: ENSMUST00000145634
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421
AA Change: N128S
| 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 damaging
Transcript: ENSMUST00000147332
AA Change: N128S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421
AA Change: N128S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_6
|
10 |
123 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150990
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421
AA Change: N128S
| 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 damaging
Transcript: ENSMUST00000148955
AA Change: N128S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421
AA Change: N128S
| 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 |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,968 (GRCm39) |
|
probably benign |
Het |
| Bloc1s2-ps |
C |
T |
2: 52,509,914 (GRCm39) |
A50V |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,627,240 (GRCm39) |
L435P |
probably benign |
Het |
| Col4a3 |
A |
G |
1: 82,647,441 (GRCm39) |
D455G |
unknown |
Het |
| Col4a3 |
A |
G |
1: 82,647,976 (GRCm39) |
I496V |
unknown |
Het |
| Coro1c |
A |
T |
5: 113,987,675 (GRCm39) |
M222K |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,410,149 (GRCm39) |
|
probably null |
Het |
| Emc4 |
C |
A |
2: 112,197,871 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,842 (GRCm39) |
D32G |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,572,808 (GRCm39) |
|
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,896,828 (GRCm39) |
K559E |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,466,381 (GRCm39) |
L452P |
probably damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,124 (GRCm39) |
V323A |
probably damaging |
Het |
| Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,841,755 (GRCm39) |
V220A |
probably benign |
Het |
| Hdac6 |
A |
G |
X: 7,813,237 (GRCm39) |
S42P |
probably benign |
Het |
| Hsd3b2 |
G |
T |
3: 98,618,995 (GRCm39) |
R317S |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,909 (GRCm39) |
I474F |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,255,102 (GRCm39) |
Y954C |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,679,445 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
| Mblac2 |
T |
C |
13: 81,898,125 (GRCm39) |
M167T |
probably damaging |
Het |
| Mterf4 |
C |
T |
1: 93,232,812 (GRCm39) |
R13H |
possibly damaging |
Het |
| Npffr1 |
T |
G |
10: 61,449,987 (GRCm39) |
V87G |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,848,192 (GRCm39) |
P26L |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,497 (GRCm39) |
I37V |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,645,423 (GRCm39) |
L386P |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,653 (GRCm39) |
I708T |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,090,195 (GRCm39) |
I412V |
probably benign |
Het |
| Ramp2 |
T |
A |
11: 101,138,453 (GRCm39) |
Y85N |
probably benign |
Het |
| Rnf217 |
A |
G |
10: 31,484,499 (GRCm39) |
Y228H |
probably damaging |
Het |
| Rock1 |
T |
G |
18: 10,080,502 (GRCm39) |
D1014A |
probably benign |
Het |
| Scyl3 |
T |
A |
1: 163,762,338 (GRCm39) |
C101* |
probably null |
Het |
| Sema6b |
G |
T |
17: 56,439,761 (GRCm39) |
L27I |
possibly damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,400,369 (GRCm39) |
V97A |
probably benign |
Het |
| Strc |
C |
A |
2: 121,195,541 (GRCm39) |
R1636L |
probably benign |
Het |
| Tm9sf1 |
T |
A |
14: 55,880,224 (GRCm39) |
T58S |
probably damaging |
Het |
| Tmem106c |
T |
C |
15: 97,864,825 (GRCm39) |
Y85H |
probably damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,990,811 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,628,781 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
T |
7: 42,263,333 (GRCm39) |
L168* |
probably null |
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 |
|
|
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