Incidental Mutation 'IGL00857:Hsdl2'
| ID |
11362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hsdl2
|
| Ensembl Gene |
ENSMUSG00000028383 |
| Gene Name |
hydroxysteroid dehydrogenase like 2 |
| Synonyms |
2610207I16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00857
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59617735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 487
(N487K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030078]
[ENSMUST00000107528]
|
| AlphaFold |
Q2TPA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030078
AA Change: N487K
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: N487K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
11 |
142 |
6.3e-7 |
PFAM |
|
Pfam:adh_short
|
11 |
209 |
2.9e-37 |
PFAM |
|
Pfam:adh_short_C2
|
17 |
217 |
3.3e-11 |
PFAM |
|
low complexity region
|
295 |
367 |
N/A |
INTRINSIC |
|
Pfam:SCP2
|
382 |
484 |
4.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107528
AA Change: N367K
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: N367K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3KVO|B
|
1 |
174 |
1e-98 |
PDB |
|
low complexity region
|
175 |
247 |
N/A |
INTRINSIC |
|
Pfam:SCP2
|
262 |
364 |
2.5e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,454,205 (GRCm39) |
T181A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 30,072,638 (GRCm39) |
N112K |
possibly damaging |
Het |
| Cd164 |
A |
G |
10: 41,404,691 (GRCm39) |
T150A |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,470,120 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
A |
6: 47,026,358 (GRCm39) |
N61K |
probably benign |
Het |
| Cstdc1 |
A |
G |
2: 148,624,170 (GRCm39) |
D48G |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,631 (GRCm39) |
I393V |
probably benign |
Het |
| Dcaf11 |
A |
T |
14: 55,798,742 (GRCm39) |
|
probably benign |
Het |
| Defb7 |
G |
A |
8: 19,547,594 (GRCm39) |
R33Q |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,283,604 (GRCm39) |
Y2743C |
probably benign |
Het |
| Enpp2 |
A |
G |
15: 54,739,046 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,465 (GRCm39) |
E576D |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,033,145 (GRCm39) |
N123K |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,893,795 (GRCm39) |
D233G |
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,859 (GRCm39) |
E362V |
possibly damaging |
Het |
| Hspa14 |
T |
C |
2: 3,503,796 (GRCm39) |
Y83C |
probably damaging |
Het |
| Itm2b |
T |
C |
14: 73,602,056 (GRCm39) |
N214S |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,069,662 (GRCm39) |
V726D |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,927 (GRCm39) |
|
probably null |
Het |
| Nrdc |
A |
T |
4: 108,911,199 (GRCm39) |
I774F |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,744,627 (GRCm39) |
I626V |
probably benign |
Het |
| Prkab2 |
C |
T |
3: 97,569,659 (GRCm39) |
A75V |
possibly damaging |
Het |
| Sdr9c7 |
A |
G |
10: 127,734,728 (GRCm39) |
Q72R |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,066,803 (GRCm39) |
Y279D |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,308 (GRCm39) |
T577S |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,174 (GRCm39) |
L533F |
probably damaging |
Het |
| Tent5a |
C |
A |
9: 85,206,806 (GRCm39) |
V331L |
possibly damaging |
Het |
| Tmeff1 |
T |
C |
4: 48,610,435 (GRCm39) |
V102A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,583,099 (GRCm39) |
T22598I |
probably damaging |
Het |
| Ube4a |
C |
A |
9: 44,843,684 (GRCm39) |
G977W |
probably damaging |
Het |
|
| Other mutations in Hsdl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Hsdl2
|
APN |
4 |
59,596,892 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01859:Hsdl2
|
APN |
4 |
59,601,569 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02822:Hsdl2
|
APN |
4 |
59,601,379 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03028:Hsdl2
|
APN |
4 |
59,594,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03275:Hsdl2
|
APN |
4 |
59,617,747 (GRCm39) |
makesense |
probably null |
|
|
R0217:Hsdl2
|
UTSW |
4 |
59,597,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Hsdl2
|
UTSW |
4 |
59,601,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0448:Hsdl2
|
UTSW |
4 |
59,606,523 (GRCm39) |
missense |
unknown |
|
|
R0490:Hsdl2
|
UTSW |
4 |
59,612,814 (GRCm39) |
splice site |
probably benign |
|
|
R1353:Hsdl2
|
UTSW |
4 |
59,596,971 (GRCm39) |
splice site |
probably null |
|
|
R1668:Hsdl2
|
UTSW |
4 |
59,612,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3933:Hsdl2
|
UTSW |
4 |
59,597,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4088:Hsdl2
|
UTSW |
4 |
59,610,636 (GRCm39) |
missense |
unknown |
|
|
R4247:Hsdl2
|
UTSW |
4 |
59,594,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Hsdl2
|
UTSW |
4 |
59,617,692 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4723:Hsdl2
|
UTSW |
4 |
59,593,270 (GRCm39) |
unclassified |
probably benign |
|
|
R4858:Hsdl2
|
UTSW |
4 |
59,612,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5361:Hsdl2
|
UTSW |
4 |
59,592,301 (GRCm39) |
unclassified |
probably benign |
|
|
R6435:Hsdl2
|
UTSW |
4 |
59,610,668 (GRCm39) |
missense |
unknown |
|
|
R6525:Hsdl2
|
UTSW |
4 |
59,612,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6536:Hsdl2
|
UTSW |
4 |
59,610,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7156:Hsdl2
|
UTSW |
4 |
59,617,653 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7740:Hsdl2
|
UTSW |
4 |
59,612,724 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8087:Hsdl2
|
UTSW |
4 |
59,592,228 (GRCm39) |
missense |
unknown |
|
|
R8434:Hsdl2
|
UTSW |
4 |
59,610,621 (GRCm39) |
missense |
unknown |
|
|
R9512:Hsdl2
|
UTSW |
4 |
59,594,464 (GRCm39) |
nonsense |
probably null |
|
|
RF005:Hsdl2
|
UTSW |
4 |
59,610,652 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Hsdl2
|
UTSW |
4 |
59,610,657 (GRCm39) |
small insertion |
probably benign |
|
|
RF015:Hsdl2
|
UTSW |
4 |
59,610,640 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:Hsdl2
|
UTSW |
4 |
59,610,643 (GRCm39) |
small insertion |
probably benign |
|
|
RF020:Hsdl2
|
UTSW |
4 |
59,610,640 (GRCm39) |
small insertion |
probably benign |
|
|
RF023:Hsdl2
|
UTSW |
4 |
59,610,644 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Hsdl2
|
UTSW |
4 |
59,610,637 (GRCm39) |
small insertion |
probably benign |
|
|
RF026:Hsdl2
|
UTSW |
4 |
59,610,655 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Hsdl2
|
UTSW |
4 |
59,610,650 (GRCm39) |
nonsense |
probably null |
|
|
RF030:Hsdl2
|
UTSW |
4 |
59,610,647 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Hsdl2
|
UTSW |
4 |
59,610,648 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Hsdl2
|
UTSW |
4 |
59,610,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Hsdl2
|
UTSW |
4 |
59,610,633 (GRCm39) |
small insertion |
probably benign |
|
|
RF051:Hsdl2
|
UTSW |
4 |
59,610,650 (GRCm39) |
small insertion |
probably benign |
|
|
RF051:Hsdl2
|
UTSW |
4 |
59,610,636 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Hsdl2
|
UTSW |
4 |
59,610,647 (GRCm39) |
frame shift |
probably null |
|
|
RF059:Hsdl2
|
UTSW |
4 |
59,610,658 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Hsdl2
|
UTSW |
4 |
59,610,608 (GRCm39) |
small insertion |
probably benign |
|
|
RF061:Hsdl2
|
UTSW |
4 |
59,610,657 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Hsdl2
|
UTSW |
4 |
59,617,706 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation