Incidental Mutation 'R6435:Hsdl2'
ID |
518738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsdl2
|
Ensembl Gene |
ENSMUSG00000028383 |
Gene Name |
hydroxysteroid dehydrogenase like 2 |
Synonyms |
2610207I16Rik |
MMRRC Submission |
044573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6435 (G1)
|
Quality Score |
150.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59610668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 222
(Q222K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030078]
[ENSMUST00000107528]
|
AlphaFold |
Q2TPA8 |
Predicted Effect |
unknown
Transcript: ENSMUST00000030078
AA Change: Q342K
|
SMART Domains |
Protein: ENSMUSP00000030078 Gene: ENSMUSG00000028383 AA Change: Q342K
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 |
unknown
Transcript: ENSMUST00000107528
AA Change: Q222K
|
SMART Domains |
Protein: ENSMUSP00000103152 Gene: ENSMUSG00000028383 AA Change: Q222K
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
T |
2: 31,691,561 (GRCm39) |
T1027S |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,049,787 (GRCm39) |
I159V |
possibly damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,367 (GRCm39) |
N886S |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,266,799 (GRCm39) |
D1203N |
probably damaging |
Het |
Chmp2a |
A |
T |
7: 12,766,701 (GRCm39) |
Y72* |
probably null |
Het |
Col6a1 |
A |
T |
10: 76,546,957 (GRCm39) |
I755N |
unknown |
Het |
Defa24 |
T |
A |
8: 22,224,690 (GRCm39) |
F46L |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,749,081 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,726,478 (GRCm39) |
S628G |
probably benign |
Het |
Ighv1-9 |
T |
A |
12: 114,547,206 (GRCm39) |
I111F |
probably benign |
Het |
Itch |
G |
A |
2: 155,051,049 (GRCm39) |
D579N |
probably benign |
Het |
Jdp2 |
A |
T |
12: 85,655,132 (GRCm39) |
K65M |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,815,556 (GRCm39) |
E222V |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,652,871 (GRCm39) |
V42A |
probably damaging |
Het |
Mecom |
T |
A |
3: 30,034,398 (GRCm39) |
E426V |
probably damaging |
Het |
Meiosin |
T |
C |
7: 18,834,844 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
G |
T |
1: 52,748,603 (GRCm39) |
Y87* |
probably null |
Het |
Mybpc2 |
A |
G |
7: 44,155,481 (GRCm39) |
V924A |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,431,249 (GRCm39) |
M1196K |
probably benign |
Het |
Nscme3l |
T |
C |
19: 5,553,446 (GRCm39) |
I112V |
probably benign |
Het |
Or52n5 |
A |
G |
7: 104,588,041 (GRCm39) |
M103V |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,280 (GRCm39) |
P297S |
probably benign |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Rgs21 |
A |
G |
1: 144,395,565 (GRCm39) |
F108L |
probably damaging |
Het |
Runx1 |
A |
T |
16: 92,441,183 (GRCm39) |
S209T |
possibly damaging |
Het |
Sdccag8 |
G |
T |
1: 176,642,428 (GRCm39) |
|
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tsc1 |
G |
A |
2: 28,566,464 (GRCm39) |
V627M |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,815,952 (GRCm39) |
I347M |
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 |
IGL00857:Hsdl2
|
APN |
4 |
59,617,735 (GRCm39) |
missense |
probably benign |
0.29 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTTATACTGCCAAAACTTTAAGGC -3'
(R):5'- CTGAGAGTTCAAACTGATAGACAGC -3'
Sequencing Primer
(F):5'- CTGCCAAAACTTTAAGGCTCTTTATG -3'
(R):5'- GACAGCTTGTGTCGCTCTAACAAC -3'
|
Posted On |
2018-05-24 |