Incidental Mutation 'R0490:Hsdl2'
ID |
43431 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsdl2
|
Ensembl Gene |
ENSMUSG00000028383 |
Gene Name |
hydroxysteroid dehydrogenase like 2 |
Synonyms |
2610207I16Rik |
MMRRC Submission |
038688-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0490 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 59612814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030078]
[ENSMUST00000107528]
|
AlphaFold |
Q2TPA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030078
|
SMART Domains |
Protein: ENSMUSP00000030078 Gene: ENSMUSG00000028383
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
|
SMART Domains |
Protein: ENSMUSP00000103152 Gene: ENSMUSG00000028383
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: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,103,338 (GRCm39) |
Y640N |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,849,847 (GRCm39) |
Q402L |
probably benign |
Het |
Als2cl |
A |
G |
9: 110,724,414 (GRCm39) |
T750A |
probably benign |
Het |
Ank1 |
C |
A |
8: 23,597,890 (GRCm39) |
|
probably benign |
Het |
Ap4e1 |
T |
A |
2: 126,888,106 (GRCm39) |
N404K |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,586,190 (GRCm39) |
|
probably benign |
Het |
Bean1 |
A |
T |
8: 104,941,660 (GRCm39) |
T169S |
possibly damaging |
Het |
Bod1l |
G |
T |
5: 41,979,235 (GRCm39) |
T693N |
probably damaging |
Het |
Ccdc81 |
A |
T |
7: 89,536,970 (GRCm39) |
V226D |
probably benign |
Het |
Cd48 |
A |
G |
1: 171,532,445 (GRCm39) |
*241W |
probably null |
Het |
Cdon |
C |
A |
9: 35,363,978 (GRCm39) |
S32Y |
probably damaging |
Het |
Cers3 |
A |
G |
7: 66,423,438 (GRCm39) |
S128G |
possibly damaging |
Het |
Cntn6 |
T |
C |
6: 104,810,879 (GRCm39) |
V641A |
possibly damaging |
Het |
Col6a4 |
G |
A |
9: 105,890,969 (GRCm39) |
T1775I |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,919,393 (GRCm39) |
V1122A |
probably benign |
Het |
Dst |
G |
T |
1: 34,346,449 (GRCm39) |
G5102* |
probably null |
Het |
Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
Epha5 |
G |
T |
5: 84,255,833 (GRCm39) |
|
probably benign |
Het |
Fscb |
G |
A |
12: 64,519,661 (GRCm39) |
P602S |
unknown |
Het |
Fxn |
A |
G |
19: 24,254,543 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,808,291 (GRCm39) |
L254P |
possibly damaging |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Gng8 |
A |
G |
7: 16,628,908 (GRCm39) |
T14A |
probably benign |
Het |
Gsdmc3 |
C |
T |
15: 63,732,099 (GRCm39) |
G309D |
possibly damaging |
Het |
Gsr |
T |
A |
8: 34,161,540 (GRCm39) |
|
probably benign |
Het |
Gtdc1 |
A |
T |
2: 44,525,052 (GRCm39) |
D152E |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,392,281 (GRCm39) |
D4063G |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,021,363 (GRCm39) |
|
probably benign |
Het |
Kcnj10 |
A |
G |
1: 172,197,019 (GRCm39) |
T178A |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,821,962 (GRCm39) |
I2958F |
possibly damaging |
Het |
Lnx1 |
T |
A |
5: 74,781,008 (GRCm39) |
|
probably null |
Het |
Lpl |
A |
G |
8: 69,349,343 (GRCm39) |
R290G |
probably damaging |
Het |
Mamdc4 |
C |
T |
2: 25,453,593 (GRCm39) |
R1196K |
probably benign |
Het |
Mogat2 |
T |
C |
7: 98,872,351 (GRCm39) |
S167G |
probably benign |
Het |
Nek8 |
T |
A |
11: 78,058,555 (GRCm39) |
I582F |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,864 (GRCm39) |
D1237E |
probably damaging |
Het |
Or2y8 |
A |
G |
11: 52,035,493 (GRCm39) |
I288T |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,176 (GRCm39) |
Y279H |
probably damaging |
Het |
Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,219 (GRCm39) |
L245P |
probably damaging |
Het |
Pcdhb8 |
T |
C |
18: 37,489,833 (GRCm39) |
S504P |
probably damaging |
Het |
Pigs |
T |
C |
11: 78,226,451 (GRCm39) |
S223P |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,806,450 (GRCm39) |
I566V |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,495 (GRCm39) |
S549P |
probably damaging |
Het |
Rita1 |
A |
T |
5: 120,749,630 (GRCm39) |
F28I |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 92,026,473 (GRCm39) |
|
probably benign |
Het |
Slc1a1 |
A |
G |
19: 28,874,931 (GRCm39) |
K170E |
probably benign |
Het |
Spag17 |
C |
T |
3: 99,889,727 (GRCm39) |
R199W |
probably damaging |
Het |
Tas2r116 |
T |
C |
6: 132,832,984 (GRCm39) |
V195A |
probably benign |
Het |
Trav7d-3 |
C |
A |
14: 52,982,007 (GRCm39) |
|
probably benign |
Het |
Trim15 |
T |
C |
17: 37,177,247 (GRCm39) |
K138E |
probably benign |
Het |
Ttn |
T |
A |
2: 76,539,174 (GRCm39) |
H34604L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,577,876 (GRCm39) |
R16012K |
probably damaging |
Het |
Zfp948 |
T |
C |
17: 21,808,296 (GRCm39) |
V496A |
probably benign |
Het |
Zfy2 |
A |
T |
Y: 2,106,620 (GRCm39) |
S671R |
possibly damaging |
Het |
Zswim1 |
T |
A |
2: 164,667,203 (GRCm39) |
Y152N |
possibly 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGAGGATTTTAGCCAGGACAGC -3'
(R):5'- TGACTTCTAGCCTCCAGTGACCAC -3'
Sequencing Primer
(F):5'- ACAGGTGAAGATGGTGGTAC -3'
(R):5'- CTCGGTGATGAGAAAGATCTACCTC -3'
|
Posted On |
2013-05-23 |