Incidental Mutation 'R5361:Hsdl2'
| ID |
422797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsdl2
|
| Ensembl Gene |
ENSMUSG00000028383 |
| Gene Name |
hydroxysteroid dehydrogenase like 2 |
| Synonyms |
2610207I16Rik |
| MMRRC Submission |
042940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5361 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 59592301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030078]
[ENSMUST00000107528]
[ENSMUST00000128792]
|
| AlphaFold |
Q2TPA8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000030078
AA Change: Y55C
|
| SMART Domains |
Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: Y55C
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128792
|
| SMART Domains |
Protein: ENSMUSP00000119139
Gene: ENSMUSG00000028383
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hu4a_
|
9 |
122 |
1e-19 |
SMART |
|
PDB:3KVO|B
|
9 |
149 |
8e-83 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
A |
9: 57,164,468 (GRCm39) |
K635N |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,705 (GRCm39) |
M4663K |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,960,212 (GRCm39) |
T280S |
probably benign |
Het |
| Ccdc166 |
A |
G |
15: 75,852,869 (GRCm39) |
V366A |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,493,044 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,792,292 (GRCm39) |
T1281A |
unknown |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,233,484 (GRCm39) |
D127V |
probably damaging |
Het |
| Ddx20 |
T |
A |
3: 105,590,825 (GRCm39) |
E197V |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,814,324 (GRCm39) |
M96V |
probably benign |
Het |
| Dnm3 |
A |
G |
1: 161,838,471 (GRCm39) |
S826P |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,945,643 (GRCm39) |
V24A |
probably benign |
Het |
| Dop1b |
C |
A |
16: 93,567,392 (GRCm39) |
A1273E |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,416,703 (GRCm39) |
V868A |
possibly damaging |
Het |
| Dtx4 |
A |
G |
19: 12,462,626 (GRCm39) |
|
probably null |
Het |
| Elovl4 |
A |
G |
9: 83,672,154 (GRCm39) |
L55P |
possibly damaging |
Het |
| Fbxo40 |
T |
A |
16: 36,789,914 (GRCm39) |
T399S |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm14399 |
T |
C |
2: 174,973,371 (GRCm39) |
E96G |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,147 (GRCm39) |
V606G |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,826,087 (GRCm39) |
E768G |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,723,704 (GRCm39) |
T665S |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,064,928 (GRCm39) |
V3047A |
possibly damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,676,011 (GRCm39) |
T107S |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,101,272 (GRCm39) |
T899S |
probably benign |
Het |
| Lhcgr |
T |
A |
17: 89,050,281 (GRCm39) |
Y415F |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med4 |
C |
A |
14: 73,747,553 (GRCm39) |
S18* |
probably null |
Het |
| Nefl |
T |
C |
14: 68,322,088 (GRCm39) |
V226A |
probably damaging |
Het |
| Nploc4 |
T |
A |
11: 120,275,389 (GRCm39) |
N516Y |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,590,501 (GRCm39) |
V270A |
probably benign |
Het |
| Or6c66 |
A |
T |
10: 129,461,601 (GRCm39) |
F110I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdha3 |
T |
G |
18: 37,079,752 (GRCm39) |
L165V |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,099 (GRCm39) |
V415D |
probably damaging |
Het |
| Pcdhga10 |
T |
C |
18: 37,880,503 (GRCm39) |
I88T |
probably damaging |
Het |
| Pigyl |
T |
A |
9: 22,069,292 (GRCm39) |
M1K |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,203 (GRCm39) |
S272P |
probably damaging |
Het |
| Prss3 |
C |
T |
6: 41,350,780 (GRCm39) |
D237N |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,958,078 (GRCm39) |
D150G |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,324,674 (GRCm39) |
D909E |
probably benign |
Het |
| Serpinb3c |
A |
T |
1: 107,204,661 (GRCm39) |
Y28* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,500,980 (GRCm39) |
|
probably null |
Het |
| Slc6a1 |
A |
T |
6: 114,279,493 (GRCm39) |
I91F |
probably benign |
Het |
| Smcr8 |
T |
G |
11: 60,669,118 (GRCm39) |
Y89D |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,443,247 (GRCm39) |
M1898K |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,233 (GRCm39) |
I251K |
probably damaging |
Het |
| Thbs4 |
C |
T |
13: 92,913,501 (GRCm39) |
D140N |
probably benign |
Het |
| Tmbim6 |
G |
A |
15: 99,303,633 (GRCm39) |
A108T |
probably benign |
Het |
| Trim10 |
T |
G |
17: 37,186,328 (GRCm39) |
L301R |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,671,161 (GRCm39) |
I607N |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,929 (GRCm39) |
I240F |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,436,765 (GRCm39) |
I873F |
possibly damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,464,267 (GRCm39) |
S1475N |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,079 (GRCm39) |
S483P |
possibly damaging |
Het |
| Zswim7 |
A |
T |
11: 62,158,373 (GRCm39) |
H122Q |
probably benign |
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 |
|
|
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'- TCTAACCAGGTCGCCTTTGC -3'
(R):5'- GATGGTCAGAATGCCCTCTCTTAAG -3'
Sequencing Primer
(F):5'- GCTCTGTTCAGGAAGCTAGC -3'
(R):5'- GGTTCTCAGTCTGTAAACCAGGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation