Incidental Mutation 'R6536:Hsdl2'
| ID |
520399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsdl2
|
| Ensembl Gene |
ENSMUSG00000028383 |
| Gene Name |
hydroxysteroid dehydrogenase like 2 |
| Synonyms |
2610207I16Rik |
| MMRRC Submission |
044662-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6536 (G1)
|
| Quality Score |
172.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 59610508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030078]
[ENSMUST00000030078]
[ENSMUST00000107528]
[ENSMUST00000107528]
|
| AlphaFold |
Q2TPA8 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9596 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
G |
T |
11: 48,910,550 (GRCm39) |
H628N |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,769,030 (GRCm39) |
F751I |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,865,762 (GRCm39) |
V106M |
probably damaging |
Het |
| Add1 |
C |
A |
5: 34,758,780 (GRCm39) |
N31K |
possibly damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,552 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
G |
14: 78,748,754 (GRCm39) |
D1211A |
possibly damaging |
Het |
| Atp5f1c |
G |
A |
2: 10,085,127 (GRCm39) |
|
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,477 (GRCm39) |
S72P |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,622,490 (GRCm39) |
W525L |
possibly damaging |
Het |
| Cripto |
A |
T |
9: 110,773,257 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
G |
A |
15: 47,701,863 (GRCm39) |
T1740I |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,697,450 (GRCm39) |
S2122A |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,726,027 (GRCm39) |
N583S |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,511 (GRCm39) |
V964A |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,235,367 (GRCm39) |
I366F |
probably benign |
Het |
| Hsd17b2 |
G |
A |
8: 118,428,921 (GRCm39) |
V63M |
possibly damaging |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
A |
G |
3: 151,438,126 (GRCm39) |
V387A |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,355,512 (GRCm39) |
D312G |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klra6 |
C |
T |
6: 130,000,682 (GRCm39) |
V41I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,393,937 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,301,654 (GRCm39) |
E257G |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,873,760 (GRCm39) |
V125A |
probably benign |
Het |
| Or4f14 |
T |
C |
2: 111,743,119 (GRCm39) |
D52G |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,661 (GRCm39) |
Y789C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,467,221 (GRCm39) |
L1680P |
probably damaging |
Het |
| Pcdhac1 |
A |
G |
18: 37,223,367 (GRCm39) |
N60S |
probably benign |
Het |
| Polr3g |
T |
C |
13: 81,826,335 (GRCm39) |
N162S |
unknown |
Het |
| Pou3f3 |
A |
G |
1: 42,737,374 (GRCm39) |
I357V |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,993,441 (GRCm39) |
S1235P |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,521,081 (GRCm39) |
S148P |
possibly damaging |
Het |
| Usp49 |
A |
T |
17: 47,990,617 (GRCm39) |
I348F |
probably damaging |
Het |
| Wac |
A |
T |
18: 7,905,189 (GRCm39) |
|
probably null |
Het |
| Zfp775 |
A |
G |
6: 48,596,543 (GRCm39) |
K139R |
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 |
|
|
R6435:Hsdl2
|
UTSW |
4 |
59,610,668 (GRCm39) |
missense |
unknown |
|
|
R6525:Hsdl2
|
UTSW |
4 |
59,612,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AGCCAACCTTTAACTTAGGAGAGATAG -3'
(R):5'- CTTCCACAGCTCCAAAATGTG -3'
Sequencing Primer
(F):5'- AGCTTTTTAGCATTCACAGCCACAG -3'
(R):5'- CATTGACTGCACAAATGGCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation