Incidental Mutation 'R1353:Hsdl2'
| ID |
157085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsdl2
|
| Ensembl Gene |
ENSMUSG00000028383 |
| Gene Name |
hydroxysteroid dehydrogenase like 2 |
| Synonyms |
2610207I16Rik |
| MMRRC Submission |
039418-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 59596971 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 |
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: 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: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn2 |
T |
C |
4: 66,184,572 (GRCm39) |
Q175R |
unknown |
Het |
| Capn9 |
A |
C |
8: 125,332,305 (GRCm39) |
|
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,839,556 (GRCm39) |
N1364S |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,178,033 (GRCm39) |
V3607E |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,677,293 (GRCm39) |
C262R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,055 (GRCm39) |
N204S |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,338,771 (GRCm39) |
T676A |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,134,944 (GRCm39) |
V246M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,355,669 (GRCm39) |
S461P |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,293,220 (GRCm39) |
L394Q |
probably benign |
Het |
| Klri2 |
C |
T |
6: 129,716,049 (GRCm39) |
G97S |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,778 (GRCm39) |
I55V |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,132,779 (GRCm39) |
D1900G |
unknown |
Het |
| Map1b |
A |
G |
13: 99,563,834 (GRCm39) |
S2378P |
unknown |
Het |
| Marchf3 |
A |
T |
18: 56,909,177 (GRCm39) |
|
probably null |
Het |
| Myom2 |
G |
T |
8: 15,156,424 (GRCm39) |
W757L |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,584,418 (GRCm39) |
M120L |
possibly damaging |
Het |
| Ncam2 |
T |
G |
16: 80,997,803 (GRCm39) |
M1R |
probably null |
Het |
| Ncoa4 |
G |
T |
14: 31,892,815 (GRCm39) |
G33* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,926 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or1x2 |
G |
A |
11: 50,917,833 (GRCm39) |
M1I |
probably null |
Het |
| Or2a20 |
T |
A |
6: 43,194,624 (GRCm39) |
M259K |
probably benign |
Het |
| Or4p21 |
T |
C |
2: 88,276,895 (GRCm39) |
H129R |
probably benign |
Het |
| Or6c38 |
C |
T |
10: 128,929,733 (GRCm39) |
V37I |
probably benign |
Het |
| Or8b41 |
A |
C |
9: 38,055,024 (GRCm39) |
I198L |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,112,340 (GRCm39) |
N485S |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,703,119 (GRCm39) |
V939E |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,459,926 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,024 (GRCm39) |
C285S |
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,558,633 (GRCm39) |
C1069G |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,657,595 (GRCm39) |
A583E |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,485,939 (GRCm39) |
R32* |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,057 (GRCm39) |
I67M |
probably damaging |
Het |
| Slc22a12 |
G |
C |
19: 6,587,812 (GRCm39) |
L259V |
possibly damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,388,520 (GRCm39) |
S321P |
probably damaging |
Het |
| Tmem30c |
C |
T |
16: 57,098,028 (GRCm39) |
G131D |
probably damaging |
Het |
| Tnfaip2 |
A |
T |
12: 111,411,403 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,910 (GRCm39) |
Y24661C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,394 (GRCm39) |
F427V |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,240 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,475,600 (GRCm39) |
N97K |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,442 (GRCm39) |
D49G |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,405,452 (GRCm39) |
T1550I |
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 |
|
|
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'- TGCCAGCACATCACTGAGCAAG -3'
(R):5'- GTGACCTGAGACACTGCACAAGAG -3'
Sequencing Primer
(F):5'- GCACATCACTGAGCAAGTTTAGTTAC -3'
(R):5'- tcacattacatcctgcccac -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation