Incidental Mutation 'RF060:Hsdl2'
ID |
605373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hsdl2
|
Ensembl Gene |
ENSMUSG00000028383 |
Gene Name |
hydroxysteroid dehydrogenase like 2 |
Synonyms |
2610207I16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF060 (G1)
|
Quality Score |
108.467 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59581563-59618689 bp(+) (GRCm39) |
Type of Mutation |
small insertion (6 aa in frame mutation) |
DNA Base Change (assembly) |
AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC to AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC
at 59610608 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
GCTG |
GCTGTGGCTTCTG |
1: 82,891,308 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
CTGTGGCTG |
CTGTGGCTGATGTGGCTG |
1: 82,891,300 (GRCm39) |
|
probably null |
Het |
Ankhd1 |
G |
GTGGCGC |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGCAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
Cd109 |
ATTTATTTAT |
ATTTATTTATTTCTTTATTTAT |
9: 78,619,807 (GRCm39) |
|
probably benign |
Het |
Chd4 |
CC |
CCACTGGC |
6: 125,099,108 (GRCm39) |
|
probably benign |
Het |
Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
CGTT |
CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT |
9: 20,821,438 (GRCm39) |
|
probably null |
Het |
Fam171b |
GC |
GCCGCAAC |
2: 83,643,221 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
Gab3 |
TTC |
TTCCTC |
X: 74,043,619 (GRCm39) |
|
probably benign |
Het |
Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
Klra10 |
TGTAGT |
TGT |
6: 130,252,784 (GRCm39) |
|
probably benign |
Het |
L1td1 |
GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA |
GAGGAGGA |
4: 98,625,031 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,438 (GRCm39) |
|
probably benign |
Het |
Map1a |
A |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC |
2: 121,136,799 (GRCm39) |
|
probably benign |
Het |
Nefh |
GACTTGGCC |
GACTTGGCCCCACCTGGGTACTTGGCC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
Nefh |
CT |
CTGGGCTTCACCTGGGGATT |
11: 4,891,052 (GRCm39) |
|
probably benign |
Het |
Pdk1 |
CTGGCCT |
C |
2: 71,703,789 (GRCm39) |
|
probably benign |
Het |
Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
T |
TCTCTCTCTCTCTCTCC |
10: 84,694,358 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
CTCGCT |
CTCGCTGTCGCT |
4: 34,049,841 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
CAG |
CAGCGATCCTCCCCAGTCCCGCAAGGCAAG |
5: 77,164,274 (GRCm39) |
|
probably benign |
Het |
St3gal5 |
G |
GCACTC |
6: 72,074,836 (GRCm39) |
|
probably null |
Het |
Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
Tcof1 |
CAG |
CAGTAG |
18: 60,968,816 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
C |
CAGT |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,031 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
TTTGTTT |
TTTGTTTGCTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
G |
GAAACAGCAA |
8: 109,682,720 (GRCm39) |
|
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 |
|
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 |
|
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'- TTGGCGGCTTTCCCCATAAG -3'
(R):5'- ATGTTTCTTCCACAGCTCCAAAATG -3'
Sequencing Primer
(F):5'- TTATGCTTTTAGATGCCATTTAATGC -3'
(R):5'- CCAAAATGTGGTTTTTGTGGTAGC -3'
|
Posted On |
2019-12-04 |