Incidental Mutation 'RF038:Hsdl2'
| ID |
604658 |
| 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 # |
RF038 (G1)
|
| Quality Score |
217.733 |
|
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) |
CACAGCTGCAG to CACAGCTGCAGCAGCAGCGACAGCTGCAG
at 59610648 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: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGT |
TGTAGCTGCGGT |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTTCATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCAGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GCG |
GCGACG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGGTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACACACACACTGCGCAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGAAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGAAGTGGTGG |
GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CTC |
CTCATC |
2: 130,612,664 (GRCm39) |
|
probably null |
Het |
| Enah |
TGGCGGCGG |
TGG |
1: 181,749,500 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
ACCCACTCCTGGTGT |
ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT |
17: 23,981,138 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Fscb |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,343 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
| Gas1 |
CGAGGA |
CGAGGAGGA |
13: 60,324,342 (GRCm39) |
|
probably benign |
Het |
| Gas1 |
AG |
AGATG |
13: 60,324,344 (GRCm39) |
|
probably benign |
Het |
| Gm15155 |
CAAAAA |
CAAAAACAAAAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Habp4 |
TGAGG |
TG |
13: 64,309,976 (GRCm39) |
|
probably benign |
Het |
| Il2 |
CTT |
CTTCAAGTGGGGATT |
3: 37,179,970 (GRCm39) |
|
probably null |
Het |
| Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CA |
CAACCAAA |
1: 83,019,849 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACAGCCACCACAGCCACAGCCACCA |
CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA |
1: 83,019,978 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
C |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,027 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTCACCTGGGGACTTGGC |
CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,018 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,019 (GRCm39) |
|
probably benign |
Het |
| Pabpc6 |
AGCTGC |
AGC |
17: 9,887,044 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTTTTT |
TTTTTTTTGTTTTT |
15: 44,421,899 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TGTAGAGCAATGGGGATTC |
TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC |
5: 90,756,783 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GCAATGGGGATTC |
GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC |
5: 90,756,789 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
CAGGTATTGCGGGACC |
CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AAGATG |
AAGATGCTGACAACACAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
| Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCAGAGATCCCC |
TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCGGC |
17: 48,097,030 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTCCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCACCAGAAGCA |
8: 109,682,733 (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 |
|
|
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'- TTGGCGGCTTTCCCCATAAG -3'
(R):5'- CATCACTGAGAGAGTCCTTAACAATTC -3'
Sequencing Primer
(F):5'- GCTTATACTGCCAAAACTTTAAGGC -3'
(R):5'- CAATTCTAAATGTTTCTTCCACAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation