Incidental Mutation 'R3162:Dhrs3'
ID |
349836 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhrs3
|
Ensembl Gene |
ENSMUSG00000066026 |
Gene Name |
dehydrogenase/reductase 3 |
Synonyms |
dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1 |
MMRRC Submission |
040613-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3162 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
144619397-144654779 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 144646016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 108
(D108G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084184]
[ENSMUST00000105744]
[ENSMUST00000142808]
[ENSMUST00000154208]
[ENSMUST00000171001]
|
AlphaFold |
O88876 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084184
|
SMART Domains |
Protein: ENSMUSP00000081200 Gene: ENSMUSG00000066026
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
39 |
121 |
1.7e-19 |
PFAM |
Pfam:KR
|
40 |
119 |
1.5e-16 |
PFAM |
Pfam:Polysacc_synt_2
|
41 |
121 |
1.3e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105744
|
SMART Domains |
Protein: ENSMUSP00000101370 Gene: ENSMUSG00000066026
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
92 |
2.1e-18 |
PFAM |
Pfam:KR
|
14 |
93 |
1.5e-15 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
90 |
4.2e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133265
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142808
AA Change: D108G
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122578 Gene: ENSMUSG00000066026 AA Change: D108G
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
146 |
6.1e-29 |
PFAM |
Pfam:KR
|
14 |
139 |
5.9e-20 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
109 |
4.2e-10 |
PFAM |
Pfam:Epimerase
|
15 |
124 |
3.8e-8 |
PFAM |
Pfam:adh_short_C2
|
19 |
146 |
3.3e-12 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154208
AA Change: D134G
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122552 Gene: ENSMUSG00000066026 AA Change: D134G
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
39 |
233 |
7.8e-42 |
PFAM |
Pfam:KR
|
40 |
213 |
2.3e-21 |
PFAM |
Pfam:Polysacc_synt_2
|
41 |
132 |
2.8e-9 |
PFAM |
Pfam:adh_short_C2
|
45 |
205 |
4.8e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171001
AA Change: D108G
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126154 Gene: ENSMUSG00000066026 AA Change: D108G
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
13 |
181 |
2.1e-34 |
PFAM |
Pfam:KR
|
14 |
191 |
2.7e-21 |
PFAM |
Pfam:Polysacc_synt_2
|
15 |
106 |
1.8e-9 |
PFAM |
Pfam:Epimerase
|
15 |
124 |
2e-7 |
PFAM |
Pfam:adh_short_C2
|
19 |
179 |
2e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.1729 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (62/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009] PHENOTYPE: Mice homozygous for a targeted mutation die before weaning age. Mice homozygous for a gene trap allele exhibit perinatal lethality, altered retinoid metabolism and heart, craniofacial and skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
A |
15: 59,888,134 (GRCm39) |
E102V |
probably damaging |
Het |
9930014A18Rik |
A |
T |
15: 60,695,296 (GRCm39) |
V150E |
probably damaging |
Het |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
AW551984 |
C |
A |
9: 39,504,325 (GRCm39) |
R547L |
probably damaging |
Het |
B3galt6 |
A |
G |
4: 156,076,464 (GRCm39) |
Y204H |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,603,335 (GRCm39) |
L881P |
probably damaging |
Het |
Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dusp6 |
T |
C |
10: 99,099,944 (GRCm39) |
Y131H |
probably damaging |
Het |
Eif2b2 |
A |
T |
12: 85,266,435 (GRCm39) |
M34L |
probably benign |
Het |
Errfi1 |
G |
A |
4: 150,951,816 (GRCm39) |
E415K |
probably damaging |
Het |
Ext1 |
T |
C |
15: 53,208,000 (GRCm39) |
N254D |
possibly damaging |
Het |
Gm13141 |
GGTTTCTTGATGCC |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Hpx |
C |
T |
7: 105,248,847 (GRCm39) |
|
probably benign |
Het |
Hyal3 |
T |
A |
9: 107,464,005 (GRCm39) |
C407S |
probably damaging |
Het |
Insr |
T |
G |
8: 3,211,416 (GRCm39) |
N1141T |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
Ivd |
T |
C |
2: 118,692,650 (GRCm39) |
|
probably null |
Het |
Leprot |
C |
T |
4: 101,515,090 (GRCm39) |
T89I |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
Nusap1 |
A |
T |
2: 119,460,885 (GRCm39) |
Q126L |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
Or5al1 |
T |
C |
2: 85,990,439 (GRCm39) |
I92V |
probably benign |
Het |
Or6x1 |
G |
T |
9: 40,098,901 (GRCm39) |
Q163H |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
Pdik1l |
A |
G |
4: 134,011,561 (GRCm39) |
L94S |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,700,818 (GRCm39) |
D1706V |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,924 (GRCm39) |
I856M |
probably damaging |
Het |
Prkcz |
A |
T |
4: 155,374,981 (GRCm39) |
D114E |
probably benign |
Het |
Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
Ptprk |
T |
C |
10: 28,468,822 (GRCm39) |
V1402A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,006,044 (GRCm39) |
S979P |
probably damaging |
Het |
Skic2 |
C |
T |
17: 35,066,789 (GRCm39) |
W88* |
probably null |
Het |
Skic8 |
T |
A |
9: 54,631,473 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,474,347 (GRCm39) |
I294T |
possibly damaging |
Het |
Tert |
A |
G |
13: 73,775,528 (GRCm39) |
E93G |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
Ttc22 |
A |
T |
4: 106,480,276 (GRCm39) |
I177F |
probably damaging |
Het |
Vmn2r86 |
T |
C |
10: 130,291,673 (GRCm39) |
R31G |
probably damaging |
Het |
Wnt5a |
T |
C |
14: 28,244,445 (GRCm39) |
Y231H |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,988,860 (GRCm39) |
Y709H |
probably damaging |
Het |
|
Other mutations in Dhrs3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01730:Dhrs3
|
APN |
4 |
144,646,042 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02226:Dhrs3
|
APN |
4 |
144,650,519 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02236:Dhrs3
|
APN |
4 |
144,620,133 (GRCm39) |
missense |
probably benign |
|
IGL02728:Dhrs3
|
APN |
4 |
144,646,642 (GRCm39) |
missense |
probably damaging |
0.98 |
R0079:Dhrs3
|
UTSW |
4 |
144,646,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R0734:Dhrs3
|
UTSW |
4 |
144,653,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R1474:Dhrs3
|
UTSW |
4 |
144,646,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R1632:Dhrs3
|
UTSW |
4 |
144,620,116 (GRCm39) |
missense |
probably benign |
0.30 |
R2010:Dhrs3
|
UTSW |
4 |
144,653,758 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3162:Dhrs3
|
UTSW |
4 |
144,646,016 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3176:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R3276:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R3440:Dhrs3
|
UTSW |
4 |
144,646,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Dhrs3
|
UTSW |
4 |
144,620,281 (GRCm39) |
critical splice donor site |
probably null |
|
R3795:Dhrs3
|
UTSW |
4 |
144,645,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R5571:Dhrs3
|
UTSW |
4 |
144,620,134 (GRCm39) |
missense |
probably benign |
0.34 |
R5943:Dhrs3
|
UTSW |
4 |
144,646,546 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6457:Dhrs3
|
UTSW |
4 |
144,646,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Dhrs3
|
UTSW |
4 |
144,650,510 (GRCm39) |
missense |
probably benign |
0.00 |
R8144:Dhrs3
|
UTSW |
4 |
144,646,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Dhrs3
|
UTSW |
4 |
144,645,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9029:Dhrs3
|
UTSW |
4 |
144,653,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Dhrs3
|
UTSW |
4 |
144,653,769 (GRCm39) |
missense |
probably benign |
0.41 |
R9698:Dhrs3
|
UTSW |
4 |
144,646,508 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAATCCTCAGACACAGCTGG -3'
(R):5'- TGTTGAATGTCCCTGCAGGC -3'
Sequencing Primer
(F):5'- TAATCCTCAGACACAGCTGGTATGG -3'
(R):5'- TGAATGTCCCTGCAGGCATGAG -3'
|
Posted On |
2015-10-08 |