Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01900:Dhrs4'

179504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhrs4

Ensembl Gene

ENSMUSG00000022210

Gene Name

dehydrogenase/reductase 4

Synonyms

dehydrogenase/reductase (SDR family) member 4, RRD, D14Ucla2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL01900

Quality Score

Status

Chromosome

Chromosomal Location

55716215-55727797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55725654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 236 (E236G)

Ref Sequence

ENSEMBL: ENSMUSP00000022821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022821] [ENSMUST00000076236] [ENSMUST00000226168] [ENSMUST00000226298] [ENSMUST00000226757] [ENSMUST00000228877] [ENSMUST00000227488]

AlphaFold

Q99LB2

Predicted Effect

probably benign
Transcript: ENSMUST00000022821
AA Change: E236G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022821
Gene: ENSMUSG00000022210
AA Change: E236G

Domain	Start	End	E-Value	Type
Pfam:adh_short	34	229	7.8e-54	PFAM
Pfam:KR	35	210	8.4e-14	PFAM
Pfam:adh_short_C2	39	276	7.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076236

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

Domain	Start	End	E-Value	Type
low complexity region	138	151	N/A	INTRINSIC
internal_repeat_1	203	297	7.56e-6	PROSPERO
Blast:LRR	333	362	5e-10	BLAST
Blast:LRR	423	446	1e-5	BLAST
low complexity region	447	462	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC
internal_repeat_1	496	593	7.56e-6	PROSPERO
Pfam:CARMIL_C	778	1065	5.3e-76	PFAM
low complexity region	1068	1117	N/A	INTRINSIC
low complexity region	1137	1146	N/A	INTRINSIC
low complexity region	1204	1216	N/A	INTRINSIC
low complexity region	1318	1329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226168

Predicted Effect

probably benign
Transcript: ENSMUST00000226298

Predicted Effect

probably benign
Transcript: ENSMUST00000226757

Predicted Effect

unknown
Transcript: ENSMUST00000226902
AA Change: E155G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227312

Predicted Effect

probably benign
Transcript: ENSMUST00000228353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227513

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

probably benign
Transcript: ENSMUST00000227488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227542

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit a decreased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. Female mutants exhibit an increased depressive-like response during tail suspension testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc2	T	C	11: 101,219,649 (GRCm39)	Y627H	probably damaging	Het
Car14	T	C	3: 95,808,533 (GRCm39)	D27G	probably benign	Het
Col6a3	A	G	1: 90,722,732 (GRCm39)		probably null	Het
Ddx60	T	C	8: 62,453,743 (GRCm39)		probably benign	Het
Fpr1	T	A	17: 18,097,783 (GRCm39)	T69S	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hmcn1	A	T	1: 150,618,011 (GRCm39)		probably benign	Het
Hook2	T	C	8: 85,727,940 (GRCm39)		probably benign	Het
Krt6b	C	T	15: 101,585,981 (GRCm39)	R364H	possibly damaging	Het
Myh2	T	A	11: 67,074,609 (GRCm39)	I720N	probably benign	Het
Optc	A	G	1: 133,829,867 (GRCm39)	V181A	possibly damaging	Het
Or52n5	A	G	7: 104,588,369 (GRCm39)	D212G	probably damaging	Het
Ptprn	A	G	1: 75,228,892 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,333,841 (GRCm39)	T3018A	probably benign	Het
Rps27l	T	A	9: 66,854,225 (GRCm39)		probably benign	Het
Serpinb6c	A	T	13: 34,064,173 (GRCm39)	M294K	possibly damaging	Het
Spef1l	A	T	7: 139,552,483 (GRCm39)	V274E	probably damaging	Het
Tekt2	G	T	4: 126,218,421 (GRCm39)	T83K	probably benign	Het
Vmn2r62	T	A	7: 42,438,495 (GRCm39)	N114Y	probably benign	Het

Other mutations in Dhrs4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1496:Dhrs4	UTSW	14	55,725,107 (GRCm39)	missense	probably damaging	0.98
R1962:Dhrs4	UTSW	14	55,725,060 (GRCm39)	missense	probably damaging	1.00
R3716:Dhrs4	UTSW	14	55,716,362 (GRCm39)	start codon destroyed	probably null	1.00
R6027:Dhrs4	UTSW	14	55,723,580 (GRCm39)	missense	probably benign	0.00
R7866:Dhrs4	UTSW	14	55,725,092 (GRCm39)	missense	probably damaging	1.00
R7958:Dhrs4	UTSW	14	55,725,078 (GRCm39)	missense	probably damaging	1.00
R9347:Dhrs4	UTSW	14	55,727,306 (GRCm39)	missense	possibly damaging	0.61
R9365:Dhrs4	UTSW	14	55,724,776 (GRCm39)	missense	probably benign	0.23
R9522:Dhrs4	UTSW	14	55,716,219 (GRCm39)	unclassified	probably benign
X0021:Dhrs4	UTSW	14	55,724,581 (GRCm39)	missense	probably benign	0.28

Posted On

2014-05-07