Mutagenetix > Incidental Mutation

Incidental Mutation 'R6162:Dhrs11'

489931

Institutional Source

Beutler Lab

Gene Symbol

Dhrs11

Ensembl Gene

ENSMUSG00000034449

Gene Name

dehydrogenase/reductase 11

Synonyms

dehydrogenase/reductase (SDR family) member 11

MMRRC Submission

044309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6162 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

84711682-84719820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84719605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 40 (G40D)

Ref Sequence

ENSEMBL: ENSMUSP00000043467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000047560] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000151496] [ENSMUST00000154915] [ENSMUST00000172405] [ENSMUST00000168434]

AlphaFold

Q3U0B3

Predicted Effect

probably benign
Transcript: ENSMUST00000018547

SMART Domains

Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
low complexity region	179	185	N/A	INTRINSIC
coiled coil region	393	426	N/A	INTRINSIC
low complexity region	570	584	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000047560
AA Change: G40D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449
AA Change: G40D

Domain	Start	End	E-Value	Type
Pfam:adh_short	12	214	1.4e-46	PFAM
Pfam:KR	13	154	1.7e-11	PFAM
Pfam:Epimerase	14	251	4.8e-7	PFAM
Pfam:adh_short_C2	18	245	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100686

SMART Domains

Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
coiled coil region	351	388	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108081

SMART Domains

Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
coiled coil region	353	386	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126016

Predicted Effect

unknown
Transcript: ENSMUST00000151496
AA Change: G40D

SMART Domains

Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449
AA Change: G40D

Domain	Start	End	E-Value	Type
Pfam:adh_short	12	49	6.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154915

SMART Domains

Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
coiled coil region	351	384	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172405

SMART Domains

Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
coiled coil region	353	386	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168434

SMART Domains

Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530

Domain	Start	End	E-Value	Type
coiled coil region	351	384	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC

Meta Mutation Damage Score

0.6088

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,259,047 (GRCm39)	C2924W	probably damaging	Het
Adh4	T	A	3: 138,121,250 (GRCm39)		probably null	Het
Aox3	A	T	1: 58,198,890 (GRCm39)	D695V	possibly damaging	Het
Ccnj	A	G	19: 40,833,606 (GRCm39)	Y221C	probably damaging	Het
Cct2	T	A	10: 116,894,091 (GRCm39)	D221V	probably damaging	Het
Cd5	G	A	19: 10,703,244 (GRCm39)	T138M	probably damaging	Het
Cep78	A	T	19: 15,952,304 (GRCm39)	M307K	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dnah10	A	G	5: 124,900,382 (GRCm39)	S3823G	probably benign	Het
Dnai3	T	A	3: 145,750,617 (GRCm39)	I821F	probably damaging	Het
Dock3	A	T	9: 106,841,998 (GRCm39)	Y944N	possibly damaging	Het
Dst	A	G	1: 34,045,318 (GRCm39)	D17G	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Fam20a	G	T	11: 109,573,696 (GRCm39)	S229*	probably null	Het
Fbn1	T	C	2: 125,202,147 (GRCm39)	D1242G	probably damaging	Het
Ggt5	T	A	10: 75,425,626 (GRCm39)	V28D	possibly damaging	Het
Gimap4	A	T	6: 48,667,655 (GRCm39)	I137F	probably damaging	Het
Git2	T	A	5: 114,899,717 (GRCm39)	H212L	probably damaging	Het
Gprc6a	T	A	10: 51,491,008 (GRCm39)	I739F	probably benign	Het
Il1rl2	A	G	1: 40,391,038 (GRCm39)	Y327C	probably damaging	Het
Lmf1	A	G	17: 25,831,368 (GRCm39)	I205V	probably benign	Het
Mipep	C	A	14: 61,024,853 (GRCm39)	P98Q	probably damaging	Het
Mroh2b	A	G	15: 4,944,707 (GRCm39)	D436G	probably damaging	Het
Mtcl2	T	A	2: 156,881,784 (GRCm39)	E756V	possibly damaging	Het
Myorg	A	G	4: 41,497,899 (GRCm39)	V577A	possibly damaging	Het
Notch1	C	T	2: 26,352,207 (GRCm39)	V2035I	probably benign	Het
Or1e28-ps1	T	A	11: 73,615,713 (GRCm39)	I46F	probably damaging	Het
Or2ag16	A	T	7: 106,352,227 (GRCm39)	Y123N	probably damaging	Het
Or4c118	G	T	2: 88,975,114 (GRCm39)	F84L	probably benign	Het
Oxa1l	A	G	14: 54,605,789 (GRCm39)	T395A	probably damaging	Het
Phospho2	T	A	2: 69,626,375 (GRCm39)	I177K	probably damaging	Het
Prpf40a	T	C	2: 53,049,317 (GRCm39)	T224A	probably benign	Het
Reln	T	A	5: 22,116,048 (GRCm39)	T2987S	probably damaging	Het
Scn5a	T	A	9: 119,351,621 (GRCm39)	I787F	probably damaging	Het
Sgsm2	A	T	11: 74,782,847 (GRCm39)	D36E	probably damaging	Het
Slc12a3	A	G	8: 95,072,401 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Top3a	T	C	11: 60,636,763 (GRCm39)	Y609C	probably damaging	Het
Trem2	A	G	17: 48,655,694 (GRCm39)	I84V	probably damaging	Het
Vmn2r12	A	G	5: 109,234,430 (GRCm39)	L594P	probably damaging	Het
Zdbf2	A	T	1: 63,319,977 (GRCm39)		probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Dhrs11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02217:Dhrs11	APN	11	84,713,221 (GRCm39)	nonsense	probably null
R0023:Dhrs11	UTSW	11	84,713,976 (GRCm39)	missense	probably damaging	1.00
R1583:Dhrs11	UTSW	11	84,713,943 (GRCm39)	missense	probably damaging	1.00
R1985:Dhrs11	UTSW	11	84,719,633 (GRCm39)	missense	probably damaging	1.00
R2433:Dhrs11	UTSW	11	84,719,745 (GRCm39)	unclassified	probably benign
R3911:Dhrs11	UTSW	11	84,712,579 (GRCm39)	missense	probably damaging	1.00
R4510:Dhrs11	UTSW	11	84,716,342 (GRCm39)	makesense	probably null
R4511:Dhrs11	UTSW	11	84,716,342 (GRCm39)	makesense	probably null
R4798:Dhrs11	UTSW	11	84,719,626 (GRCm39)	missense	probably benign	0.03
R5936:Dhrs11	UTSW	11	84,716,350 (GRCm39)	nonsense	probably null
R9591:Dhrs11	UTSW	11	84,719,584 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCTCAAGGCCGTTGCAAATG -3'
(R):5'- GGAGCCACCGATCTTCAGTAAC -3'

Sequencing Primer
(F):5'- TTGCAAATGGCCCTAGGG -3'
(R):5'- GATCTTCAGTAACCCCAGACTAAG -3'

Posted On

2017-10-10