Mutagenetix > Incidental Mutations

Incidental Mutation 'R0890:Dhrs13'

83476

Institutional Source

Beutler Lab

Gene Symbol

Dhrs13

Ensembl Gene

ENSMUSG00000020834

Gene Name

dehydrogenase/reductase (SDR family) member 13

Synonyms

MMRRC Submission

039053-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78032280-78037866 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78034350 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 99 (L99Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021187] [ENSMUST00000049167] [ENSMUST00000072289] [ENSMUST00000073660] [ENSMUST00000092881] [ENSMUST00000100784] [ENSMUST00000122342] [ENSMUST00000144028] [ENSMUST00000148162]

Predicted Effect

probably null
Transcript: ENSMUST00000021187
AA Change: L149Q

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

SMART Domains

Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834
AA Change: L149Q

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:KR	37	176	1.6e-10	PFAM
Pfam:adh_short	37	238	6e-32	PFAM
Pfam:Epimerase	39	256	3.4e-7	PFAM
low complexity region	317	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000049167

SMART Domains

Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

Domain	Start	End	E-Value	Type
low complexity region	37	52	N/A	INTRINSIC
PHD	58	103	7.23e-11	SMART
low complexity region	182	200	N/A	INTRINSIC
Pfam:PHF12_MRG_bd	202	241	1.3e-21	PFAM
PHD	273	319	1.66e-10	SMART
low complexity region	616	630	N/A	INTRINSIC
Blast:FHA	813	868	9e-34	BLAST
low complexity region	905	916	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000072289

SMART Domains

Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981

Domain	Start	End	E-Value	Type
PHB	87	269	1.34e-10	SMART
Pfam:Flot	311	422	6.3e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000073660

SMART Domains

Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981

Domain	Start	End	E-Value	Type
PHB	87	269	1.34e-10	SMART
Pfam:Flot	311	422	5.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000092881

SMART Domains

Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:adh_short	37	111	3.2e-9	PFAM
Pfam:NAD_binding_10	39	116	7.6e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000100784

SMART Domains

Protein: ENSMUSP00000098347
Gene: ENSMUSG00000061981

Domain	Start	End	E-Value	Type
PHB	38	220	1.34e-10	SMART
Blast:PHB	277	347	2e-35	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000122342
AA Change: L99Q

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

SMART Domains

Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834
AA Change: L99Q

Domain	Start	End	E-Value	Type
Pfam:adh_short	1	131	9.1e-17	PFAM
low complexity region	267	292	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125079

Predicted Effect

probably benign
Transcript: ENSMUST00000144028

Predicted Effect

probably benign
Transcript: ENSMUST00000148162

SMART Domains

Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981

Domain	Start	End	E-Value	Type
Blast:PHB	2	74	2e-34	BLAST
PDB:1WIN\|A	40	74	2e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150471

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 120,373,713	S837P	probably benign	Het
Cdh24	A	G	14: 54,632,594	V240A	probably benign	Het
Clcn4	T	C	7: 7,288,965	T556A	possibly damaging	Het
Coa7	G	A	4: 108,338,386	A171T	probably damaging	Het
Col12a1	A	T	9: 79,700,402	S381R	probably damaging	Het
Col9a3	C	T	2: 180,610,063	P335L	probably benign	Het
Dcxr	T	A	11: 120,726,471	N82I	probably damaging	Het
Dhdh	T	C	7: 45,481,971	D146G	possibly damaging	Het
Dnaic1	C	T	4: 41,604,253	T220M	possibly damaging	Het
Gapvd1	T	A	2: 34,712,317	D606V	probably damaging	Het
Gcn1l1	T	G	5: 115,579,793	C246G	possibly damaging	Het
Gdf10	A	G	14: 33,932,156	K207E	possibly damaging	Het
Gucy2d	T	C	7: 98,473,265	V1046A	probably benign	Het
Itpr3	C	A	17: 27,089,011	Y257*	probably null	Het
Kifc5b	C	T	17: 26,923,022	T158M	possibly damaging	Het
Klra7	C	T	6: 130,218,953	D251N	probably benign	Het
Mesp1	T	C	7: 79,792,935	D198G	probably benign	Het
Mrgprb8	T	A	7: 48,389,029	C149*	probably null	Het
Nphp4	C	A	4: 152,498,220	L169I	possibly damaging	Het
Olfr183	T	A	16: 58,999,787	I34K	possibly damaging	Het
Olfr3	T	A	2: 36,812,574	T173S	probably benign	Het
Olfr551	C	A	7: 102,588,201	E181*	probably null	Het
Pcgf5	A	T	19: 36,412,144	H7L	probably benign	Het
Polr3b	A	C	10: 84,714,336	K970T	probably benign	Het
Pomgnt1	A	G	4: 116,152,185	D93G	probably benign	Het
Rnf213	A	G	11: 119,430,486	K1256E	possibly damaging	Het
Scn9a	T	C	2: 66,483,735	T1869A	probably damaging	Het
Setdb2	A	G	14: 59,419,220	V232A	possibly damaging	Het
Sh3d21	T	C	4: 126,151,152	E578G	probably damaging	Het
Tmem168	A	T	6: 13,603,272	S32T	probably damaging	Het
Vmn1r38	T	G	6: 66,776,530	I201L	probably benign	Het
Wfs1	C	A	5: 36,975,544	W130C	probably damaging	Het

Other mutations in Dhrs13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0594:Dhrs13	UTSW	11	78034525	missense	probably damaging	0.98
R0684:Dhrs13	UTSW	11	78036963	missense	probably damaging	1.00
R4424:Dhrs13	UTSW	11	78037125	nonsense	probably null
R5038:Dhrs13	UTSW	11	78032430	unclassified	probably benign
R6151:Dhrs13	UTSW	11	78036982	missense	probably damaging	1.00
R6306:Dhrs13	UTSW	11	78032693	missense	probably damaging	0.97
R6765:Dhrs13	UTSW	11	78037139	missense	probably benign
R7177:Dhrs13	UTSW	11	78034382	missense	probably benign	0.05
R7525:Dhrs13	UTSW	11	78032434	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAAGCTCTGAGCCAAGGCTGGAC -3'
(R):5'- ATAGCAGGTAACACCAGTGCCCTC -3'

Sequencing Primer
(F):5'- TCATCCACAATGCAGGTGAG -3'
(R):5'- CTCAAGCTGGGTGGCAAG -3'

Posted On

2013-11-08