Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Sdr42e1'

92265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sdr42e1

Ensembl Gene

ENSMUSG00000034308

Gene Name

short chain dehydrogenase/reductase family 42E, member 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

117661399-117673689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117662937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 322 (V322I)

Ref Sequence

ENSEMBL: ENSMUSP00000133782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037955] [ENSMUST00000173522] [ENSMUST00000174450]

AlphaFold

Q9D665

Predicted Effect

probably benign
Transcript: ENSMUST00000037955
AA Change: V322I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: V322I

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	9	241	4.2e-14	PFAM
Pfam:Polysacc_synt_2	11	129	7.1e-11	PFAM
Pfam:NAD_binding_10	11	239	3.3e-10	PFAM
Pfam:Epimerase	11	255	6.7e-29	PFAM
Pfam:3Beta_HSD	12	285	3.1e-69	PFAM
Pfam:NAD_binding_4	27	233	7.1e-14	PFAM
transmembrane domain	367	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173522
AA Change: V322I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: V322I

Domain	Start	End	E-Value	Type
Pfam:RmlD_sub_bind	9	208	2.4e-13	PFAM
Pfam:Polysacc_synt_2	11	129	5.2e-11	PFAM
Pfam:Epimerase	11	250	4.3e-28	PFAM
Pfam:GDP_Man_Dehyd	12	273	1.3e-9	PFAM
Pfam:3Beta_HSD	12	285	4.7e-69	PFAM
Pfam:NAD_binding_4	27	233	2.1e-11	PFAM
transmembrane domain	367	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174450

SMART Domains

Protein: ENSMUSP00000133837
Gene: ENSMUSG00000034308

Domain	Start	End	E-Value	Type
Pfam:adh_short	9	136	1.1e-6	PFAM
Pfam:RmlD_sub_bind	9	184	6.7e-15	PFAM
Pfam:Polysacc_synt_2	11	129	6e-12	PFAM
Pfam:Epimerase	11	176	1.8e-21	PFAM
Pfam:NAD_binding_10	11	189	4.8e-10	PFAM
Pfam:3Beta_HSD	12	189	5.4e-43	PFAM
Pfam:NAD_binding_4	25	186	6.6e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Sdr42e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Sdr42e1	APN	8	117663443	missense	probably damaging	1.00
PIT4581001:Sdr42e1	UTSW	8	117663518	missense	probably damaging	0.99
R0194:Sdr42e1	UTSW	8	117663109	missense	probably damaging	1.00
R1055:Sdr42e1	UTSW	8	117663584	missense	probably damaging	0.98
R2108:Sdr42e1	UTSW	8	117665024	missense	probably damaging	0.99
R2176:Sdr42e1	UTSW	8	117662877	missense	possibly damaging	0.63
R2907:Sdr42e1	UTSW	8	117662772	missense	probably damaging	0.99
R4551:Sdr42e1	UTSW	8	117663608	missense	probably benign	0.01
R4651:Sdr42e1	UTSW	8	117663621	missense	probably benign	0.01
R5148:Sdr42e1	UTSW	8	117663603	missense	probably damaging	1.00
R5240:Sdr42e1	UTSW	8	117663282	missense	probably benign	0.00
R6242:Sdr42e1	UTSW	8	117663197	missense	possibly damaging	0.87
R7417:Sdr42e1	UTSW	8	117662751	missense	probably benign	0.04
R7716:Sdr42e1	UTSW	8	117673647	start gained	probably benign
R7995:Sdr42e1	UTSW	8	117663268	missense	probably benign	0.00
R8255:Sdr42e1	UTSW	8	117663763	missense	probably benign	0.00
R9255:Sdr42e1	UTSW	8	117663260	missense	probably benign	0.01

Posted On

2013-12-09