Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01568:Sdr42e1'

91044

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

117661399-117673689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117663443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 153 (Y153C)

Ref Sequence

ENSEMBL: ENSMUSP00000133837 (fasta)

Gene Model

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

AlphaFold

Q9D665

Predicted Effect

probably damaging
Transcript: ENSMUST00000037955
AA Change: Y153C

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

SMART Domains

Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: Y153C

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 damaging
Transcript: ENSMUST00000173522
AA Change: Y153C

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

SMART Domains

Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: Y153C

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 damaging
Transcript: ENSMUST00000174450
AA Change: Y153C

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

SMART Domains

Protein: ENSMUSP00000133837
Gene: ENSMUSG00000034308
AA Change: Y153C

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,573,698		probably benign	Het
Akap13	T	A	7: 75,608,522	L298*	probably null	Het
Capn15	G	T	17: 25,965,445	R21S	probably damaging	Het
Cbs	A	G	17: 31,621,514	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,652	I144T	probably benign	Het
Dok4	T	A	8: 94,866,802	I119F	probably benign	Het
Dpp9	T	C	17: 56,191,159	N599S	probably benign	Het
Ep400	T	C	5: 110,719,495	T984A	unknown	Het
Fcrls	T	C	3: 87,256,679	N381S	probably damaging	Het
Fhod3	A	G	18: 25,120,162	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,070,669	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,677,616	T46A	probably benign	Het
Gm3696	T	C	14: 7,089,819	N88S	probably benign	Het
Gm5277	A	G	3: 78,892,436		noncoding transcript	Het
Gpr153	C	A	4: 152,282,368		probably null	Het
Hgf	A	T	5: 16,564,814	K95N	probably damaging	Het
Igf2r	A	G	17: 12,683,985	S2393P	possibly damaging	Het
Ikbke	C	A	1: 131,257,896		probably null	Het
Il17re	G	T	6: 113,470,052	R588L	probably damaging	Het
Itch	T	C	2: 155,212,462		probably benign	Het
Krt2	T	A	15: 101,813,211	D465V	probably damaging	Het
Krt28	G	T	11: 99,371,417	P249Q	probably damaging	Het
Lax1	A	T	1: 133,680,300	D234E	probably benign	Het
Mtmr3	A	G	11: 4,527,861	I61T	probably damaging	Het
Naip5	G	T	13: 100,217,101	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,833,938	T466A	probably benign	Het
Olfr1350	A	T	7: 6,570,570	H193L	possibly damaging	Het
Olfr283	T	C	15: 98,378,906	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,302,001	V340A	possibly damaging	Het
Pclo	C	T	5: 14,678,429		probably benign	Het
Piezo2	C	T	18: 63,030,392	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,729,552		probably null	Het
Ptprs	G	A	17: 56,413,958	H1432Y	probably damaging	Het
Rars	A	G	11: 35,825,981		probably benign	Het
Scrn1	A	G	6: 54,522,754		probably benign	Het
Slc18a1	A	T	8: 69,065,626	S245R	probably damaging	Het
Tns1	T	G	1: 73,953,509	D670A	probably damaging	Het
Trim16	T	A	11: 62,820,858	D118E	probably benign	Het
Trpv1	A	G	11: 73,238,443	D62G	probably benign	Het
Tyr	A	G	7: 87,437,948	L452P	probably damaging	Het
Ubr4	T	C	4: 139,421,373	C1723R	probably damaging	Het
Uqcrb	G	A	13: 66,901,395		probably benign	Het
Vax2	G	T	6: 83,711,537	V81L	possibly damaging	Het
Zan	A	G	5: 137,464,844	V691A	unknown	Het
Zfp335	A	G	2: 164,894,788	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,024,132	P56S	probably damaging	Het

Other mutations in Sdr42e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Sdr42e1	APN	8	117662937	missense	probably benign	0.14
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