Mutagenetix > Incidental Mutations

Incidental Mutation 'R1055:Sdr42e1'

94277

Institutional Source

Beutler Lab

Gene Symbol

Sdr42e1

Ensembl Gene

ENSMUSG00000034308

Gene Name

short chain dehydrogenase/reductase family 42E, member 1

Synonyms

MMRRC Submission

039145-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117661399-117673689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117663584 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 106 (N106T)

Ref Sequence

ENSEMBL: ENSMUSP00000133837 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037955
AA Change: N106T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: N106T

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: N106T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: N106T

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: N106T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133837
Gene: ENSMUSG00000034308
AA Change: N106T

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

Meta Mutation Damage Score

0.4568

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 63,973,275	V168A	possibly damaging	Het
A1cf	C	A	19: 31,932,519	T237N	probably benign	Het
Actl10	A	T	2: 154,552,668	Q180L	probably benign	Het
Adcy1	T	C	11: 7,109,075	L327P	probably damaging	Het
Adcy7	T	C	8: 88,318,057		probably benign	Het
Ahctf1	G	A	1: 179,763,486	T1243I	possibly damaging	Het
Akap6	C	T	12: 52,880,672	Q122*	probably null	Het
Apob	G	A	12: 7,994,963	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,717,118	T539P	probably benign	Het
Cd244	T	A	1: 171,577,276	V232E	probably damaging	Het
Chia1	A	C	3: 106,130,883	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,549,526	Q5*	probably null	Het
Clrn1	T	A	3: 58,865,110	I117F	probably benign	Het
Csmd3	A	G	15: 47,881,537	L1354P	probably damaging	Het
Csn2	G	A	5: 87,694,737	P144S	possibly damaging	Het
D17Wsu92e	T	C	17: 27,767,936	N272S	probably damaging	Het
Dcdc2a	T	A	13: 25,102,610	M172K	probably damaging	Het
Dnah9	A	T	11: 66,160,011	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,872,864	S82T	probably benign	Het
Ebf1	A	G	11: 44,632,775	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,827,211	R504S	probably damaging	Het
Gpank1	T	A	17: 35,124,308	S255T	probably damaging	Het
Greb1	T	C	12: 16,682,251	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,263,624	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,954,835	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Khdrbs2	A	T	1: 32,644,157		probably benign	Het
Lix1l	G	T	3: 96,621,310	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,778,151	N141S	probably damaging	Het
March11	A	T	15: 26,309,662	D134V	probably damaging	Het
Myo9a	A	T	9: 59,855,370	T795S	probably benign	Het
Nhsl1	T	A	10: 18,525,475	D782E	probably benign	Het
Nptxr	T	C	15: 79,790,255		probably benign	Het
Nrp1	A	G	8: 128,468,598	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1126	ATTGCTACTC	A	2: 87,457,437		probably benign	Het
Olfr1469	G	A	19: 13,411,390	A274T	probably benign	Het
Pard3	T	C	8: 127,378,280	F267S	probably benign	Het
Pomt2	G	A	12: 87,147,480	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,214,125	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,492,068	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,302,732	V591D	probably damaging	Het
Sall3	A	C	18: 80,969,792	M1143R	probably benign	Het
Scgb1b19	G	T	7: 33,287,343	A13S	unknown	Het
Scn1a	T	C	2: 66,337,996	T89A	probably benign	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Shpk	A	T	11: 73,215,119	M266L	probably benign	Het
Slc34a1	G	T	13: 55,403,033	R139L	probably benign	Het
Smbd1	C	A	16: 32,806,718	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,153,638	N238S	probably benign	Het
Tmprss2	T	C	16: 97,576,262	N212D	probably damaging	Het
Uap1	G	T	1: 170,156,911		probably benign	Het
Ugt1a6a	A	G	1: 88,139,014	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,474,327	W355*	probably null	Het
Vmn2r86	T	A	10: 130,446,357	S797C	probably damaging	Het
Wiz	A	G	17: 32,387,642	S40P	probably damaging	Het
Zfand6	A	G	7: 84,615,973		probably benign	Het
Zfp280d	G	A	9: 72,329,167		probably null	Het

Other mutations in Sdr42e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Sdr42e1	APN	8	117663443	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GACCTTCTTCTCTGCGATGGACTTG -3'
(R):5'- AGGAGCCCGTGTGATTCTGTTTGAC -3'

Sequencing Primer
(F):5'- CTTGGTCCTGGAGTAGTGATCC -3'
(R):5'- GTGATTCTGTTTGACATCACCCAAC -3'

Posted On

2014-01-05