Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Sdr42e1'

236883

Institutional Source

Beutler Lab

Gene Symbol

Sdr42e1

Ensembl Gene

ENSMUSG00000034308

Gene Name

short chain dehydrogenase/reductase family 42E, member 1

Synonyms

4632417N05Rik

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118388138-118400428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118389616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 342 (F342I)

Ref Sequence

ENSEMBL: ENSMUSP00000133782 (fasta)

Gene Model

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

AlphaFold

Q9D665

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037955
AA Change: F342I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: F342I

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

possibly damaging
Transcript: ENSMUST00000173522
AA Change: F342I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: F342I

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

Meta Mutation Damage Score

0.1405

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,320,941 (GRCm39)	V171A	probably benign	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kcna10	T	C	3: 107,102,032 (GRCm39)	V221A	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Nvl	A	T	1: 180,962,639 (GRCm39)		probably benign	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or11h4	T	C	14: 50,973,681 (GRCm39)	M313V	probably benign	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zfp786	G	T	6: 47,797,905 (GRCm39)	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	probably damaging	Het

Other mutations in Sdr42e1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Sdr42e1	APN	8	118,390,182 (GRCm39)	missense	probably damaging	1.00
IGL01613:Sdr42e1	APN	8	118,389,676 (GRCm39)	missense	probably benign	0.14
PIT4581001:Sdr42e1	UTSW	8	118,390,257 (GRCm39)	missense	probably damaging	0.99
R0194:Sdr42e1	UTSW	8	118,389,848 (GRCm39)	missense	probably damaging	1.00
R1055:Sdr42e1	UTSW	8	118,390,323 (GRCm39)	missense	probably damaging	0.98
R2108:Sdr42e1	UTSW	8	118,391,763 (GRCm39)	missense	probably damaging	0.99
R2907:Sdr42e1	UTSW	8	118,389,511 (GRCm39)	missense	probably damaging	0.99
R4551:Sdr42e1	UTSW	8	118,390,347 (GRCm39)	missense	probably benign	0.01
R4651:Sdr42e1	UTSW	8	118,390,360 (GRCm39)	missense	probably benign	0.01
R5148:Sdr42e1	UTSW	8	118,390,342 (GRCm39)	missense	probably damaging	1.00
R5240:Sdr42e1	UTSW	8	118,390,021 (GRCm39)	missense	probably benign	0.00
R6242:Sdr42e1	UTSW	8	118,389,936 (GRCm39)	missense	possibly damaging	0.87
R7417:Sdr42e1	UTSW	8	118,389,490 (GRCm39)	missense	probably benign	0.04
R7716:Sdr42e1	UTSW	8	118,400,386 (GRCm39)	start gained	probably benign
R7995:Sdr42e1	UTSW	8	118,390,007 (GRCm39)	missense	probably benign	0.00
R8255:Sdr42e1	UTSW	8	118,390,502 (GRCm39)	missense	probably benign	0.00
R9255:Sdr42e1	UTSW	8	118,389,999 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTTTCCTCTTCATATGGACAGG -3'
(R):5'- GTTCTTTAGGCCACTGGTCG -3'

Sequencing Primer
(F):5'- CCTCTTCATATGGACAGGGTGGTG -3'
(R):5'- AGGGCCTGGGCTACACATTC -3'

Posted On

2014-10-02