Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4581001:Sdr42e1'

556505

Institutional Source

Beutler Lab

Gene Symbol

Sdr42e1

Ensembl Gene

ENSMUSG00000034308

Gene Name

short chain dehydrogenase/reductase family 42E, member 1

Synonyms

4632417N05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4581001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118388138-118400428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118390257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 128 (I128N)

Ref Sequence

ENSEMBL: ENSMUSP00000044457 (fasta)

Gene Model

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

AlphaFold

Q9D665

Predicted Effect

probably damaging
Transcript: ENSMUST00000037955
AA Change: I128N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044457
Gene: ENSMUSG00000034308
AA Change: I128N

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: I128N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133782
Gene: ENSMUSG00000034308
AA Change: I128N

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: I128N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133837
Gene: ENSMUSG00000034308
AA Change: I128N

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

1x: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,251,139 (GRCm39)	H522R	probably benign	Het
Adcy8	A	T	15: 64,626,666 (GRCm39)	I724N	probably damaging	Het
Cdk2ap1rt	A	G	11: 48,716,971 (GRCm39)	I69T	possibly damaging	Het
Cstdc6	T	C	16: 36,143,294 (GRCm39)	I52V	probably benign	Het
Ctsj	A	T	13: 61,150,370 (GRCm39)	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,442,652 (GRCm39)	E365G	probably damaging	Het
Dbi	A	T	1: 120,047,642 (GRCm39)	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,742,723 (GRCm39)	I153M	possibly damaging	Het
Dock10	C	A	1: 80,483,163 (GRCm39)	C2096F	probably damaging	Het
Eid3	T	A	10: 82,703,589 (GRCm39)	I350K	probably damaging	Het
Fam83b	A	T	9: 76,398,434 (GRCm39)	F890I	probably damaging	Het
Fras1	G	A	5: 96,703,160 (GRCm39)	D308N	probably benign	Het
Ftsj3	T	C	11: 106,140,302 (GRCm39)	D822G	unknown	Het
Gabra5	T	C	7: 57,138,605 (GRCm39)	T148A	probably damaging	Het
Gad1	A	G	2: 70,430,011 (GRCm39)	D526G	probably benign	Het
Gm21698	T	A	5: 26,192,350 (GRCm39)	T79S	probably benign	Het
Gon4l	T	G	3: 88,802,821 (GRCm39)	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,736,803 (GRCm39)	N32K	probably benign	Het
Islr	T	C	9: 58,064,484 (GRCm39)	N341S	possibly damaging	Het
Mybph	A	G	1: 134,122,479 (GRCm39)	T175A	probably benign	Het
Mycn	T	C	12: 12,990,244 (GRCm39)	K51E	possibly damaging	Het
Myh14	T	C	7: 44,262,906 (GRCm39)	N1763D	probably benign	Het
Myrip	T	C	9: 120,296,583 (GRCm39)	S831P	probably damaging	Het
Neb	G	T	2: 52,178,814 (GRCm39)	A1314E	probably damaging	Het
Notch2	T	C	3: 98,011,778 (GRCm39)	Y599H	probably damaging	Het
Npr1	C	A	3: 90,369,564 (GRCm39)	G387V	probably damaging	Het
Or6e1	T	A	14: 54,519,995 (GRCm39)	D119V	probably damaging	Het
Orai2	G	A	5: 136,179,364 (GRCm39)	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,829,910 (GRCm39)	E786G	probably benign	Het
Pde6b	A	G	5: 108,576,374 (GRCm39)	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,128,464 (GRCm39)	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,866,298 (GRCm39)		probably null	Het
Recql5	C	A	11: 115,823,682 (GRCm39)	K21N	possibly damaging	Het
Rimbp3	G	A	16: 17,028,580 (GRCm39)	S668N	possibly damaging	Het
Shprh	TAAAA	T	10: 11,068,238 (GRCm39)		probably null	Het
Slc15a2	A	T	16: 36,592,405 (GRCm39)	C251S	probably benign	Het
Slc17a4	A	T	13: 24,086,001 (GRCm39)	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501 (GRCm39)	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,148,701 (GRCm39)	S260R	probably benign	Het
Slco6d1	A	T	1: 98,351,050 (GRCm39)	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,020,417 (GRCm39)	V345A		Het
Tmod2	T	C	9: 75,504,583 (GRCm39)	Y12C	probably damaging	Het
Top2a	A	T	11: 98,893,790 (GRCm39)	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,618,974 (GRCm39)	S126P	probably benign	Het
Ttn	A	G	2: 76,564,305 (GRCm39)	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,299,858 (GRCm39)	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,411,348 (GRCm39)	K407*	probably null	Het
Vps13b	G	T	15: 35,534,409 (GRCm39)	W908C	probably damaging	Het
Ykt6	A	G	11: 5,912,747 (GRCm39)	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,319,265 (GRCm39)	Y254H	possibly damaging	Het
Zfp217	A	G	2: 169,956,503 (GRCm39)	S832P	probably benign	Het
Zfp595	A	G	13: 67,465,949 (GRCm39)	S108P	probably benign	Het
Zfp786	A	T	6: 47,796,756 (GRCm39)	F727L	probably damaging	Het
Zzef1	G	A	11: 72,790,498 (GRCm39)	V2151I	probably benign	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
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
R2176:Sdr42e1	UTSW	8	118,389,616 (GRCm39)	missense	possibly damaging	0.63
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'- CTCACTATCCTGGGAAGATGCC -3'
(R):5'- ATGCTGAGAAAGTTGCGTGC -3'

Sequencing Primer
(F):5'- TATCCTGGGAAGATGCCTCTGC -3'
(R):5'- AAAGTTGCGTGCGTGTTCCAC -3'

Posted On

2019-06-07