Mutagenetix > Incidental Mutation

Incidental Mutation 'R8542:Sdr42e2'

659425

Institutional Source

Beutler Lab

Gene Symbol

Sdr42e2

Ensembl Gene

ENSMUSG00000109392

Gene Name

short chain dehydrogenase/reductase family 42E, member 2

Synonyms

Gm5737

MMRRC Submission

068507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R8542 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120411588-120430416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120417137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 194 (P194Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208668]

AlphaFold

A0A140LI11

Predicted Effect

probably damaging
Transcript: ENSMUST00000208668
AA Change: P194Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,634,369 (GRCm39)	T634A	probably benign	Het
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Alkbh1	A	G	12: 87,478,275 (GRCm39)	F212S	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Atp10b	A	G	11: 43,121,208 (GRCm39)	D957G	probably benign	Het
Bag6	G	A	17: 35,363,334 (GRCm39)	G725S	probably damaging	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Cilp	A	T	9: 65,185,405 (GRCm39)	D500V	probably damaging	Het
Col27a1	T	A	4: 63,239,662 (GRCm39)		probably null	Het
Defa3	T	A	8: 21,778,179 (GRCm39)		probably null	Het
Dst	C	T	1: 34,231,688 (GRCm39)	H3272Y	possibly damaging	Het
Egfl8	A	G	17: 34,833,243 (GRCm39)	C168R	probably damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm49368	T	C	7: 127,679,433 (GRCm39)	Y192H	probably damaging	Het
Ier5l	A	G	2: 30,362,948 (GRCm39)	I359T	possibly damaging	Het
Impg1	C	T	9: 80,312,080 (GRCm39)	E168K	probably damaging	Het
Iqcn	C	A	8: 71,166,520 (GRCm39)		probably null	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Klra3	A	T	6: 130,310,096 (GRCm39)		probably null	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Morc3	G	T	16: 93,644,319 (GRCm39)		probably null	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Ncam1	G	T	9: 49,419,898 (GRCm39)	T806K	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Or52m2	A	G	7: 102,263,872 (GRCm39)	V108A	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Pfkp	G	T	13: 6,631,557 (GRCm39)	A166E	possibly damaging	Het
Pnpt1	C	A	11: 29,082,773 (GRCm39)		probably null	Het
Prss40	A	G	1: 34,596,967 (GRCm39)	W76R	probably damaging	Het
Rbms1	A	C	2: 60,612,265 (GRCm39)	V165G	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
St6galnac6	T	A	2: 32,509,513 (GRCm39)	I305N	probably damaging	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tdrd6	T	C	17: 43,935,783 (GRCm39)	E1755G	probably damaging	Het
Tenm4	A	T	7: 96,461,139 (GRCm39)	D895V	probably damaging	Het
Tmem190	T	A	7: 4,787,157 (GRCm39)	C120*	probably null	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Usp20	T	G	2: 30,901,636 (GRCm39)	V467G	possibly damaging	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zfp629	C	A	7: 127,210,364 (GRCm39)	E482*	probably null	Het

Other mutations in Sdr42e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6726:Sdr42e2	UTSW	7	120,425,332 (GRCm39)	missense	probably damaging	0.97
R7147:Sdr42e2	UTSW	7	120,412,238 (GRCm39)	missense	probably damaging	0.98
R8350:Sdr42e2	UTSW	7	120,419,873 (GRCm39)	missense	probably damaging	1.00
R8354:Sdr42e2	UTSW	7	120,430,403 (GRCm39)	missense	possibly damaging	0.86
R8454:Sdr42e2	UTSW	7	120,430,403 (GRCm39)	missense	possibly damaging	0.86
R9655:Sdr42e2	UTSW	7	120,430,279 (GRCm39)	missense	probably benign	0.00
Z1177:Sdr42e2	UTSW	7	120,413,757 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGCCAGACATTGCAGAC -3'
(R):5'- GCTCTGAACACATTGAAGGAC -3'

Sequencing Primer
(F):5'- GACATTGCAGACCTGAGCCAG -3'
(R):5'- CTCTGAACACATTGAAGGACAAAGGC -3'

Posted On

2021-01-18