Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Sdr39u1'

701895

Institutional Source

Beutler Lab

Gene Symbol

Sdr39u1

Ensembl Gene

ENSMUSG00000022223

Gene Name

short chain dehydrogenase/reductase family 39U, member 1

Synonyms

2310014G06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56134740-56137750 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56135209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 245 (V245F)

Ref Sequence

ENSEMBL: ENSMUSP00000106957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227032] [ENSMUST00000227211] [ENSMUST00000228462]

AlphaFold

Q5M8N4

Predicted Effect

probably benign
Transcript: ENSMUST00000022831

SMART Domains

Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153

Domain	Start	End	E-Value	Type
low complexity region	350	365	N/A	INTRINSIC
low complexity region	367	380	N/A	INTRINSIC
Pfam:RNase_Zc3h12a	429	582	1.9e-66	PFAM
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111325
AA Change: V245F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223
AA Change: V245F

Domain	Start	End	E-Value	Type
Pfam:Epimerase	3	216	2.7e-7	PFAM
Pfam:DUF1731	245	291	5.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226273

Predicted Effect

probably benign
Transcript: ENSMUST00000227032

Predicted Effect

probably benign
Transcript: ENSMUST00000227211

Predicted Effect

probably benign
Transcript: ENSMUST00000227387

Predicted Effect

probably benign
Transcript: ENSMUST00000228462

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	probably benign	Het

Other mutations in Sdr39u1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Sdr39u1	APN	14	56,135,463 (GRCm39)	missense	probably damaging	1.00
IGL02490:Sdr39u1	APN	14	56,135,798 (GRCm39)	missense	probably damaging	0.98
IGL03074:Sdr39u1	APN	14	56,137,103 (GRCm39)	critical splice donor site	probably null
R2240:Sdr39u1	UTSW	14	56,137,124 (GRCm39)	missense	probably damaging	1.00
R5822:Sdr39u1	UTSW	14	56,135,196 (GRCm39)	missense	probably benign	0.01
R5937:Sdr39u1	UTSW	14	56,135,364 (GRCm39)	missense	probably damaging	1.00
R6377:Sdr39u1	UTSW	14	56,135,166 (GRCm39)	missense	probably benign	0.00
R6620:Sdr39u1	UTSW	14	56,135,172 (GRCm39)	missense	probably damaging	1.00
R7685:Sdr39u1	UTSW	14	56,135,191 (GRCm39)	nonsense	probably null
R7710:Sdr39u1	UTSW	14	56,137,116 (GRCm39)	missense	probably benign	0.13
R7996:Sdr39u1	UTSW	14	56,135,344 (GRCm39)	nonsense	probably null
R8350:Sdr39u1	UTSW	14	56,135,363 (GRCm39)	missense	probably damaging	1.00
R8450:Sdr39u1	UTSW	14	56,135,363 (GRCm39)	missense	probably damaging	1.00
R8964:Sdr39u1	UTSW	14	56,135,170 (GRCm39)	missense	possibly damaging	0.54
R9766:Sdr39u1	UTSW	14	56,135,194 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGATCATCACCTGACCCACTTC -3'
(R):5'- GGTTCAGGTCGCCAATTCTTCC -3'

Sequencing Primer
(F):5'- TGACCCACTTCTCAGAGTGCG -3'
(R):5'- AATTCTTCCCCTGGATACACATTGG -3'

Posted On

2022-03-25