Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Kdsr'

582369

Institutional Source

Beutler Lab

Gene Symbol

Kdsr

Ensembl Gene

ENSMUSG00000009905

Gene Name

3-ketodihydrosphingosine reductase

Synonyms

9430079B08Rik, 6330410P18Rik, Fvt1

MMRRC Submission

045588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106648189-106687457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106662290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 255 (V255A)

Ref Sequence

ENSEMBL: ENSMUSP00000010049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010049]

AlphaFold

Q6GV12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010049
AA Change: V255A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: V255A

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
Pfam:KR	33	214	9.4e-16	PFAM
Pfam:adh_short	33	232	1.1e-59	PFAM
Pfam:adh_short_C2	39	217	5.7e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Ccr2	T	C	9: 123,906,197 (GRCm39)	V159A	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah7c	T	C	1: 46,496,450 (GRCm39)	S112P	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptgis	T	A	2: 167,048,758 (GRCm39)	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rnf6	T	G	5: 146,148,602 (GRCm39)	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	probably damaging	Het

Other mutations in Kdsr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Kdsr	APN	1	106,683,187 (GRCm39)	missense	possibly damaging	0.91
IGL01375:Kdsr	APN	1	106,655,424 (GRCm39)	missense	probably benign	0.06
R0361:Kdsr	UTSW	1	106,675,517 (GRCm39)	missense	probably damaging	0.97
R1051:Kdsr	UTSW	1	106,675,310 (GRCm39)	nonsense	probably null
R1589:Kdsr	UTSW	1	106,662,271 (GRCm39)	splice site	probably null
R1679:Kdsr	UTSW	1	106,680,956 (GRCm39)	missense	probably benign	0.01
R4890:Kdsr	UTSW	1	106,680,964 (GRCm39)	missense	probably benign	0.21
R5392:Kdsr	UTSW	1	106,680,971 (GRCm39)	missense	possibly damaging	0.88
R5500:Kdsr	UTSW	1	106,687,374 (GRCm39)	unclassified	probably benign
R5830:Kdsr	UTSW	1	106,675,262 (GRCm39)	missense	possibly damaging	0.89
R5850:Kdsr	UTSW	1	106,683,172 (GRCm39)	critical splice donor site	probably null
R6005:Kdsr	UTSW	1	106,662,311 (GRCm39)	missense	probably benign	0.01
R7841:Kdsr	UTSW	1	106,671,415 (GRCm39)	missense	probably damaging	1.00
R8282:Kdsr	UTSW	1	106,652,727 (GRCm39)	missense	probably benign	0.03
R8312:Kdsr	UTSW	1	106,675,216 (GRCm39)	critical splice donor site	probably null
R8392:Kdsr	UTSW	1	106,671,583 (GRCm39)	missense	probably damaging	1.00
R8507:Kdsr	UTSW	1	106,671,400 (GRCm39)	missense	probably null	1.00
R8933:Kdsr	UTSW	1	106,680,949 (GRCm39)	missense	possibly damaging	0.70
R9531:Kdsr	UTSW	1	106,667,063 (GRCm39)	missense	probably damaging	0.99
R9740:Kdsr	UTSW	1	106,667,126 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CAGGTTAATGCTGAATCCACAGG -3'
(R):5'- ACACGCAGAGACTGACTTAG -3'

Sequencing Primer
(F):5'- CAGGAAGTGGGAGGAGGTTGTG -3'
(R):5'- CGCAGAGACTGACTTAGAATCTAGC -3'

Posted On

2019-10-17