Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Kdsr'

638228

Institutional Source

Beutler Lab

Gene Symbol

Kdsr

Ensembl Gene

ENSMUSG00000009905

Gene Name

3-ketodihydrosphingosine reductase

Synonyms

9430079B08Rik, 6330410P18Rik, Fvt1

MMRRC Submission

067705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106648189-106687457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106652727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 302 (T302A)

Ref Sequence

ENSEMBL: ENSMUSP00000010049 (fasta)

Gene Model

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

AlphaFold

Q6GV12

Predicted Effect

probably benign
Transcript: ENSMUST00000010049
AA Change: T302A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: T302A

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,337,906 (GRCm39)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,605,371 (GRCm39)	D721G	possibly damaging	Het
Allc	T	C	12: 28,607,356 (GRCm39)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,459,575 (GRCm39)		probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Brf2	G	T	8: 27,614,621 (GRCm39)	R30S		Het
Bsn	A	G	9: 107,984,890 (GRCm39)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces1d	A	T	8: 93,912,740 (GRCm39)	S233T	possibly damaging	Het
Chst15	T	A	7: 131,871,879 (GRCm39)	H134L	probably benign	Het
Col14a1	A	G	15: 55,284,276 (GRCm39)	T846A	unknown	Het
Cwh43	A	T	5: 73,591,572 (GRCm39)	D555V	probably damaging	Het
Cyld	C	A	8: 89,432,043 (GRCm39)	P14T	probably benign	Het
Dctn1	G	A	6: 83,176,738 (GRCm39)	R1264H	possibly damaging	Het
Dkk3	T	A	7: 111,717,489 (GRCm39)	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,879,005 (GRCm39)	H22P	unknown	Het
Duxf4	T	G	10: 58,072,148 (GRCm39)	Q22P	possibly damaging	Het
Fabp4	T	A	3: 10,270,342 (GRCm39)	T103S	probably benign	Het
Fam43a	T	C	16: 30,420,106 (GRCm39)	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fank1	T	A	7: 133,478,493 (GRCm39)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 57,044,555 (GRCm39)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 52,997,678 (GRCm39)		probably null	Het
Gli2	T	A	1: 118,765,701 (GRCm39)	S817C	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gstt2	C	G	10: 75,668,291 (GRCm39)	A155P	probably benign	Het
Ints9	T	A	14: 65,244,757 (GRCm39)	M213K	probably benign	Het
Jak1	G	A	4: 101,036,738 (GRCm39)	R301*	probably null	Het
Khsrp	T	C	17: 57,331,123 (GRCm39)	E460G	probably damaging	Het
Larp1b	G	A	3: 40,991,245 (GRCm39)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,324,560 (GRCm39)	K487R	probably damaging	Het
Niban2	A	G	2: 32,809,029 (GRCm39)	E205G	probably benign	Het
Nwd1	T	A	8: 73,431,580 (GRCm39)	S1193T	probably damaging	Het
Or10ag57	A	T	2: 87,218,852 (GRCm39)	T268S	probably benign	Het
Or5k3	T	A	16: 58,969,529 (GRCm39)	C105*	probably null	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,542,014 (GRCm39)	H636R	probably damaging	Het
Pdilt	A	G	7: 119,097,293 (GRCm39)	I266T	probably damaging	Het
Rell2	A	T	18: 38,090,665 (GRCm39)	Q114L	probably benign	Het
Rfc1	A	G	5: 65,426,289 (GRCm39)		probably null	Het
Rpia	T	C	6: 70,748,002 (GRCm39)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,723,645 (GRCm39)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,006,005 (GRCm39)		probably null	Het
Slc6a3	T	A	13: 73,705,200 (GRCm39)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Taf6l	A	G	19: 8,750,714 (GRCm39)	I120T	possibly damaging	Het
Tent5c	A	G	3: 100,380,327 (GRCm39)	V143A	probably damaging	Het
Trappc11	T	C	8: 47,969,624 (GRCm39)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,029,523 (GRCm39)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,402,440 (GRCm39)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,449,601 (GRCm39)	Y212*	probably null	Het
Vps54	T	A	11: 21,250,464 (GRCm39)		probably benign	Het
Zfp268	A	T	4: 145,349,547 (GRCm39)	D328V	possibly damaging	Het
Zfp648	T	A	1: 154,080,535 (GRCm39)	H231Q	probably benign	Het
Zscan4d	T	A	7: 10,896,369 (GRCm39)	T334S	possibly damaging	Het
Zswim9	T	C	7: 12,995,536 (GRCm39)	M207V	probably benign	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
R7515:Kdsr	UTSW	1	106,662,290 (GRCm39)	missense	possibly damaging	0.89
R7841:Kdsr	UTSW	1	106,671,415 (GRCm39)	missense	probably damaging	1.00
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'- GGGGTCCAATCTCACACATTC -3'
(R):5'- CCACTGTACAAAGCAGACGTATTC -3'

Sequencing Primer
(F):5'- TACAAAAGTCTGGAGGCCAAAACTTG -3'
(R):5'- ATTCTGTTCTTGAGAATTACTGGC -3'

Posted On

2020-07-28