Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Kdsr'

680407

Institutional Source

Beutler Lab

Gene Symbol

Kdsr

Ensembl Gene

ENSMUSG00000009905

Gene Name

3-ketodihydrosphingosine reductase

Synonyms

9430079B08Rik, 6330410P18Rik, Fvt1

MMRRC Submission

068709-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R8933 (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 106680949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000010049 (fasta)

Gene Model

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

AlphaFold

Q6GV12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010049
AA Change: D83G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000010049
Gene: ENSMUSG00000009905
AA Change: D83G

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,786 (GRCm39)	I1114N	probably damaging	Het
Ache	C	A	5: 137,288,449 (GRCm39)	R52S	possibly damaging	Het
AI182371	A	T	2: 34,975,714 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,406,325 (GRCm39)	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,218,845 (GRCm39)	N508S	probably damaging	Het
Aurkc	A	C	7: 7,005,796 (GRCm39)	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,325,848 (GRCm39)	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,562,369 (GRCm39)	T273A	probably damaging	Het
Cacnb1	T	C	11: 97,896,578 (GRCm39)	K406R	probably damaging	Het
Calcoco2	C	T	11: 95,998,252 (GRCm39)		probably benign	Het
Capza1	T	C	3: 104,748,209 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,251,265 (GRCm39)	I382F	probably damaging	Het
Cep350	A	T	1: 155,739,161 (GRCm39)	N2227K	probably benign	Het
Chia1	T	A	3: 106,036,333 (GRCm39)	Y304*	probably null	Het
Col5a2	G	A	1: 45,461,123 (GRCm39)	P258L		Het
Cyp21a1	A	G	17: 35,023,285 (GRCm39)	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,186,523 (GRCm39)	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,746,078 (GRCm39)	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,207,290 (GRCm39)	I301T	possibly damaging	Het
Dzip1	T	A	14: 119,144,326 (GRCm39)	H369L	probably damaging	Het
Fgfrl1	T	A	5: 108,851,257 (GRCm39)	M58K	probably damaging	Het
Ftsj3	G	T	11: 106,141,660 (GRCm39)	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861 (GRCm39)	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,634,706 (GRCm39)	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972 (GRCm39)	D53V	probably benign	Het
Ggps1	A	G	13: 14,228,928 (GRCm39)	V85A	probably benign	Het
Gm5141	C	T	13: 62,924,854 (GRCm39)	W18*	probably null	Het
Grik5	T	A	7: 24,722,743 (GRCm39)	T518S	probably benign	Het
Hapln3	A	T	7: 78,767,378 (GRCm39)		probably benign	Het
Hbs1l	C	T	10: 21,243,584 (GRCm39)	Q646*	probably null	Het
Hmox1	T	C	8: 75,823,644 (GRCm39)	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,571,413 (GRCm39)	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,920,131 (GRCm39)	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,923,524 (GRCm39)	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,148,333 (GRCm39)		probably null	Het
Ikbip	C	A	10: 90,919,092 (GRCm39)	A35E	probably benign	Het
Isca1	C	T	13: 59,917,497 (GRCm39)	A8T	probably damaging	Het
Itgb2	T	C	10: 77,401,022 (GRCm39)	L754P	probably damaging	Het
Itgb6	C	T	2: 60,458,247 (GRCm39)	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,577,092 (GRCm39)	V741A	probably benign	Het
Kiz	T	A	2: 146,784,037 (GRCm39)	N523K		Het
Kmt2a	T	C	9: 44,733,802 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,064 (GRCm39)	E191G	probably benign	Het
Lipn	A	G	19: 34,046,880 (GRCm39)	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,807,150 (GRCm39)		probably null	Het
Lrrc4c	A	G	2: 97,459,826 (GRCm39)	K151E	probably benign	Het
Mab21l3	T	C	3: 101,730,774 (GRCm39)	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,233,274 (GRCm39)	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,343,493 (GRCm39)	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,345,433 (GRCm39)	T65I	probably benign	Het
Nap1l1	T	C	10: 111,328,710 (GRCm39)	V213A	probably benign	Het
Nav2	A	G	7: 49,111,705 (GRCm39)	D737G	probably damaging	Het
Ndst4	T	A	3: 125,405,155 (GRCm39)	V470D	probably damaging	Het
Nek5	T	A	8: 22,601,226 (GRCm39)	Y165F	probably damaging	Het
Nek5	A	T	8: 22,610,859 (GRCm39)	V48E	probably damaging	Het
Nr6a1	T	C	2: 38,650,400 (GRCm39)	I77V	probably damaging	Het
Nvl	A	T	1: 180,966,638 (GRCm39)	D93E	probably benign	Het
Or11a4	C	A	17: 37,536,346 (GRCm39)	T110K	possibly damaging	Het
Or2q1	A	G	6: 42,794,950 (GRCm39)	T182A	probably benign	Het
Or52e5	A	G	7: 104,718,599 (GRCm39)		probably benign	Het
Or52k2	A	T	7: 102,253,637 (GRCm39)	L25F	probably damaging	Het
Or52p1	A	T	7: 104,266,873 (GRCm39)	T4S	probably benign	Het
Or6c68	A	T	10: 129,158,259 (GRCm39)	I256F	probably damaging	Het
Pla2g4c	G	A	7: 13,073,627 (GRCm39)	V225I	probably benign	Het
Plppr4	T	A	3: 117,116,690 (GRCm39)	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,727,671 (GRCm39)	R2051G	probably benign	Het
Rbm45	T	C	2: 76,209,068 (GRCm39)	S346P	probably damaging	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,724,091 (GRCm39)	G172R	probably benign	Het
Slco3a1	G	T	7: 73,934,248 (GRCm39)	Y641*	probably null	Het
Srcap	G	A	7: 127,151,566 (GRCm39)	R2027H	probably damaging	Het
Stra8	A	T	6: 34,904,624 (GRCm39)		probably benign	Het
Syt11	T	C	3: 88,655,011 (GRCm39)	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,615,800 (GRCm39)	V269G	possibly damaging	Het
Tead1	A	G	7: 112,497,818 (GRCm39)	N342S	probably benign	Het
Tenm3	C	T	8: 48,732,095 (GRCm39)	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,682,546 (GRCm39)	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258 (GRCm39)	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,510,307 (GRCm39)	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,708,691 (GRCm39)	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,709,231 (GRCm39)	R249*	probably null	Het
Vmn2r96	A	G	17: 18,804,241 (GRCm39)	Q497R	probably benign	Het
Vps39	A	G	2: 120,169,066 (GRCm39)	S292P	probably benign	Het
Wnk1	A	G	6: 120,013,959 (GRCm39)	V212A	probably damaging	Het
Xbp1	T	C	11: 5,474,741 (GRCm39)	V161A	probably benign	Het
Zfp113	T	C	5: 138,143,092 (GRCm39)	Q386R	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
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
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
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'- CCATCTGGTTTCTGTACAGAGAC -3'
(R):5'- ACTTACCTGGGCTCTTAGGTG -3'

Sequencing Primer
(F):5'- CTGTACAGAGACCTGAATTCTAGTC -3'
(R):5'- TACCTGGGCTCTTAGGTGTTTTGC -3'

Posted On

2021-08-31