Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Lyplal1'

273642

Institutional Source

Beutler Lab

Gene Symbol

Lyplal1

Ensembl Gene

ENSMUSG00000039246

Gene Name

lysophospholipase-like 1

Synonyms

Q96AVO

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

185819929-185849507 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 185820857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 197 (S197P)

Ref Sequence

ENSEMBL: ENSMUSP00000048229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045388]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045388
AA Change: S197P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048229
Gene: ENSMUSG00000039246
AA Change: S197P

Domain	Start	End	E-Value	Type
Pfam:Esterase	3	213	3.6e-8	PFAM
Pfam:Abhydrolase_2	11	230	1.5e-44	PFAM
Pfam:Abhydrolase_5	24	213	1.5e-13	PFAM
Pfam:Abhydrolase_3	89	167	1.5e-6	PFAM
Pfam:DLH	89	224	2.3e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195481

Meta Mutation Damage Score

0.2333

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,350 (GRCm39)	F6L	probably benign	Het
Aurkc	A	G	7: 7,003,029 (GRCm39)	I175V	probably damaging	Het
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bcat1	A	G	6: 144,965,068 (GRCm39)	V45A	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Ddx42	A	G	11: 106,122,019 (GRCm39)	E178G	possibly damaging	Het
Dmpk	T	C	7: 18,820,306 (GRCm39)	I101T	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Fosb	C	T	7: 19,040,557 (GRCm39)	R161H	probably damaging	Het
Gm6729	T	C	10: 86,376,582 (GRCm39)		noncoding transcript	Het
Gnb1	T	A	4: 155,639,483 (GRCm39)	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Ighe	G	A	12: 113,234,994 (GRCm39)	Q389*	probably null	Het
Kcnj11	T	C	7: 45,749,026 (GRCm39)	D23G	probably damaging	Het
Lats2	G	T	14: 57,959,923 (GRCm39)	A191E	possibly damaging	Het
Map4	G	T	9: 109,864,280 (GRCm39)	V502L	probably benign	Het
Mgat5	A	G	1: 127,312,571 (GRCm39)	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,193,510 (GRCm39)	R68G	probably benign	Het
Nell1	T	A	7: 49,907,927 (GRCm39)	V362E	possibly damaging	Het
Or5m8	T	A	2: 85,822,774 (GRCm39)	F204L	probably benign	Het
Or6c66b	T	A	10: 129,376,778 (GRCm39)	I124N	probably damaging	Het
P4ha2	T	C	11: 54,010,079 (GRCm39)	Y279H	probably benign	Het
Pcid2	A	G	8: 13,150,413 (GRCm39)	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,151,624 (GRCm39)	I116T	probably benign	Het
Prdm9	A	G	17: 15,783,207 (GRCm39)		probably benign	Het
Prr5	T	A	15: 84,587,345 (GRCm39)	V365E	probably benign	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sde2	T	A	1: 180,685,750 (GRCm39)	C101S	probably damaging	Het
Sec1	T	C	7: 45,328,663 (GRCm39)	H128R	probably damaging	Het
Serpinb6a	A	T	13: 34,102,764 (GRCm39)	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,263,973 (GRCm39)	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,882,879 (GRCm39)	K328N	probably benign	Het
Slc24a4	A	T	12: 102,200,951 (GRCm39)	K278N	probably benign	Het
Slc6a21	T	A	7: 44,930,266 (GRCm39)	W222R	probably damaging	Het
Slc7a2	A	G	8: 41,365,567 (GRCm39)	E466G	probably benign	Het
Sspo	A	G	6: 48,444,914 (GRCm39)	T2133A	possibly damaging	Het
Taco1	A	G	11: 105,963,364 (GRCm39)	M172V	probably benign	Het
Tmem127	T	A	2: 127,098,040 (GRCm39)	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Vac14	A	G	8: 111,397,722 (GRCm39)	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,534,667 (GRCm39)	K162I	probably benign	Het

Other mutations in Lyplal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0056:Lyplal1	UTSW	1	185,820,763 (GRCm39)	missense	probably benign	0.36
R0166:Lyplal1	UTSW	1	185,820,943 (GRCm39)	missense	probably benign	0.00
R1169:Lyplal1	UTSW	1	185,846,531 (GRCm39)	missense	probably benign	0.08
R1840:Lyplal1	UTSW	1	185,832,414 (GRCm39)	missense	probably damaging	1.00
R3499:Lyplal1	UTSW	1	185,820,857 (GRCm39)	missense	possibly damaging	0.95
R4128:Lyplal1	UTSW	1	185,821,736 (GRCm39)	missense	possibly damaging	0.94
R4613:Lyplal1	UTSW	1	185,820,949 (GRCm39)	missense	probably benign
R6447:Lyplal1	UTSW	1	185,821,639 (GRCm39)	critical splice donor site	probably null
R7102:Lyplal1	UTSW	1	185,832,524 (GRCm39)	missense	probably damaging	1.00
R9639:Lyplal1	UTSW	1	185,849,409 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAATATAGGGGCACGGGCTG -3'
(R):5'- GAACTAGGCATGGTCTTCTCC -3'

Sequencing Primer
(F):5'- GCACGGGCTGTTTCAAAAAC -3'
(R):5'- TCCGATTGACTGCCTAACTGGG -3'

Posted On

2015-04-02