Mutagenetix > Incidental Mutation

Incidental Mutation 'R4039:Lyzl1'

313868

Institutional Source

Beutler Lab

Gene Symbol

Lyzl1

Ensembl Gene

ENSMUSG00000024233

Gene Name

lysozyme-like 1

Synonyms

1700038F02Rik

MMRRC Submission

041614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R4039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4165862-4182232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4169140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 48 (L48P)

Ref Sequence

ENSEMBL: ENSMUSP00000025076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025076] [ENSMUST00000120837]

AlphaFold

Q9CPX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025076
AA Change: L48P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025076
Gene: ENSMUSG00000024233
AA Change: L48P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LYZ1	20	146	1.13e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120837

SMART Domains

Protein: ENSMUSP00000113101
Gene: ENSMUSG00000024233

Domain	Start	End	E-Value	Type
LYZ1	1	97	3.89e-31	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

98% (48/49)

MGI Phenotype

PHENOTYPE: Female homozygous mutant mice exhibit a decreased mean heart rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	T	15: 59,888,215 (GRCm39)	L75Q	possibly damaging	Het
Cep290	T	C	10: 100,348,263 (GRCm39)		probably null	Het
Col11a2	A	G	17: 34,264,748 (GRCm39)	T268A	probably benign	Het
Crnkl1	T	A	2: 145,774,247 (GRCm39)	D72V	possibly damaging	Het
Csn2	C	T	5: 87,845,935 (GRCm39)	M1I	probably null	Het
Dhcr24	T	C	4: 106,431,075 (GRCm39)	F255L	probably benign	Het
Epn2	A	G	11: 61,437,348 (GRCm39)	Y75H	probably damaging	Het
Galnt3	A	T	2: 65,915,671 (GRCm39)	H563Q	probably damaging	Het
Galnt9	T	C	5: 110,762,074 (GRCm39)	V37A	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gorab	A	T	1: 163,224,635 (GRCm39)	D55E	possibly damaging	Het
Herc2	G	A	7: 55,806,159 (GRCm39)	R2318Q	probably damaging	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Hspb8	A	G	5: 116,547,403 (GRCm39)	V193A	probably benign	Het
Ly75	A	G	2: 60,183,339 (GRCm39)	L481P	probably damaging	Het
Mettl27	C	T	5: 134,969,463 (GRCm39)	Q212*	probably null	Het
Mmachc	T	A	4: 116,563,215 (GRCm39)	T47S	probably damaging	Het
Ncam2	C	T	16: 81,287,211 (GRCm39)	S375L	probably benign	Het
Ogfrl1	T	C	1: 23,418,045 (GRCm39)		probably benign	Het
Parp9	T	C	16: 35,780,417 (GRCm39)	L461P	probably damaging	Het
Pcsk7	A	G	9: 45,839,305 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,101,957 (GRCm39)	H342Q	probably benign	Het
Prdm13	T	G	4: 21,685,774 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,908,444 (GRCm39)	N144D	probably damaging	Het
Ptpn12	A	T	5: 21,207,508 (GRCm39)	Y283*	probably null	Het
Rab12	T	C	17: 66,807,396 (GRCm39)	Y111C	possibly damaging	Het
Ralgapa1	T	C	12: 55,842,486 (GRCm39)	N61S	probably damaging	Het
Rims1	T	C	1: 22,514,793 (GRCm39)	S537G	probably damaging	Het
Sash1	G	T	10: 8,605,391 (GRCm39)	P1000T	probably damaging	Het
Skint5	G	T	4: 113,743,011 (GRCm39)	T352K	unknown	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Sycp2	C	A	2: 178,022,720 (GRCm39)	M470I	possibly damaging	Het
Szt2	T	C	4: 118,222,149 (GRCm39)		probably benign	Het
Tbc1d1	A	G	5: 64,473,771 (GRCm39)	T765A	probably damaging	Het
Tgfbr2	T	C	9: 116,004,105 (GRCm39)	M1V	probably null	Het
Tnfrsf11a	A	G	1: 105,755,464 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,400 (GRCm39)	L111P	probably damaging	Het
Ttbk2	A	T	2: 120,576,276 (GRCm39)	S900R	probably benign	Het
Unc79	G	A	12: 103,041,208 (GRCm39)	C747Y	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,971 (GRCm39)	V26A	possibly damaging	Het
Vmn2r115	A	T	17: 23,564,077 (GRCm39)	Y83F	probably benign	Het
Zfp536	A	T	7: 37,268,975 (GRCm39)	L147Q	probably damaging	Het
Zfp931	T	A	2: 177,709,777 (GRCm39)	Q203L	possibly damaging	Het
Zswim2	G	A	2: 83,746,338 (GRCm39)	H367Y	probably damaging	Het

Other mutations in Lyzl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0390:Lyzl1	UTSW	18	4,169,175 (GRCm39)	missense	probably benign	0.01
R0580:Lyzl1	UTSW	18	4,181,134 (GRCm39)	missense	probably damaging	1.00
R1495:Lyzl1	UTSW	18	4,181,192 (GRCm39)	missense	probably null	1.00
R2207:Lyzl1	UTSW	18	4,181,962 (GRCm39)	nonsense	probably null
R5141:Lyzl1	UTSW	18	4,169,209 (GRCm39)	missense	possibly damaging	0.90
R5733:Lyzl1	UTSW	18	4,169,142 (GRCm39)	missense	probably damaging	1.00
R7605:Lyzl1	UTSW	18	4,169,244 (GRCm39)	missense	probably damaging	1.00
R9113:Lyzl1	UTSW	18	4,168,604 (GRCm39)	missense	probably null	1.00
Z1088:Lyzl1	UTSW	18	4,181,156 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGCTTCCTTCTCCACATGAG -3'
(R):5'- CTTTGCCCCTGAAGCAGATG -3'

Sequencing Primer
(F):5'- CCACATGAGATTCAGCTATTGGC -3'
(R):5'- TGGATCTGGGCAATCAGAAACAGTAC -3'

Posted On

2015-04-30