Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01790:Lrcol1'

155178

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrcol1

Ensembl Gene

ENSMUSG00000072754

Gene Name

leucine rich colipase-like 1

Synonyms

Gm1679

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01790

Quality Score

Status

Chromosome

Chromosomal Location

110492596-110503960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110502073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 49 (S49G)

Ref Sequence

ENSEMBL: ENSMUSP00000139397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100924] [ENSMUST00000185691] [ENSMUST00000186408] [ENSMUST00000190963]

AlphaFold

Q3URS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000100924
AA Change: S10G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098484
Gene: ENSMUSG00000072754
AA Change: S10G

Domain	Start	End	E-Value	Type
Pfam:Colipase-like	1	44	5.1e-17	PFAM
Pfam:Colipase-like	27	116	8.6e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000185691
AA Change: S49G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139397
Gene: ENSMUSG00000072754
AA Change: S49G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Colipase-like	26	85	3.8e-19	PFAM
Pfam:Colipase-like	66	155	3.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190060

Predicted Effect

probably benign
Transcript: ENSMUST00000190963
AA Change: S10G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140133
Gene: ENSMUSG00000072754
AA Change: S10G

Domain	Start	End	E-Value	Type
Pfam:Colipase-like	1	67	1e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Astn1	T	C	1: 158,407,897 (GRCm39)	I618T	possibly damaging	Het
Bod1l	T	C	5: 41,989,593 (GRCm39)	S377G	probably benign	Het
Disp2	A	T	2: 118,621,361 (GRCm39)	S698C	probably damaging	Het
Ehbp1l1	A	G	19: 5,773,012 (GRCm39)	V43A	probably damaging	Het
Eml5	G	T	12: 98,765,191 (GRCm39)	T1539K	probably damaging	Het
Fmnl2	T	C	2: 53,008,380 (GRCm39)	I824T	probably damaging	Het
Gpr75	T	G	11: 30,841,132 (GRCm39)	N12K	probably damaging	Het
Hap1	C	T	11: 100,242,732 (GRCm39)		probably null	Het
Helz2	A	C	2: 180,880,274 (GRCm39)	Y481D	probably benign	Het
Klhl3	T	C	13: 58,157,236 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,992,560 (GRCm39)	M304T	probably damaging	Het
Med13l	T	C	5: 118,731,587 (GRCm39)	W88R	probably damaging	Het
Nfatc1	A	G	18: 80,710,257 (GRCm39)	V503A	probably damaging	Het
Ntm	C	A	9: 29,322,886 (GRCm39)	V45L	probably benign	Het
Or4c100	A	G	2: 88,356,767 (GRCm39)	N280S	probably damaging	Het
Or4f60	T	A	2: 111,902,266 (GRCm39)	I221L	probably benign	Het
Or4p22	T	A	2: 88,317,270 (GRCm39)	S65T	possibly damaging	Het
Or5b116	A	G	19: 13,422,526 (GRCm39)	D50G	probably damaging	Het
Or7a40	T	C	16: 16,490,967 (GRCm39)	R293G	probably damaging	Het
Pias4	T	C	10: 80,993,332 (GRCm39)	Q197R	probably damaging	Het
Pkhd1	T	A	1: 20,628,895 (GRCm39)	H684L	probably damaging	Het
Prr5	A	C	15: 84,651,415 (GRCm39)	I288L	possibly damaging	Het
Psmb3	T	A	11: 97,603,336 (GRCm39)	M183K	probably damaging	Het
Rasal1	T	C	5: 120,808,383 (GRCm39)	F472L	possibly damaging	Het
Rpl3	A	T	15: 79,964,061 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,113,256 (GRCm39)	D538E	probably benign	Het
Sdhb	T	C	4: 140,701,038 (GRCm39)	S165P	probably benign	Het
Slc43a2	C	A	11: 75,436,577 (GRCm39)		probably null	Het
Sparc	C	T	11: 55,298,041 (GRCm39)		probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tcf25	A	G	8: 124,119,975 (GRCm39)	E382G	possibly damaging	Het
Tmx3	G	A	18: 90,529,458 (GRCm39)		probably null	Het
Trim24	C	T	6: 37,922,548 (GRCm39)	P452S	probably benign	Het
Vsig10	T	A	5: 117,476,379 (GRCm39)	W278R	probably damaging	Het

Other mutations in Lrcol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Lrcol1	APN	5	110,502,444 (GRCm39)	missense	probably benign	0.28
IGL02635:Lrcol1	APN	5	110,502,459 (GRCm39)	missense	probably benign
R4829:Lrcol1	UTSW	5	110,502,393 (GRCm39)	missense	probably benign	0.44
R4927:Lrcol1	UTSW	5	110,502,163 (GRCm39)	splice site	probably null
R5246:Lrcol1	UTSW	5	110,502,377 (GRCm39)	missense	possibly damaging	0.53
R7912:Lrcol1	UTSW	5	110,502,715 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-02-04