Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01629:Llcfc1'

92875

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Llcfc1

Ensembl Gene

ENSMUSG00000029867

Gene Name

LLLL and CFNLAS motif containing 1

Synonyms

1700034O15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL01629

Quality Score

Status

Chromosome

Chromosomal Location

41661365-41662651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41661459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 3 (S3Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031899] [ENSMUST00000031900] [ENSMUST00000031901] [ENSMUST00000193503] [ENSMUST00000194597]

AlphaFold

Q9D9P8

Predicted Effect

probably benign
Transcript: ENSMUST00000031899

SMART Domains

Protein: ENSMUSP00000031899
Gene: ENSMUSG00000029866

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
Pfam:Peptidase_M13_N	81	463	1.5e-68	PFAM
Pfam:Peptidase_M13	521	712	2.1e-58	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031900
AA Change: S3Y

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031900
Gene: ENSMUSG00000029867
AA Change: S3Y

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:DUF4717	37	107	7.8e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031901

SMART Domains

Protein: ENSMUSP00000031901
Gene: ENSMUSG00000036899

Domain	Start	End	E-Value	Type
Blast:ANK	38	68	1e-7	BLAST
ANK	72	102	2.3e0	SMART
ANK	110	139	4.56e-4	SMART
ANK	156	185	1.85e-4	SMART
Blast:ANK	189	217	3e-10	BLAST
ANK	232	261	3.07e2	SMART
Pfam:Ion_trans	321	583	1.8e-19	PFAM
low complexity region	676	691	N/A	INTRINSIC
low complexity region	708	719	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153760

Predicted Effect

probably benign
Transcript: ENSMUST00000192118

Predicted Effect

probably benign
Transcript: ENSMUST00000193503

SMART Domains

Protein: ENSMUSP00000141421
Gene: ENSMUSG00000036899

Domain	Start	End	E-Value	Type
Blast:ANK	38	68	1e-7	BLAST
ANK	72	102	1.5e-2	SMART
ANK	110	139	2.8e-6	SMART
ANK	156	185	1.2e-6	SMART
Blast:ANK	189	217	4e-10	BLAST
transmembrane domain	274	296	N/A	INTRINSIC
Pfam:Ion_trans	335	522	2.7e-12	PFAM
low complexity region	627	642	N/A	INTRINSIC
low complexity region	659	670	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194597

SMART Domains

Protein: ENSMUSP00000142058
Gene: ENSMUSG00000029866

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M13	16	68	3.6e-10	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Adm2	T	A	15: 89,207,605 (GRCm39)		probably null	Het
Alox12	G	A	11: 70,133,660 (GRCm39)	P555S	probably damaging	Het
Alpk2	A	G	18: 65,433,113 (GRCm39)	S1798P	probably damaging	Het
Amfr	T	A	8: 94,714,136 (GRCm39)		probably null	Het
Arhgef18	T	A	8: 3,431,942 (GRCm39)	C168S	possibly damaging	Het
Atxn7l3	A	T	11: 102,183,320 (GRCm39)		probably benign	Het
Ccdc191	A	G	16: 43,779,663 (GRCm39)	K707E	possibly damaging	Het
Cdc5l	G	T	17: 45,724,116 (GRCm39)	D391E	probably benign	Het
Cmtm2b	T	C	8: 105,056,420 (GRCm39)	S110P	possibly damaging	Het
Cyp2j8	T	C	4: 96,387,840 (GRCm39)	D207G	probably damaging	Het
Ddhd2	A	G	8: 26,225,855 (GRCm39)	F501L	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,014 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,014,277 (GRCm39)	V1823M	probably damaging	Het
Gjb4	T	C	4: 127,245,419 (GRCm39)	D174G	possibly damaging	Het
Gm45213	A	G	7: 65,711,962 (GRCm39)	D58G	probably damaging	Het
Hes1	C	T	16: 29,884,976 (GRCm39)		probably benign	Het
Krt33b	T	A	11: 99,920,386 (GRCm39)	Q89L	probably benign	Het
Ltf	A	G	9: 110,864,874 (GRCm39)	N569S	probably damaging	Het
Mknk1	T	A	4: 115,732,731 (GRCm39)	W320R	probably damaging	Het
Mrgprx3-ps	T	A	7: 46,959,353 (GRCm39)	K213*	probably null	Het
Mslnl	T	G	17: 25,963,749 (GRCm39)	V388G	possibly damaging	Het
Nfkb1	T	C	3: 135,307,228 (GRCm39)	I566V	probably benign	Het
Npy1r	G	A	8: 67,156,873 (GRCm39)	V98I	probably benign	Het
Phf1	G	T	17: 27,153,247 (GRCm39)	A22S	probably benign	Het
Plcg1	T	G	2: 160,599,930 (GRCm39)	F897V	possibly damaging	Het
Ric1	A	T	19: 29,581,381 (GRCm39)	E1367D	probably benign	Het
Slc24a3	T	C	2: 145,482,130 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,968,565 (GRCm39)		probably null	Het
Speer4a2	C	T	5: 26,290,700 (GRCm39)	S157N	probably damaging	Het
Spink5	T	C	18: 44,129,677 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,051,377 (GRCm39)	I4036V	possibly damaging	Het
Taok1	A	T	11: 77,429,030 (GRCm39)	M890K	possibly damaging	Het
Tenm2	A	T	11: 36,755,711 (GRCm39)	Y96N	probably damaging	Het
Ttll10	T	A	4: 156,131,351 (GRCm39)	T233S	probably benign	Het
Vps39	G	T	2: 120,154,079 (GRCm39)	L628M	probably benign	Het
Zfp563	G	A	17: 33,323,600 (GRCm39)	R105H	probably damaging	Het

Other mutations in Llcfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02936:Llcfc1	APN	6	41,661,593 (GRCm39)	missense	probably benign	0.23
Emaciated	UTSW	6	41,661,537 (GRCm39)	missense	probably damaging	0.98
gaunt	UTSW	6	41,662,310 (GRCm39)	missense	probably benign
R1482:Llcfc1	UTSW	6	41,662,218 (GRCm39)	missense	probably damaging	1.00
R2148:Llcfc1	UTSW	6	41,662,155 (GRCm39)	missense	possibly damaging	0.79
R2888:Llcfc1	UTSW	6	41,661,537 (GRCm39)	missense	probably damaging	0.98
R5053:Llcfc1	UTSW	6	41,662,269 (GRCm39)	missense	possibly damaging	0.93
R5106:Llcfc1	UTSW	6	41,662,310 (GRCm39)	missense	probably benign
R7149:Llcfc1	UTSW	6	41,662,251 (GRCm39)	missense	possibly damaging	0.88
R8909:Llcfc1	UTSW	6	41,661,525 (GRCm39)	missense	probably benign	0.12

Posted On

2013-12-09