Mutagenetix > Incidental Mutation

Incidental Mutation 'R2888:Llcfc1'

259992

Institutional Source

Beutler Lab

Gene Symbol

Llcfc1

Ensembl Gene

ENSMUSG00000029867

Gene Name

LLLL and CFNLAS motif containing 1

Synonyms

1700034O15Rik

MMRRC Submission

040476-MU

Accession Numbers

Essential gene?

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

Stock #

R2888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41661365-41662651 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41661537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 29 (K29M)

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

probably damaging
Transcript: ENSMUST00000031900
AA Change: K29M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031900
Gene: ENSMUSG00000029867
AA Change: K29M

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

Meta Mutation Damage Score

0.4283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 77,414,288 (GRCm39)	I338F	probably damaging	Het
Acd	A	G	8: 106,425,470 (GRCm39)	S288P	probably benign	Het
Aimp2	T	C	5: 143,846,553 (GRCm39)		probably benign	Het
Atp8b2	T	C	3: 89,865,600 (GRCm39)	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,258,968 (GRCm39)	I1226F	probably damaging	Het
Dsp	C	A	13: 38,376,224 (GRCm39)	N1336K	possibly damaging	Het
Extl2	T	C	3: 115,820,906 (GRCm39)	F251S	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Itpr2	C	T	6: 146,072,791 (GRCm39)	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,763,764 (GRCm39)	K762E	probably benign	Het
Krtap4-9	C	A	11: 99,676,245 (GRCm39)	C55*	probably null	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Malrd1	A	T	2: 16,079,568 (GRCm39)	I1762F	unknown	Het
Muc5b	G	A	7: 141,415,291 (GRCm39)	V2746M	probably damaging	Het
Mug1	T	A	6: 121,858,802 (GRCm39)	D1173E	probably benign	Het
Myo5b	G	C	18: 74,895,689 (GRCm39)	E1782Q	probably damaging	Het
Or2t46	T	C	11: 58,471,988 (GRCm39)	F106S	possibly damaging	Het
Pcdha5	A	G	18: 37,094,940 (GRCm39)	D483G	probably damaging	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,897,251 (GRCm39)	S103C	probably damaging	Het
Plekha4	C	T	7: 45,187,668 (GRCm39)	R176C	probably damaging	Het
Ppp1r3a	T	G	6: 14,718,248 (GRCm39)	S889R	possibly damaging	Het
Pramel23	G	T	4: 143,423,460 (GRCm39)	T443K	probably benign	Het
Prol1	C	A	5: 88,476,168 (GRCm39)	A186E	unknown	Het
Rbm39	C	T	2: 156,009,503 (GRCm39)	R123H	probably benign	Het
Rtn4	T	C	11: 29,643,687 (GRCm39)	S167P	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Smoc2	T	C	17: 14,617,887 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,798,664 (GRCm39)	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 51,242,577 (GRCm39)	E173D	probably damaging	Het
Tsc2	A	G	17: 24,850,969 (GRCm39)		probably null	Het
Umps	A	T	16: 33,784,240 (GRCm39)	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Wdfy4	C	A	14: 32,831,476 (GRCm39)	E917*	probably null	Het
Zfhx2	T	C	14: 55,302,260 (GRCm39)	K1908R	possibly damaging	Het
Zfp511	A	C	7: 139,619,295 (GRCm39)	D204A	probably benign	Het

Other mutations in Llcfc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01629:Llcfc1	APN	6	41,661,459 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGCAGCGATGTCATAGGAC -3'
(R):5'- ATGACCTAGTCTGCTGCTGG -3'

Sequencing Primer
(F):5'- CACATAGAATCAGAGGTCCTATGG -3'
(R):5'- CTGGAGCCTGATGTGAATCC -3'

Posted On

2015-01-23