Mutagenetix > Incidental Mutation

Incidental Mutation 'R4041:Lrrn4cl'

313899

Institutional Source

Beutler Lab

Gene Symbol

Lrrn4cl

Ensembl Gene

ENSMUSG00000071656

Gene Name

LRRN4 C-terminal like

Synonyms

1110067I12Rik

MMRRC Submission

040966-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8828132-8831273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8829468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 149 (Y149N)

Ref Sequence

ENSEMBL: ENSMUSP00000093976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086058] [ENSMUST00000096257] [ENSMUST00000159634] [ENSMUST00000159653] [ENSMUST00000160556] [ENSMUST00000160897] [ENSMUST00000171649]

AlphaFold

Q3TYX2

Predicted Effect

probably benign
Transcript: ENSMUST00000086058

SMART Domains

Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096257
AA Change: Y149N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093976
Gene: ENSMUSG00000071656
AA Change: Y149N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
FN3	83	162	2.81e-5	SMART
transmembrane domain	194	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159571

Predicted Effect

probably benign
Transcript: ENSMUST00000159634

SMART Domains

Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159653

SMART Domains

Protein: ENSMUSP00000123920
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	1	97	1.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160556

SMART Domains

Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160897

SMART Domains

Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	97	208	2.8e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162071

Predicted Effect

probably benign
Transcript: ENSMUST00000171649

SMART Domains

Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	99	302	8.5e-66	PFAM
Blast:PAC	329	366	2e-6	BLAST
low complexity region	413	431	N/A	INTRINSIC

Meta Mutation Damage Score

0.9714

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf5	T	C	7: 44,462,921 (GRCm39)	T68A	possibly damaging	Het
Cage1	A	G	13: 38,203,153 (GRCm39)	L637P	possibly damaging	Het
Cfl1	T	C	19: 5,542,556 (GRCm39)	I12T	probably benign	Het
Clcn1	A	G	6: 42,286,902 (GRCm39)	E653G	probably damaging	Het
Cntnap5a	C	A	1: 116,112,129 (GRCm39)	P473Q	probably benign	Het
Dnah7b	T	C	1: 46,120,655 (GRCm39)	S91P	probably benign	Het
Fcgbp	A	G	7: 27,813,404 (GRCm39)	Q2313R	probably benign	Het
Gpc5	A	T	14: 115,370,628 (GRCm39)	Q151L	probably damaging	Het
Hexim1	A	G	11: 103,007,932 (GRCm39)	E62G	probably benign	Het
Ifna13	A	G	4: 88,562,228 (GRCm39)	F132S	probably benign	Het
Irgm2	A	G	11: 58,110,956 (GRCm39)	M228V	probably benign	Het
Klhl41	A	G	2: 69,501,054 (GRCm39)	M172V	probably benign	Het
Klk1	A	T	7: 43,878,986 (GRCm39)	N260I	probably damaging	Het
Krit1	G	C	5: 3,859,642 (GRCm39)	R110P	probably damaging	Het
Krt7	T	A	15: 101,321,161 (GRCm39)		probably null	Het
Ltbp3	G	T	19: 5,801,899 (GRCm39)	C739F	possibly damaging	Het
Mbnl2	C	T	14: 120,626,486 (GRCm39)	H239Y	probably damaging	Het
Obscn	G	A	11: 58,942,357 (GRCm39)	R4942*	probably null	Het
Or2bd2	T	C	7: 6,443,688 (GRCm39)	L263P	probably damaging	Het
R3hcc1	A	G	14: 69,944,111 (GRCm39)	S45P	probably damaging	Het
Ryr1	A	T	7: 28,785,356 (GRCm39)	H1778Q	possibly damaging	Het
Scyl2	T	A	10: 89,485,914 (GRCm39)	K558N	probably damaging	Het
Shank1	G	A	7: 43,991,586 (GRCm39)	V677M	unknown	Het
Slc39a5	T	C	10: 128,232,337 (GRCm39)	M488V	possibly damaging	Het
Styk1	A	T	6: 131,289,880 (GRCm39)		probably null	Het
Styxl2	T	C	1: 165,927,680 (GRCm39)	D644G	probably benign	Het
Usp32	A	G	11: 84,908,565 (GRCm39)	V1047A	probably benign	Het
Wnt3a	G	T	11: 59,140,470 (GRCm39)	H349N	probably damaging	Het
Zbtb39	T	C	10: 127,579,423 (GRCm39)	C666R	probably damaging	Het
Zfp420	T	C	7: 29,575,427 (GRCm39)	M549T	probably benign	Het

Other mutations in Lrrn4cl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1751:Lrrn4cl	UTSW	19	8,829,135 (GRCm39)	missense	probably benign	0.02
R1767:Lrrn4cl	UTSW	19	8,829,135 (GRCm39)	missense	probably benign	0.02
R4701:Lrrn4cl	UTSW	19	8,829,419 (GRCm39)	missense	probably damaging	0.99
R6154:Lrrn4cl	UTSW	19	8,829,252 (GRCm39)	missense	probably damaging	1.00
R6228:Lrrn4cl	UTSW	19	8,829,135 (GRCm39)	missense	probably benign	0.02
R9676:Lrrn4cl	UTSW	19	8,829,496 (GRCm39)	missense	probably benign	0.01
R9685:Lrrn4cl	UTSW	19	8,829,419 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCCAGGGAAGATCAACAGCC -3'
(R):5'- CTCACGAAGGCAGAAATGC -3'

Sequencing Primer
(F):5'- TCCTCGCCTGGGAGAAGTG -3'
(R):5'- AAACCAGGGCTGCACAG -3'

Posted On

2015-04-30