Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Lrrc39'

104989

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc39

Ensembl Gene

ENSMUSG00000027961

Gene Name

leucine rich repeat containing 39

Synonyms

2010005E21Rik, 9430028I06Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

116562973-116583134 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 116579497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029573] [ENSMUST00000041524] [ENSMUST00000183638] [ENSMUST00000184963]

AlphaFold

Q8BGI7

Predicted Effect

probably benign
Transcript: ENSMUST00000029573

SMART Domains

Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961

Domain	Start	End	E-Value	Type
LRR	105	127	1.15e1	SMART
LRR_TYP	128	151	7.26e-3	SMART
LRR	175	197	6.58e0	SMART
LRR	198	220	1e1	SMART
LRR	221	243	7.16e0	SMART
LRR	244	267	6.58e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041524

SMART Domains

Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	17	45	7.2e-17	PFAM
Pfam:zf-U11-48K	56	80	3.4e-12	PFAM
Pfam:TRM13	165	469	7e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156161

Predicted Effect

probably benign
Transcript: ENSMUST00000183638

SMART Domains

Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	1.4e-17	PFAM
Pfam:zf-U11-48K	55	81	1.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184963

SMART Domains

Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439

Domain	Start	End	E-Value	Type
Pfam:zf-TRM13_CCCH	16	46	2.9e-17	PFAM
Pfam:zf-U11-48K	55	81	2.3e-12	PFAM
Pfam:TRM13	165	285	3.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199439

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Lrrc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lrrc39	APN	3	116570981	splice site	probably benign
IGL01017:Lrrc39	APN	3	116570851	missense	probably benign	0.01
IGL01728:Lrrc39	APN	3	116579500	unclassified	probably benign
IGL02208:Lrrc39	APN	3	116578274	missense	probably damaging	1.00
IGL02801:Lrrc39	APN	3	116578346	missense	possibly damaging	0.89
R0279:Lrrc39	UTSW	3	116578303	missense	probably benign	0.19
R1351:Lrrc39	UTSW	3	116565820	missense	possibly damaging	0.51
R1436:Lrrc39	UTSW	3	116579644	splice site	probably null
R1641:Lrrc39	UTSW	3	116570913	missense	probably damaging	0.99
R1716:Lrrc39	UTSW	3	116579567	missense	probably benign	0.00
R2199:Lrrc39	UTSW	3	116570961	missense	probably damaging	0.97
R2410:Lrrc39	UTSW	3	116581250	missense	probably benign	0.02
R4696:Lrrc39	UTSW	3	116570120	missense	probably damaging	1.00
R4816:Lrrc39	UTSW	3	116568866	critical splice donor site	probably null
R5076:Lrrc39	UTSW	3	116579540	missense	probably benign	0.37
R6152:Lrrc39	UTSW	3	116570975	critical splice donor site	probably null
R7124:Lrrc39	UTSW	3	116565913	missense	probably benign
R8855:Lrrc39	UTSW	3	116570141	missense	probably damaging	1.00
R8866:Lrrc39	UTSW	3	116570141	missense	probably damaging	1.00
R8941:Lrrc39	UTSW	3	116565847	missense	probably damaging	0.98
X0028:Lrrc39	UTSW	3	116565871	missense	probably damaging	1.00

Posted On

2014-01-21