Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02105:Larp4'

279954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Larp4

Ensembl Gene

ENSMUSG00000023025

Gene Name

La ribonucleoprotein domain family, member 4

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

99970065-100016358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99986071 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 63 (E63G)

Ref Sequence

ENSEMBL: ENSMUSP00000155529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]

Predicted Effect

probably benign
Transcript: ENSMUST00000057632
AA Change: E62G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: E62G

Domain	Start	End	E-Value	Type
LA	112	190	2.44e-40	SMART
RRM	195	265	3.28e-2	SMART
low complexity region	375	388	N/A	INTRINSIC
low complexity region	433	453	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100206
AA Change: E63G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: E63G

Domain	Start	End	E-Value	Type
LA	113	191	2.44e-40	SMART
RRM	196	266	3.28e-2	SMART
low complexity region	376	389	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	652	664	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229891

Predicted Effect

probably damaging
Transcript: ENSMUST00000230521
AA Change: E63G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230956
AA Change: E64G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231160
AA Change: E4G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,680,064	P734H	probably damaging	Het
Arfip2	A	T	7: 105,639,383	I14N	probably damaging	Het
Asap3	G	T	4: 136,228,474		probably null	Het
Atg2a	T	A	19: 6,250,403		probably benign	Het
Bbs12	T	C	3: 37,320,147	L248P	probably damaging	Het
Brd3	A	T	2: 27,459,776	I255N	probably damaging	Het
Ccdc141	A	G	2: 77,049,577		probably null	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd9	T	A	8: 90,932,488	D25E	probably damaging	Het
Cobl	T	C	11: 12,249,651	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,907,882	E1486V	unknown	Het
Dock2	T	C	11: 34,714,525	N256D	probably damaging	Het
Dpp3	G	A	19: 4,916,771	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,480,551	D35G	probably benign	Het
Fntb	A	G	12: 76,862,489	K84E	probably benign	Het
Gfi1	A	G	5: 107,723,722		probably null	Het
Glb1l3	T	A	9: 26,818,527	I516F	probably damaging	Het
Hltf	A	G	3: 20,092,757	N560S	probably damaging	Het
Kif21b	A	G	1: 136,171,303	N1443S	probably benign	Het
Knl1	T	A	2: 119,071,808	I1330K	probably benign	Het
Krt20	C	T	11: 99,438,001	V33M	probably benign	Het
Lao1	A	G	4: 118,968,443	T487A	probably damaging	Het
Lrp1	A	G	10: 127,544,579	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,570,257	I272M	probably benign	Het
Malrd1	A	T	2: 16,127,863	Q1865L	unknown	Het
Mtg1	T	C	7: 140,150,206	L305P	probably damaging	Het
Mylk4	T	A	13: 32,720,562	E427D	probably benign	Het
Myom1	G	T	17: 71,047,716		probably benign	Het
Nbeal1	A	G	1: 60,253,501	E1104G	probably damaging	Het
Obox5	A	G	7: 15,758,575	M152V	probably benign	Het
Olfm2	C	T	9: 20,672,180	V203M	probably damaging	Het
Olfr166	T	G	16: 19,487,261	L141R	probably benign	Het
Olfr876	A	T	9: 37,804,595	H228L	possibly damaging	Het
Pf4	A	G	5: 90,773,255	S105G	probably damaging	Het
Phlpp2	T	A	8: 109,904,408	I228N	probably damaging	Het
Sall1	T	G	8: 89,032,568	S303R	probably damaging	Het
Setd5	A	G	6: 113,117,580	E486G	probably damaging	Het
Slc9a5	C	T	8: 105,349,443	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,149,826	I390N	probably damaging	Het
Trp53	T	C	11: 69,588,503	V169A	probably damaging	Het
Usp4	A	G	9: 108,384,932	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,930,490	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,197,349		probably benign	Het
Xirp1	C	T	9: 120,016,997	G940E	probably damaging	Het
Zfp407	A	T	18: 84,562,720	C89*	probably null	Het

Other mutations in Larp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Larp4	APN	15	99987421	missense	probably damaging	0.98
IGL01668:Larp4	APN	15	99987474	missense	probably damaging	1.00
IGL01687:Larp4	APN	15	99996488	missense	probably damaging	1.00
IGL02676:Larp4	APN	15	99990421	missense	possibly damaging	0.94
IGL03286:Larp4	APN	15	99986086	missense	probably damaging	1.00
Skewer	UTSW	15	100007730	critical splice donor site	probably null
R1076:Larp4	UTSW	15	99997430	missense	probably benign	0.00
R1996:Larp4	UTSW	15	99984963	missense	probably damaging	1.00
R2183:Larp4	UTSW	15	100011897	missense	probably benign	0.16
R2260:Larp4	UTSW	15	99997396	missense	possibly damaging	0.95
R3777:Larp4	UTSW	15	99990357	missense	probably damaging	1.00
R3916:Larp4	UTSW	15	99990403	missense	probably benign	0.00
R3962:Larp4	UTSW	15	100012145	missense	probably damaging	1.00
R5059:Larp4	UTSW	15	100005290	missense	probably damaging	1.00
R5081:Larp4	UTSW	15	99973017	intron	probably benign
R5104:Larp4	UTSW	15	99986083	missense	probably damaging	1.00
R5409:Larp4	UTSW	15	99986064	missense	probably damaging	0.98
R5436:Larp4	UTSW	15	99986114	missense	probably damaging	0.98
R6895:Larp4	UTSW	15	100007730	critical splice donor site	probably null
R7316:Larp4	UTSW	15	100001017	missense	probably benign
R7483:Larp4	UTSW	15	99991778	missense	probably benign	0.01
R7510:Larp4	UTSW	15	99993377	missense	probably benign	0.07

Posted On

2015-04-16