Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02690:Larp7-ps'

303680

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Larp7-ps

Ensembl Gene

ENSMUSG00000066107

Gene Name

La ribonucleoprotein 7, transcriptional regulator, pseudogene

Synonyms

Gm12666

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

IGL02690

Quality Score

Status

Chromosome

Chromosomal Location

92078981-92079986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92079248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 191 (D191V)

Ref Sequence

ENSEMBL: ENSMUSP00000122212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123179]

AlphaFold

A2AMD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000123179
AA Change: D191V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: D191V

Domain	Start	End	E-Value	Type
RRM	3	73	9.8e-9	SMART
low complexity region	87	103	N/A	INTRINSIC
low complexity region	134	153	N/A	INTRINSIC
low complexity region	179	188	N/A	INTRINSIC
low complexity region	228	246	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,787,921 (GRCm39)	V896A	probably damaging	Het
Ahnak	C	A	19: 8,989,948 (GRCm39)	S3744*	probably null	Het
Aldh7a1	A	G	18: 56,661,427 (GRCm39)		probably benign	Het
Ankk1	T	A	9: 49,333,200 (GRCm39)	I95F	probably damaging	Het
Borcs8	C	A	8: 70,617,738 (GRCm39)	A32D	probably damaging	Het
Ccn3	A	G	15: 54,611,198 (GRCm39)	Y111C	probably damaging	Het
Cdh1	T	A	8: 107,384,516 (GRCm39)	I328N	probably damaging	Het
Cebpz	C	T	17: 79,229,986 (GRCm39)	D856N	probably damaging	Het
Clip2	T	A	5: 134,539,013 (GRCm39)		probably benign	Het
Dock7	C	A	4: 98,857,872 (GRCm39)	V1451F	possibly damaging	Het
Edem3	T	G	1: 151,680,550 (GRCm39)	C558W	probably damaging	Het
Eif3f	T	C	7: 108,533,925 (GRCm39)	V96A	probably damaging	Het
Gen1	A	G	12: 11,291,576 (GRCm39)	S738P	probably damaging	Het
Ipo8	A	T	6: 148,678,861 (GRCm39)	S912R	probably benign	Het
Kcp	G	T	6: 29,484,998 (GRCm39)		probably benign	Het
Lrrfip1	A	G	1: 90,981,383 (GRCm39)	T2A	probably damaging	Het
Lyst	A	G	13: 13,815,710 (GRCm39)	E1198G	possibly damaging	Het
Maml1	A	G	11: 50,149,457 (GRCm39)	L761P	probably damaging	Het
Mon2	T	A	10: 122,845,532 (GRCm39)	E1392V	possibly damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Or13c7b	G	A	4: 43,821,190 (GRCm39)	T57M	possibly damaging	Het
Or5k17	G	A	16: 58,746,214 (GRCm39)	T240I	possibly damaging	Het
Rag2	A	T	2: 101,459,839 (GRCm39)	I50L	probably benign	Het
Rasgrf2	T	C	13: 92,167,273 (GRCm39)	N267D	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rsc1a1	A	T	4: 141,412,612 (GRCm39)	V100D	probably damaging	Het
Rtp1	T	C	16: 23,250,132 (GRCm39)	Y166H	probably damaging	Het
Scly	A	T	1: 91,233,047 (GRCm39)	T109S	probably benign	Het
Scn8a	A	T	15: 100,868,135 (GRCm39)	S327C	probably damaging	Het
Sgsm1	T	C	5: 113,434,633 (GRCm39)		probably benign	Het
Slc4a9	A	G	18: 36,665,040 (GRCm39)	Y463C	probably damaging	Het
Speer1j	C	T	5: 11,555,228 (GRCm39)	Q66*	probably null	Het
Sptan1	A	G	2: 29,888,195 (GRCm39)	M936V	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tbx20	T	A	9: 24,685,033 (GRCm39)	N37Y	probably benign	Het
Tent4a	T	A	13: 69,658,744 (GRCm39)	M364L	probably benign	Het
Tex14	C	T	11: 87,377,100 (GRCm39)	T148I	probably benign	Het
Ubxn7	A	G	16: 32,200,423 (GRCm39)	E371G	probably benign	Het
Ugt2b35	T	C	5: 87,149,096 (GRCm39)	F116L	probably benign	Het
Vmn2r111	C	T	17: 22,778,023 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,003,091 (GRCm39)	L167P	probably benign	Het
Vps13b	T	C	15: 35,917,288 (GRCm39)	W3711R	probably damaging	Het
Wdr5	A	T	2: 27,424,840 (GRCm39)	T326S	probably benign	Het

Other mutations in Larp7-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Larp7-ps	APN	4	92,079,862 (GRCm39)	missense	probably damaging	0.98
IGL01670:Larp7-ps	APN	4	92,079,737 (GRCm39)	splice site	probably null
IGL03052:Larp7-ps	UTSW	4	92,079,287 (GRCm39)	missense	probably benign	0.01
R2094:Larp7-ps	UTSW	4	92,079,893 (GRCm39)	missense	probably damaging	1.00
R2567:Larp7-ps	UTSW	4	92,079,560 (GRCm39)	missense	probably benign	0.10
R3438:Larp7-ps	UTSW	4	92,079,919 (GRCm39)	missense	possibly damaging	0.94
R3439:Larp7-ps	UTSW	4	92,079,919 (GRCm39)	missense	possibly damaging	0.94
R4388:Larp7-ps	UTSW	4	92,079,351 (GRCm39)	missense	probably benign	0.00
R4710:Larp7-ps	UTSW	4	92,079,212 (GRCm39)	missense	possibly damaging	0.94
R5810:Larp7-ps	UTSW	4	92,079,820 (GRCm39)	critical splice donor site	probably null
R6969:Larp7-ps	UTSW	4	92,079,826 (GRCm39)	missense	probably damaging	1.00
R7486:Larp7-ps	UTSW	4	92,079,506 (GRCm39)	missense	probably benign	0.11
R9568:Larp7-ps	UTSW	4	92,079,915 (GRCm39)	nonsense	probably null
X0067:Larp7-ps	UTSW	4	92,079,571 (GRCm39)	splice site	probably null
Z1177:Larp7-ps	UTSW	4	92,079,940 (GRCm39)	missense	probably damaging	1.00
Z1177:Larp7-ps	UTSW	4	92,079,473 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-04-16