Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03052:Larp7-ps'

392168

Institutional Source

Beutler Lab

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 #

IGL03052 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

92078981-92079986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92079287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 178 (L178P)

Ref Sequence

ENSEMBL: ENSMUSP00000122212 (fasta)

Gene Model

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

AlphaFold

A2AMD0

Predicted Effect

probably benign
Transcript: ENSMUST00000123179
AA Change: L178P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: L178P

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	C	4: 155,987,815 (GRCm39)	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,881,894 (GRCm39)	V267A	probably benign	Het
Asap1	A	G	15: 64,025,683 (GRCm39)		probably benign	Het
Bcl6	T	C	16: 23,793,788 (GRCm39)		probably benign	Het
Ccdc73	C	A	2: 104,782,281 (GRCm39)	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,633 (GRCm39)	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,639,206 (GRCm39)	L238R	probably damaging	Het
Chl1	A	T	6: 103,668,628 (GRCm39)	T470S	probably benign	Het
Cnga4	T	C	7: 105,053,932 (GRCm39)	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,275,662 (GRCm39)	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,637,329 (GRCm39)	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,533,909 (GRCm39)	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,858,240 (GRCm39)	V164A	probably damaging	Het
Dnaaf8	A	T	16: 4,795,358 (GRCm39)		noncoding transcript	Het
Dnah7c	A	G	1: 46,671,309 (GRCm39)	Y1566C	probably damaging	Het
Dnase1l2	T	C	17: 24,659,968 (GRCm39)		probably benign	Het
Dock2	G	T	11: 34,182,853 (GRCm39)	N1593K	probably benign	Het
Dpp6	G	T	5: 27,914,506 (GRCm39)	M530I	probably benign	Het
Epm2a	T	C	10: 11,332,974 (GRCm39)	V269A	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fgf2	A	G	3: 37,403,161 (GRCm39)	S55G	probably benign	Het
Frem3	C	T	8: 81,341,159 (GRCm39)	P1151S	probably damaging	Het
Gm15737	T	C	6: 92,846,481 (GRCm39)		probably benign	Het
Gpi-ps	T	A	8: 5,689,816 (GRCm39)		noncoding transcript	Het
Gvin-ps6	T	C	7: 106,022,902 (GRCm39)		noncoding transcript	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,281,188 (GRCm39)	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,865,731 (GRCm39)	R8L	probably benign	Het
Mecom	C	T	3: 30,015,112 (GRCm39)		probably benign	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,293,341 (GRCm39)	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,876 (GRCm39)	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,159,798 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,173,442 (GRCm39)		probably benign	Het
Or52m2	C	T	7: 102,263,656 (GRCm39)	R180Q	probably benign	Het
Or5b124	T	C	19: 13,611,090 (GRCm39)	I205T	probably benign	Het
Or7g25	A	T	9: 19,159,938 (GRCm39)	Y252*	probably null	Het
Pcca	A	T	14: 123,124,513 (GRCm39)	M695L	probably benign	Het
Pcdha2	A	T	18: 37,074,670 (GRCm39)	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,459,189 (GRCm39)	D16N	probably benign	Het
Prr11	T	C	11: 86,994,478 (GRCm39)	N56S	possibly damaging	Het
Rxfp2	A	T	5: 149,966,645 (GRCm39)		probably benign	Het
Sacs	G	T	14: 61,445,307 (GRCm39)	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,371,163 (GRCm39)	A4V	probably damaging	Het
Scart2	G	A	7: 139,828,827 (GRCm39)	C162Y	probably damaging	Het
Sik3	C	A	9: 46,109,447 (GRCm39)	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,594,311 (GRCm39)	I59L	probably benign	Het
Sspo	G	A	6: 48,437,387 (GRCm39)	G1382R	probably damaging	Het
Stx16	C	A	2: 173,934,231 (GRCm39)	P145T	probably benign	Het
Tnrc18	G	A	5: 142,760,974 (GRCm39)	A674V	unknown	Het
Uqcrq	A	G	11: 53,321,476 (GRCm39)	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 86,652,799 (GRCm39)	E497V	probably benign	Het
Vps8	T	A	16: 21,267,115 (GRCm39)	I166K	probably damaging	Het
Vwa8	A	G	14: 79,302,361 (GRCm39)	D1010G	probably benign	Het
Wnk1	T	A	6: 119,921,760 (GRCm39)		probably benign	Het
Zfand3	T	A	17: 30,279,798 (GRCm39)	M29K	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
IGL02690:Larp7-ps	APN	4	92,079,248 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- TCTTCACCTTTGAGAGCGAG -3'
(R):5'- AGTGTGCAGGCCAAAGAGTC -3'

Sequencing Primer
(F):5'- TCACCTTTGAGAGCGAGTCACC -3'
(R):5'- CAGCTCGGGCGTGTGTAAAG -3'

Posted On

2016-06-09