Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02942:Larp7'

364553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Larp7

Ensembl Gene

ENSMUSG00000027968

Gene Name

La ribonucleoprotein 7, transcriptional regulator

Synonyms

D3Wsu161e, C330027G06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02942

Quality Score

Status

Chromosome

Chromosomal Location

127330363-127346998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127337844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 405 (I405N)

Ref Sequence

ENSEMBL: ENSMUSP00000029588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029588] [ENSMUST00000197668]

AlphaFold

Q05CL8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029588
AA Change: I405N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: I405N

Domain	Start	End	E-Value	Type
LA	26	106	1.29e-30	SMART
RRM	120	196	5.37e-15	SMART
low complexity region	210	226	N/A	INTRINSIC
low complexity region	257	273	N/A	INTRINSIC
low complexity region	302	311	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
Pfam:RRM_3	442	540	1.3e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197698

Predicted Effect

probably benign
Transcript: ENSMUST00000197668

SMART Domains

Protein: ENSMUSP00000143331
Gene: ENSMUSG00000027968

Domain	Start	End	E-Value	Type
LA	26	80	9.2e-10	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null mutation display complete perinatal lethality and a decrease in primordial germ cell number and proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	C	15: 91,033,378 (GRCm39)	D679E	probably damaging	Het
Adh6a	A	T	3: 138,030,642 (GRCm39)	D88V	probably damaging	Het
Ank3	G	A	10: 69,809,707 (GRCm39)	V1123I	probably damaging	Het
Apba1	T	C	19: 23,922,335 (GRCm39)	V801A	possibly damaging	Het
Bcl2a1a	C	T	9: 88,839,095 (GRCm39)		probably benign	Het
Brd8	A	G	18: 34,743,680 (GRCm39)	V215A	possibly damaging	Het
Cdk17	G	A	10: 93,074,830 (GRCm39)	V454I	probably benign	Het
Chd5	G	A	4: 152,470,182 (GRCm39)	G1876D	probably damaging	Het
Clec4g	T	C	8: 3,768,356 (GRCm39)	E125G	probably damaging	Het
Col24a1	G	A	3: 145,247,420 (GRCm39)	G1602D	probably damaging	Het
Depdc7	A	C	2: 104,558,439 (GRCm39)	L194R	probably damaging	Het
Dgke	T	G	11: 88,946,195 (GRCm39)	N202H	probably benign	Het
Dkk2	T	A	3: 131,883,798 (GRCm39)	C233S	probably damaging	Het
Dmpk	A	C	7: 18,826,166 (GRCm39)	D542A	probably damaging	Het
Epb41l4a	G	A	18: 34,007,254 (GRCm39)	R246W	probably damaging	Het
Frmpd1	A	T	4: 45,285,493 (GRCm39)	Q1438L	probably damaging	Het
Gcgr	A	G	11: 120,427,643 (GRCm39)		probably null	Het
Gm10295	T	C	7: 71,000,250 (GRCm39)	K110R	unknown	Het
Ifrd1	A	G	12: 40,267,375 (GRCm39)		probably null	Het
Inpp5f	A	G	7: 128,296,624 (GRCm39)	T365A	probably benign	Het
Kcnn3	A	G	3: 89,559,383 (GRCm39)	K551R	probably benign	Het
Lama2	A	T	10: 26,917,216 (GRCm39)	N2236K	probably damaging	Het
Meltf	C	A	16: 31,709,596 (GRCm39)	Y432*	probably null	Het
Mst1r	C	A	9: 107,790,352 (GRCm39)	T655K	possibly damaging	Het
Myh1	C	T	11: 67,093,308 (GRCm39)	P133L	probably damaging	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or52r1c	A	T	7: 102,735,405 (GRCm39)	M222L	probably benign	Het
Or5b102	A	T	19: 13,041,552 (GRCm39)	Q259L	probably benign	Het
Or6a2	A	G	7: 106,600,561 (GRCm39)	S169P	possibly damaging	Het
Pfkl	A	T	10: 77,835,967 (GRCm39)		probably null	Het
Plekhb2	T	C	1: 34,916,073 (GRCm39)	M204T	probably damaging	Het
Ptp4a2	G	A	4: 129,738,986 (GRCm39)		probably null	Het
Rtp4	A	G	16: 23,431,704 (GRCm39)	T79A	probably benign	Het
Senp3	T	C	11: 69,568,815 (GRCm39)	D410G	probably benign	Het
Slc16a5	T	C	11: 115,360,176 (GRCm39)	F120L	possibly damaging	Het
Snrpe	T	C	1: 133,536,669 (GRCm39)	E37G	probably damaging	Het
Sorcs1	T	C	19: 50,463,875 (GRCm39)	T192A	probably damaging	Het
Spef2	T	A	15: 9,668,960 (GRCm39)	H742L	possibly damaging	Het
Syt12	T	C	19: 4,497,858 (GRCm39)	S375G	probably benign	Het
Tas2r117	T	C	6: 132,780,657 (GRCm39)	L265P	probably benign	Het
Tcp10a	T	A	17: 7,597,318 (GRCm39)	D158E	probably damaging	Het
Tesk2	A	T	4: 116,629,017 (GRCm39)	H122L	probably damaging	Het
Tut7	T	G	13: 59,959,335 (GRCm39)	N378H	probably damaging	Het
Unc93b1	T	A	19: 3,998,686 (GRCm39)	M535K	probably damaging	Het
Vangl1	C	A	3: 102,091,347 (GRCm39)	R246S	probably damaging	Het
Xpo5	C	T	17: 46,519,059 (GRCm39)	T166I	probably damaging	Het
Zmiz2	T	C	11: 6,349,500 (GRCm39)		probably benign	Het

Other mutations in Larp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0358:Larp7	UTSW	3	127,340,737 (GRCm39)	critical splice donor site	probably null
R0601:Larp7	UTSW	3	127,337,858 (GRCm39)	missense	probably damaging	1.00
R0714:Larp7	UTSW	3	127,340,833 (GRCm39)	missense	probably damaging	0.99
R0765:Larp7	UTSW	3	127,339,814 (GRCm39)	missense	probably damaging	1.00
R0865:Larp7	UTSW	3	127,337,884 (GRCm39)	missense	probably damaging	0.99
R1902:Larp7	UTSW	3	127,334,227 (GRCm39)	missense	probably damaging	1.00
R2125:Larp7	UTSW	3	127,336,779 (GRCm39)	missense	probably benign
R3618:Larp7	UTSW	3	127,330,614 (GRCm39)	nonsense	probably null
R3721:Larp7	UTSW	3	127,340,460 (GRCm39)	missense	probably damaging	1.00
R4008:Larp7	UTSW	3	127,334,519 (GRCm39)	missense	probably benign	0.40
R4165:Larp7	UTSW	3	127,330,611 (GRCm39)	missense	probably benign	0.02
R4210:Larp7	UTSW	3	127,340,603 (GRCm39)	missense	probably benign	0.02
R4211:Larp7	UTSW	3	127,340,603 (GRCm39)	missense	probably benign	0.02
R4738:Larp7	UTSW	3	127,339,694 (GRCm39)	critical splice donor site	probably null
R5149:Larp7	UTSW	3	127,334,460 (GRCm39)	missense	probably damaging	0.99
R6703:Larp7	UTSW	3	127,337,873 (GRCm39)	missense	probably damaging	0.99
R6803:Larp7	UTSW	3	127,330,685 (GRCm39)	critical splice acceptor site	probably null
R7832:Larp7	UTSW	3	127,337,916 (GRCm39)	missense	possibly damaging	0.49
R9286:Larp7	UTSW	3	127,340,008 (GRCm39)	unclassified	probably benign
R9647:Larp7	UTSW	3	127,334,211 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18