Mutagenetix > Incidental Mutation

Incidental Mutation 'R0714:Larp7'

85899

Institutional Source

Beutler Lab

Gene Symbol

Larp7

Ensembl Gene

ENSMUSG00000027968

Gene Name

La ribonucleoprotein 7, transcriptional regulator

Synonyms

D3Wsu161e, C330027G06Rik

MMRRC Submission

038897-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0714 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127330363-127346998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127340833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000029588 (fasta)

Gene Model

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

AlphaFold

Q05CL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029588
AA Change: D64G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: D64G

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

possibly damaging
Transcript: ENSMUST00000197668
AA Change: D64G

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143331
Gene: ENSMUSG00000027968
AA Change: D64G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197698

Meta Mutation Damage Score

0.8491

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	G	A	19: 21,655,973 (GRCm39)	R85H	probably damaging	Het
Adamts13	A	G	2: 26,876,997 (GRCm39)		probably benign	Het
Alb	T	C	5: 90,610,665 (GRCm39)	S82P	possibly damaging	Het
Arhgap10	G	A	8: 78,078,316 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,594,493 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,322,361 (GRCm39)	Q359L	probably benign	Het
Ccdc110	A	T	8: 46,396,047 (GRCm39)	D646V	possibly damaging	Het
Ccr2	G	A	9: 123,905,966 (GRCm39)	G82D	probably benign	Het
Col6a4	A	G	9: 105,895,102 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,064,499 (GRCm39)	V58A	possibly damaging	Het
Dhx35	C	A	2: 158,686,103 (GRCm39)	Q593K	probably benign	Het
Dmd	T	C	X: 83,353,503 (GRCm39)	L2240P	probably benign	Het
Emc7	A	G	2: 112,293,277 (GRCm39)	N162S	possibly damaging	Het
Exoc7	A	T	11: 116,184,120 (GRCm39)	N483K	probably benign	Het
Fbxo34	T	C	14: 47,767,486 (GRCm39)	V282A	probably damaging	Het
Fndc3c1	A	T	X: 105,468,972 (GRCm39)	Y1087*	probably null	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Lnx1	A	G	5: 74,768,570 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nckipsd	C	A	9: 108,691,333 (GRCm39)		probably benign	Het
Ndufab1	A	G	7: 121,695,960 (GRCm39)		probably benign	Het
Nedd4	G	A	9: 72,638,728 (GRCm39)		probably benign	Het
Nrsn2	G	A	2: 152,216,042 (GRCm39)	R54*	probably null	Het
Nt5dc3	T	A	10: 86,648,238 (GRCm39)	V171E	probably damaging	Het
Nudt8	A	G	19: 4,052,023 (GRCm39)	*211W	probably null	Het
Nxph4	A	G	10: 127,362,808 (GRCm39)	S28P	probably damaging	Het
Or4f14b	A	G	2: 111,774,898 (GRCm39)	V301A	probably benign	Het
Or8k17	A	C	2: 86,066,498 (GRCm39)	L227R	probably damaging	Het
Or9g4b	A	G	2: 85,616,743 (GRCm39)	D296G	probably damaging	Het
Pcdhb15	A	G	18: 37,607,674 (GRCm39)	Y302C	probably damaging	Het
Pkdrej	A	G	15: 85,699,712 (GRCm39)	S2075P	possibly damaging	Het
Sdhc	A	T	1: 170,957,488 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,358 (GRCm39)		probably benign	Het
Sik2	T	C	9: 50,818,736 (GRCm39)	M413V	probably benign	Het
Slc5a4b	A	G	10: 75,917,341 (GRCm39)	F232L	probably benign	Het
Slx1b	A	T	7: 126,291,620 (GRCm39)	I148N	probably damaging	Het
Spag17	C	G	3: 99,987,472 (GRCm39)	S1587R	probably damaging	Het
St13	T	C	15: 81,267,228 (GRCm39)	D74G	probably benign	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tacc3	T	C	5: 33,828,741 (GRCm39)		probably benign	Het
Tbx22	G	A	X: 106,728,731 (GRCm39)	V421I	probably benign	Het
Tmc3	G	A	7: 83,265,969 (GRCm39)	A705T	possibly damaging	Het
Tmem130	C	T	5: 144,674,619 (GRCm39)	V369M	probably damaging	Het
Tonsl	T	C	15: 76,517,921 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,815,451 (GRCm39)	I1179N	possibly damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Utp23	T	G	15: 51,745,665 (GRCm39)	V55G	possibly damaging	Het
Vps11	A	G	9: 44,270,953 (GRCm39)	V143A	possibly damaging	Het
Vps50	G	T	6: 3,571,105 (GRCm39)	V618F	probably benign	Het

Other mutations in Larp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02942:Larp7	APN	3	127,337,844 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CTTTTCAGGGTCCCACAGAAGTACG -3'
(R):5'- ACAAGGACAAGTTTCTGCGAGAGC -3'

Sequencing Primer
(F):5'- GATCCCCAGTAGACTTGTAATGTG -3'
(R):5'- CAAGTTTCTGCGAGAGCAAATTG -3'

Posted On

2013-11-18