Mutagenetix > Incidental Mutation

Incidental Mutation 'R4211:Larp7'

319182

Institutional Source

Beutler Lab

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 #

R4211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127330363-127346998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127340603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 112 (R112S)

Ref Sequence

ENSEMBL: ENSMUSP00000029588 (fasta)

Gene Model

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

AlphaFold

Q05CL8

Predicted Effect

probably benign
Transcript: ENSMUST00000029588
AA Change: R112S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029588
Gene: ENSMUSG00000027968
AA Change: R112S

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Albfm1	T	G	5: 90,712,096 (GRCm39)	V63G	probably damaging	Het
Anapc5	T	C	5: 122,955,968 (GRCm39)	E154G	probably benign	Het
Anpep	A	T	7: 79,490,744 (GRCm39)	Y257*	probably null	Het
Atp8b1	A	T	18: 64,686,118 (GRCm39)	D688E	probably damaging	Het
Bub1b	C	A	2: 118,461,459 (GRCm39)	H670Q	possibly damaging	Het
Casp3	G	T	8: 47,088,423 (GRCm39)	D107Y	probably damaging	Het
Castor2	T	C	5: 134,154,783 (GRCm39)		probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cr2	A	C	1: 194,838,636 (GRCm39)	L671R	probably damaging	Het
Cttnbp2	A	G	6: 18,427,542 (GRCm39)	V713A	probably damaging	Het
Cyp4a31	T	C	4: 115,422,210 (GRCm39)	F65L	probably benign	Het
Dpysl2	T	C	14: 67,052,926 (GRCm39)	S308G	probably damaging	Het
Dusp22	A	T	13: 30,892,726 (GRCm39)	I168F	probably benign	Het
Ecel1	A	G	1: 87,079,872 (GRCm39)	S414P	probably damaging	Het
Fat2	A	G	11: 55,174,810 (GRCm39)	F1968L	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
H2-DMb1	T	A	17: 34,374,547 (GRCm39)	F66I	possibly damaging	Het
Hgf	T	C	5: 16,819,991 (GRCm39)	V574A	probably damaging	Het
Hoxa7	A	T	6: 52,193,605 (GRCm39)	Y137*	probably null	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Kmt2d	A	G	15: 98,738,070 (GRCm39)		probably benign	Het
Lepr	C	T	4: 101,590,611 (GRCm39)	A63V	probably benign	Het
Lmx1a	G	T	1: 167,660,428 (GRCm39)	V238L	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mcmbp	T	C	7: 128,317,729 (GRCm39)	E172G	possibly damaging	Het
Mcpt8	G	A	14: 56,321,375 (GRCm39)	H30Y	probably damaging	Het
Nek8	C	A	11: 78,061,309 (GRCm39)	V379L	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Pard6b	C	T	2: 167,940,943 (GRCm39)	A310V	probably benign	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Plch1	C	A	3: 63,618,640 (GRCm39)	D675Y	probably damaging	Het
Plk2	A	G	13: 110,532,871 (GRCm39)	H144R	probably damaging	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Smarcd2	T	A	11: 106,157,731 (GRCm39)	K138*	probably null	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tango6	A	G	8: 107,415,856 (GRCm39)	I226V	probably benign	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,864,588 (GRCm39)	A243E	probably damaging	Het
Tfpt	A	G	7: 3,623,386 (GRCm39)	Y240H	probably damaging	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Top3b	A	G	16: 16,700,396 (GRCm39)		probably null	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfyve1	A	T	12: 83,621,909 (GRCm39)	V162E	probably damaging	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
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
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'- CCCCAGTAGACTTGTAATGTGG -3'
(R):5'- AGCCAGAGCATTGAAAAGCTC -3'

Sequencing Primer
(F):5'- CCCAGTAGACTTGTAATGTGGAATAC -3'
(R):5'- GCCAGAGCATTGAAAAGCTCATCTG -3'

Posted On

2015-06-10