Mutagenetix > Incidental Mutation

Incidental Mutation 'R3438:Larp7-ps'

267274

Institutional Source

Beutler Lab

Gene Symbol

Larp7-ps

Ensembl Gene

ENSMUSG00000066107

Gene Name

La ribonucleoprotein 7, transcriptional regulator, pseudogene

Synonyms

Gm12666

MMRRC Submission

040656-MU

Accession Numbers

Essential gene?

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

Stock #

R3438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92078981-92079986 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 92079919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 23 (V23G)

Ref Sequence

ENSEMBL: ENSMUSP00000122212 (fasta)

Gene Model

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

AlphaFold

A2AMD0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123179
AA Change: V23G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: V23G

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

0.4212

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017G19Rik	A	G	3: 40,575,673 (GRCm39)		noncoding transcript	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ampd3	T	C	7: 110,402,433 (GRCm39)	I479T	probably damaging	Het
Aoah	G	A	13: 21,101,242 (GRCm39)	R254K	probably benign	Het
Appbp2	T	C	11: 85,088,966 (GRCm39)	E358G	probably damaging	Het
Col6a5	A	G	9: 105,752,991 (GRCm39)	S2294P	possibly damaging	Het
Cux1	T	C	5: 136,340,414 (GRCm39)	E632G	probably damaging	Het
Cyp7a1	T	C	4: 6,272,769 (GRCm39)	N148S	probably damaging	Het
Dgkz	A	T	2: 91,764,395 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 70,823,356 (GRCm39)	S114C	probably damaging	Het
Dmtn	T	A	14: 70,850,156 (GRCm39)	I263F	probably damaging	Het
Gigyf2	C	A	1: 87,368,302 (GRCm39)	H1029N	probably damaging	Het
Gm10770	T	A	2: 150,021,469 (GRCm39)		probably null	Het
Gnb1l	A	G	16: 18,371,117 (GRCm39)	T203A	probably benign	Het
Kng2	T	C	16: 22,830,821 (GRCm39)	I163V	probably benign	Het
Lamc1	T	C	1: 153,102,161 (GRCm39)	D1479G	probably benign	Het
Lhx4	T	A	1: 155,578,230 (GRCm39)	D304V	probably benign	Het
Mybl1	G	T	1: 9,757,870 (GRCm39)	T143K	probably damaging	Het
Notch3	C	T	17: 32,372,564 (GRCm39)	C630Y	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c114	T	C	2: 88,904,707 (GRCm39)	I243V	probably benign	Het
Or8b55	T	G	9: 38,727,512 (GRCm39)	F238V	probably damaging	Het
Or9e1	G	T	11: 58,732,698 (GRCm39)	G253*	probably null	Het
Otoa	A	G	7: 120,759,566 (GRCm39)	E1056G	possibly damaging	Het
Plin4	A	G	17: 56,414,193 (GRCm39)	V144A	probably benign	Het
Sec16b	T	C	1: 157,384,328 (GRCm39)		probably benign	Het
Stk31	A	G	6: 49,414,455 (GRCm39)	S485G	probably benign	Het
Tanc2	C	T	11: 105,748,401 (GRCm39)	P511L	probably damaging	Het
Utrn	T	C	10: 12,357,062 (GRCm39)	D309G	probably damaging	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vsx2	A	T	12: 84,616,985 (GRCm39)	Q90L	probably damaging	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
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
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'- GAATTTGTTACTCTTGCTAACCCTGTG -3'
(R):5'- AGTTACACACAGTTATTGCCACC -3'

Sequencing Primer
(F):5'- ACTCTTGCTAACCCTGTGCTTTTTC -3'
(R):5'- AGGAGTTGCTCCCCAAAA -3'

Posted On

2015-02-18