Mutagenetix > Incidental Mutation

Incidental Mutation 'R3962:Larp4'

312146

Institutional Source

Beutler Lab

Gene Symbol

Larp4

Ensembl Gene

ENSMUSG00000023025

Gene Name

La ribonucleoprotein 4

Synonyms

D330037H05Rik

MMRRC Submission

040837-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R3962 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

99867946-99914239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99910026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 652 (Q652K)

Ref Sequence

ENSEMBL: ENSMUSP00000155661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057632] [ENSMUST00000100206] [ENSMUST00000230521] [ENSMUST00000230956] [ENSMUST00000231160]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057632
AA Change: Q710K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: Q710K

Domain	Start	End	E-Value	Type
LA	112	190	2.44e-40	SMART
RRM	195	265	3.28e-2	SMART
low complexity region	375	388	N/A	INTRINSIC
low complexity region	433	453	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100206
AA Change: Q711K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: Q711K

Domain	Start	End	E-Value	Type
LA	113	191	2.44e-40	SMART
RRM	196	266	3.28e-2	SMART
low complexity region	376	389	N/A	INTRINSIC
low complexity region	434	454	N/A	INTRINSIC
low complexity region	458	471	N/A	INTRINSIC
low complexity region	652	664	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000230521

Predicted Effect

probably benign
Transcript: ENSMUST00000230956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231128

Predicted Effect

probably damaging
Transcript: ENSMUST00000231160
AA Change: Q652K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.3331

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abca12	A	T	1: 71,313,674 (GRCm39)		probably null	Het
Ablim2	C	T	5: 35,969,519 (GRCm39)	R211C	probably damaging	Het
Actn4	C	A	7: 28,597,647 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Bod1l	T	G	5: 41,966,064 (GRCm39)	E2667A	probably benign	Het
Ccdc13	G	A	9: 121,628,005 (GRCm39)		probably benign	Het
Ccdc15	G	T	9: 37,231,782 (GRCm39)	R181S	probably damaging	Het
Ccnd1	G	A	7: 144,487,787 (GRCm39)	T230M	probably damaging	Het
Cdcp1	T	C	9: 123,011,446 (GRCm39)	T344A	possibly damaging	Het
Fam161a	T	C	11: 22,973,507 (GRCm39)	M275T	possibly damaging	Het
Fbxo15	A	G	18: 84,977,372 (GRCm39)	T95A	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Galk2	A	T	2: 125,735,293 (GRCm39)	N107I	probably benign	Het
Glmn	A	T	5: 107,708,911 (GRCm39)		probably benign	Het
Gm5082	T	C	13: 41,809,894 (GRCm39)		noncoding transcript	Het
Gm5828	C	T	1: 16,838,868 (GRCm39)		noncoding transcript	Het
Haus6	C	T	4: 86,530,041 (GRCm39)	A4T	possibly damaging	Het
Hmgcs2	G	A	3: 98,198,354 (GRCm39)	V86M	possibly damaging	Het
Hrg	G	A	16: 22,774,825 (GRCm39)	V152I	possibly damaging	Het
Itga2	A	T	13: 114,976,054 (GRCm39)	V1106E	probably damaging	Het
Itga9	G	A	9: 118,457,254 (GRCm39)	D122N	possibly damaging	Het
Kif21a	T	A	15: 90,869,612 (GRCm39)	E413V	probably damaging	Het
Klk1	A	G	7: 43,878,973 (GRCm39)	T256A	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Moxd2	T	A	6: 40,862,331 (GRCm39)	M163L	probably benign	Het
Myo15a	G	A	11: 60,370,654 (GRCm39)	R1138H	probably benign	Het
Oasl2	A	G	5: 115,035,808 (GRCm39)	D28G	probably benign	Het
Or6c207	A	T	10: 129,104,535 (GRCm39)	I219N	probably damaging	Het
Platr26	A	T	2: 71,549,849 (GRCm39)		noncoding transcript	Het
Ptdss1	A	G	13: 67,142,075 (GRCm39)	H411R	probably benign	Het
Ptpra	A	G	2: 30,325,672 (GRCm39)	T147A	probably damaging	Het
Rfx2	T	C	17: 57,092,302 (GRCm39)	Y307C	probably damaging	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Shisa6	A	G	11: 66,108,302 (GRCm39)	V525A	probably damaging	Het
Slc4a3	A	G	1: 75,533,398 (GRCm39)	S1007G	probably damaging	Het
Spmip5	A	G	19: 58,777,541 (GRCm39)	Y82H	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Taar8a	A	G	10: 23,953,054 (GRCm39)	I219M	probably damaging	Het
Tars2	A	G	3: 95,662,068 (GRCm39)		probably null	Het
Tfap2d	A	G	1: 19,189,189 (GRCm39)	N245S	probably damaging	Het
Tlr6	T	A	5: 65,112,328 (GRCm39)	H193L	probably benign	Het
Tomm20l	T	C	12: 71,164,352 (GRCm39)	V78A	probably benign	Het
Tsc2	G	A	17: 24,840,140 (GRCm39)		probably benign	Het
Usp2	A	G	9: 43,986,954 (GRCm39)	D84G	possibly damaging	Het
V1ra8	A	G	6: 90,180,466 (GRCm39)	N223S	probably benign	Het
Wnk2	C	A	13: 49,224,453 (GRCm39)	R1122L	probably damaging	Het

Other mutations in Larp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Larp4	APN	15	99,885,302 (GRCm39)	missense	probably damaging	0.98
IGL01668:Larp4	APN	15	99,885,355 (GRCm39)	missense	probably damaging	1.00
IGL01687:Larp4	APN	15	99,894,369 (GRCm39)	missense	probably damaging	1.00
IGL02105:Larp4	APN	15	99,883,952 (GRCm39)	missense	probably damaging	1.00
IGL02676:Larp4	APN	15	99,888,302 (GRCm39)	missense	possibly damaging	0.94
IGL03286:Larp4	APN	15	99,883,967 (GRCm39)	missense	probably damaging	1.00
Skewer	UTSW	15	99,905,611 (GRCm39)	critical splice donor site	probably null
R1076:Larp4	UTSW	15	99,895,311 (GRCm39)	missense	probably benign	0.00
R1996:Larp4	UTSW	15	99,882,844 (GRCm39)	missense	probably damaging	1.00
R2183:Larp4	UTSW	15	99,909,778 (GRCm39)	missense	probably benign	0.16
R2260:Larp4	UTSW	15	99,895,277 (GRCm39)	missense	possibly damaging	0.95
R3777:Larp4	UTSW	15	99,888,238 (GRCm39)	missense	probably damaging	1.00
R3916:Larp4	UTSW	15	99,888,284 (GRCm39)	missense	probably benign	0.00
R5059:Larp4	UTSW	15	99,903,171 (GRCm39)	missense	probably damaging	1.00
R5081:Larp4	UTSW	15	99,870,898 (GRCm39)	intron	probably benign
R5104:Larp4	UTSW	15	99,883,964 (GRCm39)	missense	probably damaging	1.00
R5409:Larp4	UTSW	15	99,883,945 (GRCm39)	missense	probably damaging	0.98
R5436:Larp4	UTSW	15	99,883,995 (GRCm39)	missense	probably damaging	0.98
R6895:Larp4	UTSW	15	99,905,611 (GRCm39)	critical splice donor site	probably null
R7316:Larp4	UTSW	15	99,898,898 (GRCm39)	missense	probably benign
R7483:Larp4	UTSW	15	99,889,659 (GRCm39)	missense	probably benign	0.01
R7510:Larp4	UTSW	15	99,891,258 (GRCm39)	missense	probably benign	0.07
R8131:Larp4	UTSW	15	99,892,570 (GRCm39)	missense	probably damaging	0.99
R8263:Larp4	UTSW	15	99,883,961 (GRCm39)	missense	probably benign	0.00
R8322:Larp4	UTSW	15	99,908,237 (GRCm39)	missense	probably benign	0.01
R8671:Larp4	UTSW	15	99,908,339 (GRCm39)	missense	probably benign	0.01
R9059:Larp4	UTSW	15	99,889,693 (GRCm39)	missense	probably benign	0.26
R9151:Larp4	UTSW	15	99,888,205 (GRCm39)	missense	possibly damaging	0.88
R9444:Larp4	UTSW	15	99,909,807 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCGGTCTAATGCAGTATCCC -3'
(R):5'- GAGATGAATTTTGGGCTCTTCC -3'

Sequencing Primer
(F):5'- AGCTCCCGAGAAGCCTGTTG -3'
(R):5'- TTCCTACTCGCAATTTCAAAAATCCG -3'

Posted On

2015-04-29