Mutagenetix > Incidental Mutation

Incidental Mutation 'R5309:Larp1'

404733

Institutional Source

Beutler Lab

Gene Symbol

Larp1

Ensembl Gene

ENSMUSG00000037331

Gene Name

La ribonucleoprotein 1, translational regulator

Synonyms

Larp, 3110040D16Rik, 1810024J12Rik

MMRRC Submission

042892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57899890-57952860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57941634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 689 (V689A)

Ref Sequence

ENSEMBL: ENSMUSP00000136673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071487] [ENSMUST00000178636]

AlphaFold

Q6ZQ58

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071487
AA Change: V689A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: V689A

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	37	87	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	304	331	N/A	INTRINSIC
LA	376	452	1.98e-40	SMART
low complexity region	538	555	N/A	INTRINSIC
low complexity region	562	571	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
low complexity region	758	766	N/A	INTRINSIC
DM15	861	902	7.3e-20	SMART
DM15	903	941	3.85e-19	SMART
DM15	942	977	8.59e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178636
AA Change: V689A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: V689A

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
low complexity region	37	87	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	304	331	N/A	INTRINSIC
LA	376	452	1.98e-40	SMART
low complexity region	538	555	N/A	INTRINSIC
low complexity region	562	571	N/A	INTRINSIC
low complexity region	575	589	N/A	INTRINSIC
low complexity region	758	766	N/A	INTRINSIC
DM15	861	902	7.3e-20	SMART
DM15	903	941	3.85e-19	SMART
DM15	942	977	8.59e-1	SMART

Meta Mutation Damage Score

0.1358

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,540 (GRCm39)	Q72R	unknown	Het
Abca15	T	C	7: 119,944,592 (GRCm39)	V409A	probably damaging	Het
Abcg3	A	C	5: 105,084,465 (GRCm39)	C577G	possibly damaging	Het
Adamtsl5	A	T	10: 80,180,982 (GRCm39)		probably benign	Het
Adgrg3	G	A	8: 95,766,492 (GRCm39)	V388I	probably benign	Het
Ank2	T	C	3: 126,753,417 (GRCm39)	Q288R	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdh3	A	G	8: 107,265,652 (GRCm39)	T232A	probably damaging	Het
Cfap210	T	C	2: 69,617,602 (GRCm39)	T60A	possibly damaging	Het
Cntnap5c	A	T	17: 58,666,249 (GRCm39)	E1093V	probably benign	Het
Cplx3	A	T	9: 57,518,360 (GRCm39)	L343Q	probably damaging	Het
Cwh43	A	G	5: 73,574,110 (GRCm39)	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,423,793 (GRCm39)	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,138,617 (GRCm39)	V266E	probably damaging	Het
Egfr	G	A	11: 16,861,703 (GRCm39)	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,774,207 (GRCm39)	V201A	probably damaging	Het
Exoc7	C	A	11: 116,195,853 (GRCm39)	E28*	probably null	Het
Fam118a	C	T	15: 84,934,956 (GRCm39)	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019 (GRCm39)	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gnal	G	A	18: 67,346,178 (GRCm39)	R219K	possibly damaging	Het
Helz2	T	A	2: 180,876,639 (GRCm39)	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,766,501 (GRCm39)	S39P	probably damaging	Het
Ipo11	T	C	13: 106,970,481 (GRCm39)		probably benign	Het
Klc1	A	G	12: 111,762,055 (GRCm39)	K575R	possibly damaging	Het
Mki67	A	T	7: 135,302,559 (GRCm39)	V825E	probably damaging	Het
Mmp9	T	A	2: 164,792,715 (GRCm39)		probably benign	Het
Myog	A	G	1: 134,218,064 (GRCm39)	K91E	probably damaging	Het
Nfil3	A	T	13: 53,121,656 (GRCm39)	V416E	probably damaging	Het
Nup160	G	T	2: 90,563,176 (GRCm39)	E1314*	probably null	Het
Or4g17	T	C	2: 111,210,179 (GRCm39)	V278A	possibly damaging	Het
Or4k35	T	G	2: 111,100,655 (GRCm39)	D19A	probably benign	Het
Or6c66b	A	C	10: 129,377,134 (GRCm39)	M243L	probably benign	Het
Or6c75	T	A	10: 129,337,383 (GRCm39)	V210E	probably damaging	Het
Osbpl8	T	A	10: 111,106,418 (GRCm39)	V275E	probably benign	Het
Osbpl9	A	G	4: 108,923,352 (GRCm39)	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,573,147 (GRCm39)		probably null	Het
Proz	T	C	8: 13,111,049 (GRCm39)	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,688,919 (GRCm39)	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,664,389 (GRCm39)	L322P	probably damaging	Het
Rnf5	A	G	17: 34,820,562 (GRCm39)	F175S	probably benign	Het
Sema4a	G	A	3: 88,344,343 (GRCm39)	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,676,708 (GRCm39)	D193G	probably damaging	Het
Shoc2	T	C	19: 53,976,164 (GRCm39)	V18A	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,756,958 (GRCm39)	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,226,830 (GRCm39)	E651G	probably damaging	Het
Snx13	C	T	12: 35,194,324 (GRCm39)	Q956*	probably null	Het
Spg21	A	G	9: 65,376,084 (GRCm39)	I31V	probably benign	Het
Srpk2	T	C	5: 23,730,716 (GRCm39)	K268E	probably damaging	Het
Supt16	T	C	14: 52,400,155 (GRCm39)	E996G	probably damaging	Het
Syf2	A	G	4: 134,663,380 (GRCm39)	D184G	probably benign	Het
Tmem45a2	T	C	16: 56,859,370 (GRCm39)	D287G	possibly damaging	Het
Utrn	A	T	10: 12,603,513 (GRCm39)	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,880 (GRCm39)	I94N	probably damaging	Het
Vmn2r103	A	T	17: 20,013,296 (GRCm39)	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Vps35l	T	C	7: 118,412,799 (GRCm39)	I629T	probably damaging	Het
Zfp949	A	C	9: 88,449,236 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Larp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Larp1	APN	11	57,933,648 (GRCm39)	missense	possibly damaging	0.91
IGL02114:Larp1	APN	11	57,947,881 (GRCm39)	missense	probably damaging	1.00
IGL03084:Larp1	APN	11	57,947,921 (GRCm39)	missense	probably damaging	1.00
IGL03126:Larp1	APN	11	57,941,703 (GRCm39)	missense	possibly damaging	0.65
IGL03278:Larp1	APN	11	57,934,882 (GRCm39)	splice site	probably benign
Bayou	UTSW	11	57,949,422 (GRCm39)	frame shift	probably null
R0009:Larp1	UTSW	11	57,946,299 (GRCm39)	missense	possibly damaging	0.94
R0020:Larp1	UTSW	11	57,940,849 (GRCm39)	missense	probably damaging	1.00
R0479:Larp1	UTSW	11	57,933,646 (GRCm39)	missense	possibly damaging	0.92
R0845:Larp1	UTSW	11	57,938,576 (GRCm39)	missense	probably benign	0.00
R1691:Larp1	UTSW	11	57,938,874 (GRCm39)	missense	probably benign	0.08
R1793:Larp1	UTSW	11	57,940,764 (GRCm39)	missense	possibly damaging	0.60
R3618:Larp1	UTSW	11	57,948,172 (GRCm39)	missense	probably benign	0.03
R4689:Larp1	UTSW	11	57,932,439 (GRCm39)	missense	probably damaging	1.00
R4797:Larp1	UTSW	11	57,938,806 (GRCm39)	nonsense	probably null
R5089:Larp1	UTSW	11	57,938,693 (GRCm39)	missense	possibly damaging	0.92
R5883:Larp1	UTSW	11	57,933,125 (GRCm39)	missense	probably damaging	0.97
R5951:Larp1	UTSW	11	57,940,765 (GRCm39)	missense	probably benign	0.14
R6038:Larp1	UTSW	11	57,932,431 (GRCm39)	missense	possibly damaging	0.68
R6038:Larp1	UTSW	11	57,932,431 (GRCm39)	missense	possibly damaging	0.68
R6266:Larp1	UTSW	11	57,933,089 (GRCm39)	missense	probably damaging	0.99
R6350:Larp1	UTSW	11	57,940,657 (GRCm39)	missense	probably benign	0.14
R6650:Larp1	UTSW	11	57,949,422 (GRCm39)	frame shift	probably null
R6687:Larp1	UTSW	11	57,948,156 (GRCm39)	missense	probably damaging	0.99
R6736:Larp1	UTSW	11	57,933,473 (GRCm39)	splice site	probably null
R6881:Larp1	UTSW	11	57,940,849 (GRCm39)	missense	probably damaging	1.00
R7368:Larp1	UTSW	11	57,938,904 (GRCm39)	missense	probably damaging	1.00
R7547:Larp1	UTSW	11	57,943,405 (GRCm39)	critical splice acceptor site	probably null
R7838:Larp1	UTSW	11	57,938,540 (GRCm39)	missense	possibly damaging	0.82
R8260:Larp1	UTSW	11	57,949,515 (GRCm39)	missense	probably benign	0.05
R8446:Larp1	UTSW	11	57,942,035 (GRCm39)	critical splice donor site	probably null
R9381:Larp1	UTSW	11	57,949,532 (GRCm39)	missense	probably benign
R9450:Larp1	UTSW	11	57,941,890 (GRCm39)	missense	probably damaging	1.00
R9466:Larp1	UTSW	11	57,943,461 (GRCm39)	missense	possibly damaging	0.96
Z1177:Larp1	UTSW	11	57,940,613 (GRCm39)	nonsense	probably null
Z1186:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1187:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1188:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1189:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1190:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1191:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00
Z1192:Larp1	UTSW	11	57,933,166 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCTGGGCTGAGAGATGGTAG -3'
(R):5'- AGCACCAAACAGCTTGTTGG -3'

Sequencing Primer
(F):5'- AGTGGAGACTAGAATCCTGTGTG -3'
(R):5'- CAAACAGCTTGTTGGCCAGG -3'

Posted On

2016-07-22