Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Larp1'

479309

Institutional Source

Beutler Lab

Gene Symbol

Larp1

Ensembl Gene

ENSMUSG00000037331

Gene Name

La ribonucleoprotein 1, translational regulator

Synonyms

Larp, 3110040D16Rik, 1810024J12Rik

MMRRC Submission

044208-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57899890-57952860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57932431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 204 (E204G)

Ref Sequence

ENSEMBL: ENSMUSP00000071421 (fasta)

Gene Model

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

AlphaFold

Q6ZQ58

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071487
AA Change: E204G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: E204G

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

noncoding transcript
Transcript: ENSMUST00000140500

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178636
AA Change: E204G

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: E204G

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

0.0802

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Antxr1	C	A	6: 87,263,982 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,987,388 (GRCm39)	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Marchf10	A	G	11: 105,292,877 (GRCm39)	S72P	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,913,095 (GRCm39)		probably null	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Syt16	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,444 (GRCm39)	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	probably benign	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
R5309:Larp1	UTSW	11	57,941,634 (GRCm39)	missense	possibly damaging	0.72
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
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

Posted On

2017-06-26