Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Larp1'

714202

Institutional Source

Beutler Lab

Gene Symbol

Larp1

Ensembl Gene

ENSMUSG00000037331

Gene Name

La ribonucleoprotein domain family, member 1

Synonyms

1810024J12Rik, 3110040D16Rik, Larp

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58009064-58062034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58051064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 743 (S743P)

Ref Sequence

ENSEMBL: ENSMUSP00000071421 (fasta)

Gene Model

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

AlphaFold

Q6ZQ58

Predicted Effect

probably damaging
Transcript: ENSMUST00000071487
AA Change: S743P

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

SMART Domains

Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: S743P

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: S743P

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: S743P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110 (GRCm38)		probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623 (GRCm38)		probably benign	Het
2810004N23Rik	T	C	8: 124,840,476 (GRCm38)	K229E	probably damaging	Het
4931409K22Rik	T	A	5: 24,549,449 (GRCm38)	I395F	probably benign	Het
9030624J02Rik	T	C	7: 118,752,895 (GRCm38)		probably null	Het
Abca8b	T	C	11: 109,969,104 (GRCm38)	T523A	probably damaging	Het
Adamts18	G	T	8: 113,764,310 (GRCm38)	D508E	probably benign	Het
Arap2	T	C	5: 62,698,419 (GRCm38)	E558G	probably benign	Het
Arid4a	A	T	12: 71,072,600 (GRCm38)	D331V		Het
Ash1l	A	T	3: 89,007,832 (GRCm38)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,013,859 (GRCm38)	S947T	probably benign	Het
B4galt1	A	T	4: 40,853,804 (GRCm38)	M1K	probably null	Het
BC025446	T	A	15: 75,220,725 (GRCm38)	C98S	probably damaging	Het
Ccpg1	G	A	9: 72,997,421 (GRCm38)	S4N	unknown	Het
Cfap43	A	T	19: 47,897,871 (GRCm38)	L102M	probably benign	Het
Clic6	T	C	16: 92,530,756 (GRCm38)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,784,174 (GRCm38)	D245E	probably benign	Het
Cpsf7	G	A	19: 10,540,849 (GRCm38)		probably null	Het
Depdc5	A	G	5: 32,934,010 (GRCm38)	D721G	probably benign	Het
Dhx29	C	T	13: 112,947,328 (GRCm38)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,973,189 (GRCm38)	E1397G	unknown	Het
Dsp	C	T	13: 38,192,403 (GRCm38)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,285,544 (GRCm38)	G73D	probably damaging	Het
Ganab	A	G	19: 8,915,712 (GRCm38)	D960G	probably damaging	Het
Gm12394	G	T	4: 42,793,833 (GRCm38)	Q100K	probably benign	Het
Gria1	T	C	11: 57,309,789 (GRCm38)	V764A	probably damaging	Het
Grk3	T	C	5: 112,915,047 (GRCm38)	K645E	probably benign	Het
Hecw2	A	T	1: 53,839,029 (GRCm38)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,426,833 (GRCm38)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,473,002 (GRCm38)	N129K	possibly damaging	Het
Itgb4	T	C	11: 115,983,271 (GRCm38)	Y340H	probably damaging	Het
Itgb6	T	C	2: 60,628,028 (GRCm38)	I460M	probably benign	Het
Kat14	T	C	2: 144,400,819 (GRCm38)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,238,010 (GRCm38)	D817E	probably benign	Het
Lamb2	T	A	9: 108,480,561 (GRCm38)	C94*	probably null	Het
Ldlrap1	T	C	4: 134,747,179 (GRCm38)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Ltf	T	C	9: 111,021,996 (GRCm38)	L92P	probably damaging	Het
Mns1	C	A	9: 72,452,608 (GRCm38)	Q347K	probably benign	Het
Myof	A	T	19: 37,960,926 (GRCm38)	F611I	probably damaging	Het
Nop56	T	C	2: 130,275,681 (GRCm38)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,774,088 (GRCm38)	H114R		Het
Olfr1280	T	A	2: 111,316,053 (GRCm38)	N191K	probably benign	Het
Olfr1512	G	C	14: 52,372,653 (GRCm38)	Y133*	probably null	Het
Olfr390	C	A	11: 73,787,275 (GRCm38)	N112K	possibly damaging	Het
Park2	C	A	17: 11,838,634 (GRCm38)	H301N	possibly damaging	Het
Pcdha12	A	G	18: 37,020,939 (GRCm38)	D237G	probably damaging	Het
Pitpnm3	A	T	11: 72,061,586 (GRCm38)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,954,855 (GRCm38)	V211I	probably damaging	Het
Prpf38a	A	T	4: 108,572,875 (GRCm38)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,806,279 (GRCm38)	T1769A	probably benign	Het
Stab1	T	C	14: 31,162,939 (GRCm38)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,880,436 (GRCm38)	M713K	probably benign	Het
Top2a	T	C	11: 99,003,608 (GRCm38)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,662,135 (GRCm38)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 182,157,205 (GRCm38)	C298*	probably null	Het
Vwa3a	T	C	7: 120,804,030 (GRCm38)		probably null	Het
Vwa5b1	G	T	4: 138,588,629 (GRCm38)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,395,488 (GRCm38)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,470,281 (GRCm38)	H470R	probably benign	Het

Other mutations in Larp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Larp1	APN	11	58,042,822 (GRCm38)	missense	possibly damaging	0.91
IGL02114:Larp1	APN	11	58,057,055 (GRCm38)	missense	probably damaging	1.00
IGL03084:Larp1	APN	11	58,057,095 (GRCm38)	missense	probably damaging	1.00
IGL03126:Larp1	APN	11	58,050,877 (GRCm38)	missense	possibly damaging	0.65
IGL03278:Larp1	APN	11	58,044,056 (GRCm38)	splice site	probably benign
Bayou	UTSW	11	58,058,596 (GRCm38)	frame shift	probably null
R0009:Larp1	UTSW	11	58,055,473 (GRCm38)	missense	possibly damaging	0.94
R0020:Larp1	UTSW	11	58,050,023 (GRCm38)	missense	probably damaging	1.00
R0479:Larp1	UTSW	11	58,042,820 (GRCm38)	missense	possibly damaging	0.92
R0845:Larp1	UTSW	11	58,047,750 (GRCm38)	missense	probably benign	0.00
R1691:Larp1	UTSW	11	58,048,048 (GRCm38)	missense	probably benign	0.08
R1793:Larp1	UTSW	11	58,049,938 (GRCm38)	missense	possibly damaging	0.60
R3618:Larp1	UTSW	11	58,057,346 (GRCm38)	missense	probably benign	0.03
R4689:Larp1	UTSW	11	58,041,613 (GRCm38)	missense	probably damaging	1.00
R4797:Larp1	UTSW	11	58,047,980 (GRCm38)	nonsense	probably null
R5089:Larp1	UTSW	11	58,047,867 (GRCm38)	missense	possibly damaging	0.92
R5309:Larp1	UTSW	11	58,050,808 (GRCm38)	missense	possibly damaging	0.72
R5883:Larp1	UTSW	11	58,042,299 (GRCm38)	missense	probably damaging	0.97
R5951:Larp1	UTSW	11	58,049,939 (GRCm38)	missense	probably benign	0.14
R6038:Larp1	UTSW	11	58,041,605 (GRCm38)	missense	possibly damaging	0.68
R6038:Larp1	UTSW	11	58,041,605 (GRCm38)	missense	possibly damaging	0.68
R6266:Larp1	UTSW	11	58,042,263 (GRCm38)	missense	probably damaging	0.99
R6350:Larp1	UTSW	11	58,049,831 (GRCm38)	missense	probably benign	0.14
R6650:Larp1	UTSW	11	58,058,596 (GRCm38)	frame shift	probably null
R6687:Larp1	UTSW	11	58,057,330 (GRCm38)	missense	probably damaging	0.99
R6736:Larp1	UTSW	11	58,042,647 (GRCm38)	splice site	probably null
R6881:Larp1	UTSW	11	58,050,023 (GRCm38)	missense	probably damaging	1.00
R7368:Larp1	UTSW	11	58,048,078 (GRCm38)	missense	probably damaging	1.00
R7547:Larp1	UTSW	11	58,052,579 (GRCm38)	critical splice acceptor site	probably null
R7838:Larp1	UTSW	11	58,047,714 (GRCm38)	missense	possibly damaging	0.82
R8260:Larp1	UTSW	11	58,058,689 (GRCm38)	missense	probably benign	0.05
R8446:Larp1	UTSW	11	58,051,209 (GRCm38)	critical splice donor site	probably null
R9381:Larp1	UTSW	11	58,058,706 (GRCm38)	missense	probably benign
R9466:Larp1	UTSW	11	58,052,635 (GRCm38)	missense	possibly damaging	0.96
Z1177:Larp1	UTSW	11	58,049,787 (GRCm38)	nonsense	probably null
Z1186:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1187:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1188:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1189:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1190:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1191:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00
Z1192:Larp1	UTSW	11	58,042,340 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCAACAAGGTGAGGGGAC -3'
(R):5'- TGAGCTCTCAGCCTAAGGATG -3'

Sequencing Primer
(F):5'- GGTGAGGGGACGGGCAC -3'
(R):5'- CCTTTGTTGGCTCAGACCAGG -3'

Posted On

2022-06-15