Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Larp1b'

594962

Institutional Source

Beutler Lab

Gene Symbol

Larp1b

Ensembl Gene

ENSMUSG00000025762

Gene Name

La ribonucleoprotein domain family, member 1B

Synonyms

Larp2, 1700108L22Rik, 4933421B21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40950354-41040234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40972444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 251 (S251F)

Ref Sequence

ENSEMBL: ENSMUSP00000037127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048490] [ENSMUST00000191805] [ENSMUST00000191872]

AlphaFold

F6U5V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048490
AA Change: S251F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037127
Gene: ENSMUSG00000025762
AA Change: S251F

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
low complexity region	122	133	N/A	INTRINSIC
low complexity region	138	164	N/A	INTRINSIC
LA	213	291	4.35e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191805
AA Change: S251F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000141487
Gene: ENSMUSG00000025762
AA Change: S251F

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
low complexity region	122	133	N/A	INTRINSIC
low complexity region	138	164	N/A	INTRINSIC
LA	213	291	4.35e-37	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191872
AA Change: S204F

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

SMART Domains

Protein: ENSMUSP00000142106
Gene: ENSMUSG00000025762
AA Change: S204F

Domain	Start	End	E-Value	Type
low complexity region	28	49	N/A	INTRINSIC
low complexity region	70	86	N/A	INTRINSIC
low complexity region	91	117	N/A	INTRINSIC
LA	166	244	4.35e-37	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Elavl4	A	G	4: 110,206,466	C342R	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Larp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Larp1b	APN	3	41033440	nonsense	probably null
IGL01636:Larp1b	APN	3	40970478	missense	probably benign	0.35
IGL01845:Larp1b	APN	3	40970525	missense	probably benign	0.03
IGL02192:Larp1b	APN	3	40967494	missense	probably benign	0.01
IGL03372:Larp1b	APN	3	41024527	missense	possibly damaging	0.79
R0396:Larp1b	UTSW	3	40970561	missense	probably damaging	1.00
R0512:Larp1b	UTSW	3	40970034	missense	probably benign	0.00
R0975:Larp1b	UTSW	3	40970490	missense	probably damaging	0.99
R1119:Larp1b	UTSW	3	41033528	missense	possibly damaging	0.87
R1337:Larp1b	UTSW	3	41033402	missense	probably damaging	1.00
R1460:Larp1b	UTSW	3	40962218	missense	probably benign
R1565:Larp1b	UTSW	3	40972384	missense	probably damaging	1.00
R1589:Larp1b	UTSW	3	41033474	missense	probably damaging	1.00
R1640:Larp1b	UTSW	3	41034072	start codon destroyed	probably null	0.04
R1899:Larp1b	UTSW	3	40964084	missense	probably benign	0.04
R2133:Larp1b	UTSW	3	40970535	missense	possibly damaging	0.69
R3054:Larp1b	UTSW	3	40964100	missense	probably benign	0.10
R4621:Larp1b	UTSW	3	40963989	missense	possibly damaging	0.71
R4818:Larp1b	UTSW	3	40970570	missense	probably damaging	1.00
R5023:Larp1b	UTSW	3	41033985	missense	possibly damaging	0.88
R5166:Larp1b	UTSW	3	40964052	nonsense	probably null
R5357:Larp1b	UTSW	3	41024515	missense	probably benign	0.04
R5364:Larp1b	UTSW	3	40977223	missense	probably damaging	0.99
R5492:Larp1b	UTSW	3	40969899	missense	probably damaging	0.99
R5495:Larp1b	UTSW	3	41035822	missense	probably damaging	1.00
R7070:Larp1b	UTSW	3	40976651	missense	probably damaging	1.00
R7293:Larp1b	UTSW	3	40985444	missense
R7615:Larp1b	UTSW	3	41033534	missense	possibly damaging	0.79
R7615:Larp1b	UTSW	3	41035816	missense	probably benign	0.01
R8060:Larp1b	UTSW	3	40985402	missense
R8282:Larp1b	UTSW	3	41036810	missense	probably damaging	0.99
R8429:Larp1b	UTSW	3	40977227	makesense	probably null
R8458:Larp1b	UTSW	3	40976560	missense	probably benign	0.00
R9189:Larp1b	UTSW	3	40970604	missense	probably damaging	1.00
R9468:Larp1b	UTSW	3	40976555	missense	probably benign	0.00
R9628:Larp1b	UTSW	3	40961668	critical splice donor site	probably null
X0021:Larp1b	UTSW	3	40967494	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTGTGCCATGTTATAGTCCATG -3'
(R):5'- GGTGATAAACCCAGGATCTTGTG -3'

Sequencing Primer
(F):5'- GGATGAACTCATGTCCTCT -3'
(R):5'- GTGTATATATACCAATGCTCTGCTC -3'

Posted On

2019-11-12