Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Larp1b'

283918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Larp1b

Ensembl Gene

ENSMUSG00000025762

Gene Name

La ribonucleoprotein 1B

Synonyms

4933421B21Rik, Larp2, 1700108L22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

40904263-40994669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40921929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 116 (S116I)

Ref Sequence

ENSEMBL: ENSMUSP00000141487 (fasta)

Gene Model

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

AlphaFold

F6U5V1

Predicted Effect

probably benign
Transcript: ENSMUST00000048490
AA Change: S116I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000037127
Gene: ENSMUSG00000025762
AA Change: S116I

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 benign
Transcript: ENSMUST00000191805
AA Change: S116I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141487
Gene: ENSMUSG00000025762
AA Change: S116I

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 benign
Transcript: ENSMUST00000191872

SMART Domains

Protein: ENSMUSP00000142106
Gene: ENSMUSG00000025762

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

noncoding transcript
Transcript: ENSMUST00000191998

Predicted Effect

unknown
Transcript: ENSMUST00000193795
AA Change: S97I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197092

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Usp50	G	A	2: 126,619,958 (GRCm39)	T118I	possibly damaging	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Larp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01506:Larp1b	APN	3	40,987,875 (GRCm39)	nonsense	probably null
IGL01636:Larp1b	APN	3	40,924,913 (GRCm39)	missense	probably benign	0.35
IGL01845:Larp1b	APN	3	40,924,960 (GRCm39)	missense	probably benign	0.03
IGL03372:Larp1b	APN	3	40,978,962 (GRCm39)	missense	possibly damaging	0.79
R0396:Larp1b	UTSW	3	40,924,996 (GRCm39)	missense	probably damaging	1.00
R0512:Larp1b	UTSW	3	40,924,469 (GRCm39)	missense	probably benign	0.00
R0975:Larp1b	UTSW	3	40,924,925 (GRCm39)	missense	probably damaging	0.99
R1119:Larp1b	UTSW	3	40,987,963 (GRCm39)	missense	possibly damaging	0.87
R1337:Larp1b	UTSW	3	40,987,837 (GRCm39)	missense	probably damaging	1.00
R1460:Larp1b	UTSW	3	40,916,653 (GRCm39)	missense	probably benign
R1565:Larp1b	UTSW	3	40,926,819 (GRCm39)	missense	probably damaging	1.00
R1589:Larp1b	UTSW	3	40,987,909 (GRCm39)	missense	probably damaging	1.00
R1640:Larp1b	UTSW	3	40,988,507 (GRCm39)	start codon destroyed	probably null	0.04
R1899:Larp1b	UTSW	3	40,918,519 (GRCm39)	missense	probably benign	0.04
R2133:Larp1b	UTSW	3	40,924,970 (GRCm39)	missense	possibly damaging	0.69
R3054:Larp1b	UTSW	3	40,918,535 (GRCm39)	missense	probably benign	0.10
R4621:Larp1b	UTSW	3	40,918,424 (GRCm39)	missense	possibly damaging	0.71
R4818:Larp1b	UTSW	3	40,925,005 (GRCm39)	missense	probably damaging	1.00
R5023:Larp1b	UTSW	3	40,988,420 (GRCm39)	missense	possibly damaging	0.88
R5166:Larp1b	UTSW	3	40,918,487 (GRCm39)	nonsense	probably null
R5357:Larp1b	UTSW	3	40,978,950 (GRCm39)	missense	probably benign	0.04
R5364:Larp1b	UTSW	3	40,931,658 (GRCm39)	missense	probably damaging	0.99
R5492:Larp1b	UTSW	3	40,924,334 (GRCm39)	missense	probably damaging	0.99
R5495:Larp1b	UTSW	3	40,990,257 (GRCm39)	missense	probably damaging	1.00
R7070:Larp1b	UTSW	3	40,931,086 (GRCm39)	missense	probably damaging	1.00
R7293:Larp1b	UTSW	3	40,939,879 (GRCm39)	missense
R7615:Larp1b	UTSW	3	40,990,251 (GRCm39)	missense	probably benign	0.01
R7615:Larp1b	UTSW	3	40,987,969 (GRCm39)	missense	possibly damaging	0.79
R7717:Larp1b	UTSW	3	40,926,879 (GRCm39)	missense	probably damaging	0.97
R8060:Larp1b	UTSW	3	40,939,837 (GRCm39)	missense
R8282:Larp1b	UTSW	3	40,991,245 (GRCm39)	missense	probably damaging	0.99
R8429:Larp1b	UTSW	3	40,931,662 (GRCm39)	makesense	probably null
R8458:Larp1b	UTSW	3	40,930,995 (GRCm39)	missense	probably benign	0.00
R9189:Larp1b	UTSW	3	40,925,039 (GRCm39)	missense	probably damaging	1.00
R9468:Larp1b	UTSW	3	40,930,990 (GRCm39)	missense	probably benign	0.00
R9628:Larp1b	UTSW	3	40,916,103 (GRCm39)	critical splice donor site	probably null
X0021:Larp1b	UTSW	3	40,921,929 (GRCm39)	missense	probably benign

Posted On

2015-04-16