Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03372:Larp1b'

420328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Larp1b

Ensembl Gene

ENSMUSG00000025762

Gene Name

La ribonucleoprotein domain family, member 1B

Synonyms

Larp2, 1700108L22Rik, 4933421B21Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

40950354-41040234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41024527 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 6 (H6L)

Ref Sequence

ENSEMBL: ENSMUSP00000096721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099121]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000065411

SMART Domains

Protein: ENSMUSP00000066664
Gene: ENSMUSG00000025762

Domain	Start	End	E-Value	Type
Blast:DM15	31	65	1e-16	BLAST
low complexity region	119	129	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099121
AA Change: H6L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096721
Gene: ENSMUSG00000025762
AA Change: H6L

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
DM15	52	93	6.61e-18	SMART
DM15	94	132	5.75e-18	SMART
DM15	133	167	2.82e-1	SMART
low complexity region	221	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192456

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Col5a3	G	A	9: 20,775,328	P1334S	unknown	Het
Dab2	T	C	15: 6,429,549	L293P	probably damaging	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,971,157		probably benign	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rad50	T	C	11: 53,695,294	K292E	probably benign	Het
Rbm27	G	A	18: 42,305,716	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably 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
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
R7717:Larp1b	UTSW	3	40972444	missense	probably damaging	0.97
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
X0021:Larp1b	UTSW	3	40967494	missense	probably benign

Posted On

2016-08-02