Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Larp1b'

420328

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 #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

40904263-40994669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40978962 bp (GRCm39)

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]

AlphaFold

F6U5V1

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: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	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
IGL02192:Larp1b	APN	3	40,921,929 (GRCm39)	missense	probably benign	0.01
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

2016-08-02