Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Lsg1'

515076

Institutional Source

Beutler Lab

Gene Symbol

Lsg1

Ensembl Gene

ENSMUSG00000022538

Gene Name

large 60S subunit nuclear export GTPase 1

Synonyms

D16Bwg1547e

MMRRC Submission

044527-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30380187-30406430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30393386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 187 (L187P)

Ref Sequence

ENSEMBL: ENSMUSP00000112860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117363] [ENSMUST00000123286] [ENSMUST00000143170]

AlphaFold

Q3UM18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117363
AA Change: L187P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112860
Gene: ENSMUSG00000022538
AA Change: L187P

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
coiled coil region	129	151	N/A	INTRINSIC
SCOP:d1h65a_	165	280	2e-3	SMART
low complexity region	300	309	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC
Pfam:MMR_HSR1	374	461	1.3e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231238

Meta Mutation Damage Score

0.7440

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,743,855 (GRCm39)	S812P	possibly damaging	Het
Atp2c2	A	G	8: 120,453,093 (GRCm39)	E159G	probably benign	Het
Atrn	A	G	2: 130,821,889 (GRCm39)	I861V	probably damaging	Het
Clip1	A	G	5: 123,741,717 (GRCm39)	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,975,608 (GRCm39)	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,657 (GRCm39)	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,329,748 (GRCm39)		probably null	Het
Cyp4a14	A	G	4: 115,353,280 (GRCm39)	Y11H	probably benign	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,618,317 (GRCm39)	Y242F	probably benign	Het
Drd3	G	T	16: 43,641,670 (GRCm39)	G329*	probably null	Het
Duxf1	T	C	10: 58,059,494 (GRCm39)		probably benign	Het
Dysf	T	A	6: 83,985,945 (GRCm39)	S17T	probably benign	Het
Eno1	A	T	4: 150,333,009 (GRCm39)	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,518,971 (GRCm39)	V190I	probably benign	Het
Fkbp15	T	C	4: 62,242,429 (GRCm39)	T508A	probably damaging	Het
Fndc1	A	G	17: 7,988,567 (GRCm39)	V1165A	unknown	Het
Foxj3	A	T	4: 119,430,945 (GRCm39)		probably null	Het
Gabarap	T	C	11: 69,882,630 (GRCm39)		probably null	Het
Gm19410	T	A	8: 36,270,736 (GRCm39)	L1221*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Igf1r	A	T	7: 67,850,998 (GRCm39)	Y931F	probably benign	Het
Il23r	A	T	6: 67,400,636 (GRCm39)	S565T	probably damaging	Het
Ipo8	A	T	6: 148,717,995 (GRCm39)	Y209*	probably null	Het
Jph2	C	T	2: 163,181,632 (GRCm39)	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,635,890 (GRCm39)	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562 (GRCm39)	L754Q	probably damaging	Het
Ksr1	C	T	11: 78,927,320 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 69,084,918 (GRCm39)	V610F	probably benign	Het
Lars2	A	G	9: 123,283,825 (GRCm39)	T698A	probably benign	Het
Lonp1	A	G	17: 56,928,961 (GRCm39)	V267A	possibly damaging	Het
Loxhd1	T	A	18: 77,468,128 (GRCm39)	D925E	probably damaging	Het
Mki67	A	T	7: 135,298,050 (GRCm39)	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,315,271 (GRCm39)	I305T	probably damaging	Het
Mtbp	A	G	15: 55,421,016 (GRCm39)	M1V	probably null	Het
Myadml2	C	A	11: 120,538,538 (GRCm39)	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703 (GRCm39)	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 79,250,739 (GRCm39)	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,449,339 (GRCm39)	Y147F	probably benign	Het
Or4c11c	C	T	2: 88,661,613 (GRCm39)	R51*	probably null	Het
Pet100	T	C	8: 3,672,370 (GRCm39)	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,869 (GRCm39)	V75A	probably benign	Het
Ptprs	A	T	17: 56,725,935 (GRCm39)	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,832,984 (GRCm39)	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,287,635 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,462,530 (GRCm39)	C4839S	probably damaging	Het
Scai	A	C	2: 38,992,340 (GRCm39)	D379E	probably benign	Het
Scd2	G	T	19: 44,288,198 (GRCm39)	G197*	probably null	Het
Sdr39u1	A	C	14: 56,135,166 (GRCm39)	I259S	probably benign	Het
Slco1a5	A	T	6: 142,187,906 (GRCm39)		probably null	Het
Sp1	A	T	15: 102,339,318 (GRCm39)	T733S	probably benign	Het
Tecta	A	G	9: 42,255,051 (GRCm39)	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,124,975 (GRCm39)	W240L	probably damaging	Het
Trarg1	T	C	11: 76,571,355 (GRCm39)	S124P	probably damaging	Het
Trim50	A	G	5: 135,382,454 (GRCm39)	K102R	probably benign	Het
Utrn	A	G	10: 12,619,827 (GRCm39)	Y278H	probably damaging	Het
Vinac1	T	A	2: 128,878,731 (GRCm39)	D1065V	unknown	Het
Vmn2r109	A	C	17: 20,784,796 (GRCm39)		probably null	Het
Zbed5	T	C	5: 129,932,210 (GRCm39)	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,711,304 (GRCm39)	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 10,802,418 (GRCm39)		probably null	Het

Other mutations in Lsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Lsg1	APN	16	30,400,913 (GRCm39)	missense	probably damaging	1.00
IGL02023:Lsg1	APN	16	30,404,494 (GRCm39)	missense	probably damaging	1.00
IGL02530:Lsg1	APN	16	30,390,060 (GRCm39)	missense	probably benign	0.31
IGL02647:Lsg1	APN	16	30,404,370 (GRCm39)	critical splice donor site	probably null
IGL02710:Lsg1	APN	16	30,390,292 (GRCm39)	missense	probably benign
IGL02714:Lsg1	APN	16	30,404,368 (GRCm39)	splice site	probably null
IGL02938:Lsg1	APN	16	30,390,024 (GRCm39)	missense	probably benign
R1349:Lsg1	UTSW	16	30,383,472 (GRCm39)	missense	possibly damaging	0.94
R1372:Lsg1	UTSW	16	30,383,472 (GRCm39)	missense	possibly damaging	0.94
R1569:Lsg1	UTSW	16	30,399,823 (GRCm39)	splice site	probably null
R1667:Lsg1	UTSW	16	30,390,170 (GRCm39)	missense	probably damaging	1.00
R2445:Lsg1	UTSW	16	30,383,513 (GRCm39)	missense	probably benign	0.01
R2991:Lsg1	UTSW	16	30,380,547 (GRCm39)	missense	probably damaging	0.97
R3611:Lsg1	UTSW	16	30,380,613 (GRCm39)	missense	probably benign	0.04
R4256:Lsg1	UTSW	16	30,392,061 (GRCm39)	missense	probably benign	0.01
R4700:Lsg1	UTSW	16	30,384,267 (GRCm39)	missense	probably damaging	0.99
R4750:Lsg1	UTSW	16	30,384,267 (GRCm39)	missense	probably damaging	0.99
R5114:Lsg1	UTSW	16	30,380,538 (GRCm39)	missense	probably damaging	1.00
R5580:Lsg1	UTSW	16	30,387,985 (GRCm39)	missense	probably null	0.91
R5589:Lsg1	UTSW	16	30,399,819 (GRCm39)	missense	probably damaging	1.00
R5719:Lsg1	UTSW	16	30,380,593 (GRCm39)	missense	probably benign	0.00
R5721:Lsg1	UTSW	16	30,380,593 (GRCm39)	missense	probably benign	0.00
R6899:Lsg1	UTSW	16	30,400,906 (GRCm39)	missense	probably benign
R7469:Lsg1	UTSW	16	30,380,635 (GRCm39)	missense	probably benign	0.08
R7530:Lsg1	UTSW	16	30,401,419 (GRCm39)	missense	possibly damaging	0.65
R7737:Lsg1	UTSW	16	30,400,003 (GRCm39)	splice site	probably null
R7869:Lsg1	UTSW	16	30,383,540 (GRCm39)	missense	probably benign	0.00
R8198:Lsg1	UTSW	16	30,383,594 (GRCm39)	missense	probably benign
R8439:Lsg1	UTSW	16	30,380,569 (GRCm39)	missense	probably damaging	1.00
R8466:Lsg1	UTSW	16	30,400,919 (GRCm39)	missense	probably benign	0.00
R8735:Lsg1	UTSW	16	30,399,865 (GRCm39)	critical splice acceptor site	probably null
X0065:Lsg1	UTSW	16	30,390,276 (GRCm39)	missense	probably benign
Z1177:Lsg1	UTSW	16	30,392,107 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAACCTGTCTACAGAGCGG -3'
(R):5'- GGCAATGGTTCCTTTTCCAATAGATG -3'

Sequencing Primer
(F):5'- TCTACAGAGCGGCAGTGTG -3'
(R):5'- GGAAACTTTCAGATGTCAGTAGCCC -3'

Posted On

2018-05-04