Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Ltv1'

6126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltv1

Ensembl Gene

ENSMUSG00000019814

Gene Name

LTV1 ribosome biogenesis factor

Synonyms

2610020N02Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

13054341-13068881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13066327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 100 (V100I)

Ref Sequence

ENSEMBL: ENSMUSP00000019950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019950]

AlphaFold

Q6NSQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000019950
AA Change: V100I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814
AA Change: V100I

Domain	Start	End	E-Value	Type
Pfam:LTV	11	440	3.8e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219824

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,514,165 (GRCm39)	L846H	probably benign	Het
Abca6	A	T	11: 110,075,535 (GRCm39)	L1319I	probably damaging	Het
Apob	C	T	12: 8,043,065 (GRCm39)		probably benign	Het
Atg16l2	A	C	7: 100,945,360 (GRCm39)	S268R	probably benign	Het
Atp1b3	T	C	9: 96,215,756 (GRCm39)		probably benign	Het
Atxn7	T	G	14: 14,096,324 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,880,558 (GRCm39)		probably benign	Het
C4b	G	A	17: 34,953,402 (GRCm39)	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,722,863 (GRCm39)	I577T	probably damaging	Het
Cbx6	A	G	15: 79,713,130 (GRCm39)	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,609,109 (GRCm39)	I252L	probably benign	Het
Cdh8	A	T	8: 100,006,322 (GRCm39)	D88E	probably damaging	Het
Cep135	T	C	5: 76,749,306 (GRCm39)	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,597,547 (GRCm39)		probably benign	Het
Cip2a	T	A	16: 48,822,178 (GRCm39)	H234Q	probably damaging	Het
Col12a1	T	C	9: 79,588,819 (GRCm39)	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,469,362 (GRCm39)	G802D	unknown	Het
Ddx41	T	C	13: 55,679,212 (GRCm39)	T545A	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Fam13b	A	T	18: 34,587,771 (GRCm39)	V509D	probably damaging	Het
Ffar4	C	T	19: 38,095,837 (GRCm39)	P192L	probably benign	Het
Fn1	C	A	1: 71,680,322 (GRCm39)	C461F	probably damaging	Het
Gm14226	G	T	2: 154,867,078 (GRCm39)	S345I	probably damaging	Het
Gopc	T	C	10: 52,225,326 (GRCm39)	K308E	probably damaging	Het
Hapln2	A	T	3: 87,931,641 (GRCm39)	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,806,215 (GRCm39)	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,208,290 (GRCm39)	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,557 (GRCm39)	C282*	probably null	Het
Mcf2l	T	C	8: 13,050,857 (GRCm39)	S308P	probably damaging	Het
Narf	G	A	11: 121,129,344 (GRCm39)		probably null	Het
Nmd3	T	A	3: 69,652,573 (GRCm39)	N386K	possibly damaging	Het
Noxo1	C	T	17: 24,917,910 (GRCm39)		probably benign	Het
Or1e30	T	A	11: 73,678,406 (GRCm39)	I214N	probably damaging	Het
Ppic	C	T	18: 53,542,366 (GRCm39)	G114D	probably damaging	Het
Ppp4r1	T	C	17: 66,123,014 (GRCm39)	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Qser1	A	G	2: 104,617,326 (GRCm39)	V1072A	probably benign	Het
Rad54l2	T	A	9: 106,577,760 (GRCm39)	M1054L	probably benign	Het
Scara5	A	C	14: 65,975,864 (GRCm39)		probably benign	Het
Smtnl2	C	T	11: 72,294,085 (GRCm39)		probably benign	Het
Spink8	A	T	9: 109,648,287 (GRCm39)	I25F	probably benign	Het
Vit	G	A	17: 78,909,336 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,926,372 (GRCm39)	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,283,911 (GRCm39)	M277K	probably benign	Het
Zp2	T	C	7: 119,732,623 (GRCm39)	D641G	probably benign	Het

Other mutations in Ltv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Ltv1	APN	10	13,058,031 (GRCm39)	missense	probably damaging	1.00
IGL01931:Ltv1	APN	10	13,061,245 (GRCm39)	missense	probably damaging	1.00
IGL02929:Ltv1	APN	10	13,067,970 (GRCm39)	missense	possibly damaging	0.80
R0313:Ltv1	UTSW	10	13,058,604 (GRCm39)	critical splice donor site	probably null
R0457:Ltv1	UTSW	10	13,067,887 (GRCm39)	missense	probably benign	0.41
R1786:Ltv1	UTSW	10	13,058,280 (GRCm39)	unclassified	probably benign
R1817:Ltv1	UTSW	10	13,055,018 (GRCm39)	missense	probably damaging	1.00
R3780:Ltv1	UTSW	10	13,054,944 (GRCm39)	missense	probably benign	0.25
R4395:Ltv1	UTSW	10	13,066,323 (GRCm39)	missense	probably benign
R5390:Ltv1	UTSW	10	13,058,103 (GRCm39)	missense	probably damaging	1.00
R6271:Ltv1	UTSW	10	13,055,445 (GRCm39)	missense	probably damaging	1.00
R6366:Ltv1	UTSW	10	13,056,739 (GRCm39)	missense	probably benign	0.01
R7057:Ltv1	UTSW	10	13,056,646 (GRCm39)	missense	possibly damaging	0.58
R7975:Ltv1	UTSW	10	13,066,453 (GRCm39)	missense	probably damaging	1.00
R9455:Ltv1	UTSW	10	13,058,117 (GRCm39)	missense	probably damaging	1.00
R9608:Ltv1	UTSW	10	13,066,440 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20