Mutagenetix > Incidental Mutation

Incidental Mutation 'R5390:Ltv1'

425527

Institutional Source

Beutler Lab

Gene Symbol

Ltv1

Ensembl Gene

ENSMUSG00000019814

Gene Name

LTV1 ribosome biogenesis factor

Synonyms

2610020N02Rik

MMRRC Submission

042962-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R5390 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13054341-13068881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13058103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 234 (R234C)

Ref Sequence

ENSEMBL: ENSMUSP00000019950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019950] [ENSMUST00000019954]

AlphaFold

Q6NSQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000019950
AA Change: R234C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814
AA Change: R234C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000019954

SMART Domains

Protein: ENSMUSP00000019954
Gene: ENSMUSG00000019815

Domain	Start	End	E-Value	Type
Pfam:zf-C2HC_2	14	38	1.6e-10	PFAM
low complexity region	104	112	N/A	INTRINSIC
Pfam:zf-C2HC_2	117	141	2.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219970

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,772 (GRCm39)		probably benign	Het
Anxa4	G	A	6: 86,730,865 (GRCm39)	T104M	probably damaging	Het
BC048562	G	T	9: 108,313,777 (GRCm39)	W9L	probably damaging	Het
Cachd1	T	A	4: 100,838,203 (GRCm39)	M822K	probably damaging	Het
Clec4g	C	A	8: 3,768,441 (GRCm39)	V97L	probably benign	Het
Ddx19a	G	A	8: 111,707,263 (GRCm39)	Q176*	probably null	Het
Eml6	T	C	11: 29,710,096 (GRCm39)	H1413R	probably damaging	Het
Fam161b	C	T	12: 84,395,408 (GRCm39)	V512M	probably damaging	Het
Glcci1	A	T	6: 8,537,835 (GRCm39)	Q151L	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Gpnmb	A	T	6: 49,024,775 (GRCm39)	D269V	probably damaging	Het
Gpx3	A	T	11: 54,800,375 (GRCm39)	D191V	probably damaging	Het
Grm4	C	T	17: 27,653,712 (GRCm39)	C491Y	probably damaging	Het
H2-M10.4	T	A	17: 36,771,533 (GRCm39)	H215L	probably damaging	Het
Hrc	T	A	7: 44,984,909 (GRCm39)	L20Q	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Hydin	A	T	8: 111,322,099 (GRCm39)	I4584L	probably benign	Het
Ift70a2	A	T	2: 75,807,630 (GRCm39)	L294Q	probably damaging	Het
Ints5	T	A	19: 8,873,931 (GRCm39)	I630K	possibly damaging	Het
Kctd10	A	G	5: 114,503,764 (GRCm39)	I296T	possibly damaging	Het
Macf1	A	G	4: 123,365,546 (GRCm39)	S1507P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Ms4a4d	T	C	19: 11,526,004 (GRCm39)		probably null	Het
Net1	C	T	13: 3,943,379 (GRCm39)	A3T	probably benign	Het
Nlrp2	T	C	7: 5,303,908 (GRCm39)	M206V	probably benign	Het
Or1j1	C	T	2: 36,702,444 (GRCm39)	R220H	probably benign	Het
Or5an1b	T	A	19: 12,299,505 (GRCm39)	I229F	probably damaging	Het
Pcyox1l	T	C	18: 61,832,433 (GRCm39)	I205V	probably benign	Het
Pigo	A	G	4: 43,019,645 (GRCm39)		probably null	Het
Pla2g6	A	T	15: 79,173,893 (GRCm39)	S590T	possibly damaging	Het
Pwp2	T	C	10: 78,013,605 (GRCm39)	T539A	possibly damaging	Het
Rag1	T	C	2: 101,473,079 (GRCm39)	T688A	probably benign	Het
Senp7	A	G	16: 55,990,279 (GRCm39)	T676A	probably benign	Het
Slc26a6	T	C	9: 108,738,499 (GRCm39)		probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Sorbs2	A	G	8: 46,272,778 (GRCm39)	H653R	probably damaging	Het
Stk3	T	A	15: 35,114,706 (GRCm39)	K67*	probably null	Het
Tctn2	A	ACC	5: 124,762,400 (GRCm39)		probably benign	Homo
Ttn	T	C	2: 76,540,395 (GRCm39)	Y34197C	probably damaging	Het
Ufc1	A	C	1: 171,117,746 (GRCm39)	L56R	probably damaging	Het
Usp34	T	A	11: 23,394,202 (GRCm39)		probably null	Het
Vnn3	T	A	10: 23,727,483 (GRCm39)	M1K	probably null	Het
Zfp653	C	A	9: 21,969,099 (GRCm39)		probably null	Het

Other mutations in Ltv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ltv1	APN	10	13,066,327 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGCAGGATGTAGCTTTGATG -3'
(R):5'- CAGGTGACTTATGACCTGTTGG -3'

Sequencing Primer
(F):5'- GCATGGGAAAGTGTTCAG -3'
(R):5'- ACTTATGACCTGTTGGCTTTAGG -3'

Posted On

2016-08-04