Mutagenetix > Incidental Mutation

Incidental Mutation 'R9455:Ltv1'

714542

Institutional Source

Beutler Lab

Gene Symbol

Ltv1

Ensembl Gene

ENSMUSG00000019814

Gene Name

LTV1 ribosome biogenesis factor

Synonyms

2610020N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9455 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13054341-13068881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13058117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 229 (E229G)

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: E229G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814
AA Change: E229G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,353,897 (GRCm39)	Y3740H	probably damaging	Het
Acsl6	G	T	11: 54,210,752 (GRCm39)		probably benign	Het
Adamts5	C	T	16: 85,667,017 (GRCm39)	D492N	probably damaging	Het
Als2	T	C	1: 59,219,296 (GRCm39)	E1218G	probably damaging	Het
Bcl2l15	C	T	3: 103,743,369 (GRCm39)	T90I	unknown	Het
Bsn	A	G	9: 107,988,531 (GRCm39)	V2407A	unknown	Het
Casp8ap2	T	C	4: 32,643,924 (GRCm39)	M999T	possibly damaging	Het
Ccdc66	G	A	14: 27,208,872 (GRCm39)	P461S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cep295	A	T	9: 15,245,046 (GRCm39)	S1137T	possibly damaging	Het
Chd7	A	G	4: 8,752,061 (GRCm39)	Y186C	unknown	Het
Clca3b	T	A	3: 144,529,023 (GRCm39)	T884S	unknown	Het
Cndp2	T	A	18: 84,690,246 (GRCm39)	Y232F	probably benign	Het
Cx3cr1	A	T	9: 119,880,659 (GRCm39)	Y248N	probably damaging	Het
Dnm3	A	T	1: 162,148,524 (GRCm39)	N282K	possibly damaging	Het
Emilin2	T	C	17: 71,581,485 (GRCm39)	I414V	probably benign	Het
F3	A	T	3: 121,527,866 (GRCm39)	N288I	probably damaging	Het
Fat4	T	C	3: 38,945,412 (GRCm39)	L1435P		Het
Fbxw14	A	T	9: 109,103,567 (GRCm39)	N371K	probably benign	Het
Firrm	G	T	1: 163,781,721 (GRCm39)	T902K	probably benign	Het
Fn1	T	A	1: 71,647,112 (GRCm39)	E1559D	probably benign	Het
Frrs1	T	A	3: 116,695,972 (GRCm39)	M497K	possibly damaging	Het
Gm45861	C	T	8: 28,041,394 (GRCm39)	Q1000*	probably null	Het
Gpr152	T	C	19: 4,193,844 (GRCm39)	S462P	probably benign	Het
Irgq	A	G	7: 24,231,217 (GRCm39)	N136S	probably benign	Het
Kdm2b	T	C	5: 123,099,537 (GRCm39)	Y134C	probably damaging	Het
Klf12	A	T	14: 100,347,226 (GRCm39)	L35H	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ksr1	A	T	11: 78,911,602 (GRCm39)	C727S	possibly damaging	Het
Lpin3	G	T	2: 160,737,259 (GRCm39)	R102L	probably benign	Het
Ly6f	T	A	15: 75,141,648 (GRCm39)	Y30*	probably null	Het
Map2k7	C	G	8: 4,293,957 (GRCm39)	R168G	probably damaging	Het
Mep1a	T	C	17: 43,805,867 (GRCm39)	E100G	probably benign	Het
Mrgpra6	T	A	7: 46,838,967 (GRCm39)	Y46F	probably damaging	Het
Mroh6	C	A	15: 75,759,905 (GRCm39)	R143L	probably benign	Het
Myom2	T	A	8: 15,156,293 (GRCm39)	H713Q	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Or51b6	G	T	7: 103,556,200 (GRCm39)	V182F		Het
Pear1	T	A	3: 87,666,488 (GRCm39)	T72S	possibly damaging	Het
Sel1l3	T	A	5: 53,289,157 (GRCm39)	N888I	probably damaging	Het
Sell	A	T	1: 163,894,218 (GRCm39)	T171S	probably benign	Het
Semp2l1	A	T	1: 32,585,907 (GRCm39)	M1K	probably null	Het
Sin3b	G	T	8: 73,450,681 (GRCm39)	A37S	possibly damaging	Het
Sipa1l1	T	C	12: 82,434,399 (GRCm39)	F723S	probably damaging	Het
Slc26a8	T	C	17: 28,863,588 (GRCm39)	T724A	probably damaging	Het
Slc51a	T	G	16: 32,305,013 (GRCm39)	N25H	probably damaging	Het
Slc9a4	T	C	1: 40,668,612 (GRCm39)	F752L	probably benign	Het
Slco4a1	A	C	2: 180,115,370 (GRCm39)	D649A	probably benign	Het
Tax1bp1	T	A	6: 52,743,029 (GRCm39)	H805Q	probably damaging	Het
Tgfb1i1	T	C	7: 127,852,009 (GRCm39)	F303L	probably damaging	Het
Tsg101	A	T	7: 46,563,151 (GRCm39)	D34E	probably damaging	Het
Tspoap1	T	C	11: 87,661,359 (GRCm39)	S604P	probably damaging	Het
Ttll2	C	A	17: 7,619,692 (GRCm39)	W78C	probably damaging	Het
Ttn	A	G	2: 76,749,334 (GRCm39)	F3905S	possibly damaging	Het
Txnrd2	G	T	16: 18,248,615 (GRCm39)	C57F	probably damaging	Het
Vcan	A	T	13: 89,837,452 (GRCm39)	D2697E	probably damaging	Het
Vwa8	G	A	14: 79,300,115 (GRCm39)	V983I	probably damaging	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
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
R9608:Ltv1	UTSW	10	13,066,440 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGAGCAGGATGTAGCTTTG -3'
(R):5'- AGGTGACTTATGACCTGTTGGC -3'

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

Posted On

2022-06-15