Mutagenetix > Incidental Mutation

Incidental Mutation 'R6271:Ltv1'

507341

Institutional Source

Beutler Lab

Gene Symbol

Ltv1

Ensembl Gene

ENSMUSG00000019814

Gene Name

LTV1 ribosome biogenesis factor

Synonyms

2610020N02Rik

MMRRC Submission

044379-MU

Accession Numbers

Essential gene?

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

Stock #

R6271 (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 13055445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 352 (Y352C)

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: Y352C

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

SMART Domains

Protein: ENSMUSP00000019950
Gene: ENSMUSG00000019814
AA Change: Y352C

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 132,792,035 (GRCm39)	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,623,230 (GRCm39)	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,615,879 (GRCm39)	D547G	probably benign	Het
B3gat2	T	C	1: 23,854,342 (GRCm39)	L212P	probably damaging	Het
Babam2	G	T	5: 32,158,706 (GRCm39)	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,322,753 (GRCm39)	S618R	possibly damaging	Het
Ces2c	G	A	8: 105,578,748 (GRCm39)	G342D	probably damaging	Het
Cfap57	A	C	4: 118,452,956 (GRCm39)	D582E	probably benign	Het
Cisd2	T	C	3: 135,114,627 (GRCm39)	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,661,159 (GRCm39)	F42L	probably benign	Het
Fam234a	T	C	17: 26,437,211 (GRCm39)	D156G	probably benign	Het
Fer1l6	T	A	15: 58,513,767 (GRCm39)	I1554K	probably benign	Het
Fv1	A	G	4: 147,954,474 (GRCm39)	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,831,643 (GRCm39)	C361S	probably benign	Het
Grin3a	T	C	4: 49,792,516 (GRCm39)	I406V	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifna13	A	C	4: 88,562,082 (GRCm39)	L181V	possibly damaging	Het
Irx4	A	G	13: 73,414,713 (GRCm39)		probably null	Het
Kcna3	T	A	3: 106,944,922 (GRCm39)	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,559,957 (GRCm39)	V347D	probably damaging	Het
Kng2	A	T	16: 22,822,698 (GRCm39)	V218E	probably benign	Het
Krt36	G	A	11: 99,995,298 (GRCm39)	Q167*	probably null	Het
Lama2	T	C	10: 26,899,325 (GRCm39)	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,318,599 (GRCm39)		probably null	Het
Lhfpl3	G	T	5: 22,951,242 (GRCm39)	A18S	probably benign	Het
Lrrk1	A	G	7: 65,956,851 (GRCm39)		probably null	Het
Lyst	G	T	13: 13,833,339 (GRCm39)	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059 (GRCm39)		probably null	Het
Myo18a	A	G	11: 77,711,635 (GRCm39)	H626R	probably damaging	Het
Nop9	A	C	14: 55,991,198 (GRCm39)	Q618H	probably damaging	Het
Or12k5	T	C	2: 36,895,554 (GRCm39)	Q24R	probably damaging	Het
Or4c12b	T	C	2: 89,646,906 (GRCm39)	S73P	probably damaging	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Or8c9	T	C	9: 38,241,578 (GRCm39)	S232P	probably benign	Het
Otog	C	A	7: 45,901,464 (GRCm39)	Q388K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,011,508 (GRCm39)	V476G	probably damaging	Het
Parp10	T	C	15: 76,126,202 (GRCm39)	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,829,735 (GRCm39)	S728P	probably benign	Het
Piezo1	G	T	8: 123,221,671 (GRCm39)	H574Q	probably damaging	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Preb	C	A	5: 31,115,395 (GRCm39)	V255F	probably damaging	Het
Prmt9	A	G	8: 78,304,092 (GRCm39)	N725S	probably damaging	Het
Ric1	A	T	19: 29,544,765 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,584,572 (GRCm39)	D446V	probably damaging	Het
Serinc3	G	C	2: 163,472,896 (GRCm39)	L245V	probably benign	Het
Sgce	T	C	6: 4,730,015 (GRCm39)	K70E	possibly damaging	Het
Simc1	T	G	13: 54,687,537 (GRCm39)	V102G	probably damaging	Het
Slc66a3	T	C	12: 17,047,704 (GRCm39)	D76G	probably damaging	Het
Smyd2	A	G	1: 189,616,049 (GRCm39)	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,050,660 (GRCm39)	H2310N	probably benign	Het
Syne1	T	C	10: 5,184,652 (GRCm39)	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,937,155 (GRCm39)	A251E	probably damaging	Het
Taok1	A	T	11: 77,464,609 (GRCm39)	L159Q	probably damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Timeless	T	C	10: 128,086,593 (GRCm39)	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,405,536 (GRCm39)	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,692,039 (GRCm39)	T46S	probably benign	Het
Ubiad1	A	T	4: 148,521,083 (GRCm39)	Y180*	probably null	Het
Usp47	A	G	7: 111,686,263 (GRCm39)	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,283,145 (GRCm39)	T280A	probably benign	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
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'- TACTAGCACTGTGAGAAAGGGC -3'
(R):5'- CTCGGCTGCCAAAAGTATGAAAG -3'

Sequencing Primer
(F):5'- TGTAGAAGGCAGCACATCCTCTTC -3'
(R):5'- GAGAAAGACTTAGACTATGATTGCTC -3'

Posted On

2018-03-15