Mutagenetix > Incidental Mutation

Incidental Mutation 'R5751:Ldc1'

446004

Institutional Source

Beutler Lab

Gene Symbol

Ldc1

Ensembl Gene

ENSMUSG00000023120

Gene Name

leucine decarboxylase 1

Synonyms

Gm853, LOC332942

MMRRC Submission

043201-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5751 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

130102902-130116194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 130114234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 61 (V61G)

Ref Sequence

ENSEMBL: ENSMUSP00000023884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023884]

AlphaFold

Q3UNZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000023884
AA Change: V61G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023884
Gene: ENSMUSG00000023120
AA Change: V61G

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	56	294	3.6e-79	PFAM
Pfam:Orn_DAP_Arg_deC	263	410	4.3e-23	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,368,893 (GRCm39)	T1704A	possibly damaging	Het
Adam6a	T	A	12: 113,508,447 (GRCm39)	D273E	possibly damaging	Het
Adgrv1	T	A	13: 81,670,355 (GRCm39)	L1610F	probably damaging	Het
Ago2	C	T	15: 73,000,172 (GRCm39)		probably null	Het
Apob	T	A	12: 8,062,619 (GRCm39)	Y87*	probably null	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp7b	A	G	8: 22,508,144 (GRCm39)	V599A	probably damaging	Het
Dnah1	T	A	14: 31,032,863 (GRCm39)	I391F	probably benign	Het
Emc2	A	G	15: 43,360,453 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,229,124 (GRCm39)	Q508K	probably benign	Het
Grpel1	C	T	5: 36,626,811 (GRCm39)	T31M	probably benign	Het
Gtf3c4	C	T	2: 28,717,511 (GRCm39)	A790T	probably damaging	Het
Hmcn1	A	G	1: 150,449,305 (GRCm39)	C115R	probably damaging	Het
Ik	G	A	18: 36,886,566 (GRCm39)	R346H	probably benign	Het
Lhx3	A	G	2: 26,091,173 (GRCm39)	S379P	probably benign	Het
Mocs1	A	G	17: 49,756,766 (GRCm39)		probably null	Het
Mycbp2	C	A	14: 103,385,986 (GRCm39)	V3457F	probably damaging	Het
Or14j7	A	T	17: 38,234,861 (GRCm39)	I135L	probably benign	Het
Or4a2	A	T	2: 89,248,031 (GRCm39)	I242N	probably damaging	Het
Or5an6	G	A	19: 12,371,780 (GRCm39)	R51K	probably benign	Het
Orc5	C	T	5: 22,704,969 (GRCm39)		probably null	Het
Phf20	T	C	2: 156,109,261 (GRCm39)	S203P	probably benign	Het
Pkd1l1	T	C	11: 8,817,204 (GRCm39)	S1815G	possibly damaging	Het
Pnpla7	T	C	2: 24,871,790 (GRCm39)	V11A	probably damaging	Het
Ranbp2	T	C	10: 58,300,086 (GRCm39)		probably null	Het
Ranbp3l	A	G	15: 9,063,169 (GRCm39)	D326G	probably damaging	Het
Rsph4a	C	T	10: 33,781,789 (GRCm39)	A213V	probably damaging	Het
Sema3b	A	G	9: 107,476,913 (GRCm39)	S570P	probably benign	Het
Spata31d1b	T	A	13: 59,866,787 (GRCm39)	C1312S	probably benign	Het
Sphkap	G	T	1: 83,253,618 (GRCm39)	T1377K	probably benign	Het
Stk32a	A	T	18: 43,438,085 (GRCm39)	R195W	possibly damaging	Het
Tacr2	T	C	10: 62,088,769 (GRCm39)	I58T	probably damaging	Het
Tmem200c	A	T	17: 69,147,547 (GRCm39)	K43N	probably damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Uckl1	A	G	2: 181,216,245 (GRCm39)	S167P	possibly damaging	Het
Vmn2r90	A	G	17: 17,954,128 (GRCm39)	Y764C	probably damaging	Het
Zan	C	T	5: 137,408,423 (GRCm39)		probably null	Het

Other mutations in Ldc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Ldc1	APN	4	130,115,518 (GRCm39)	missense	probably benign	0.01
IGL01485:Ldc1	APN	4	130,109,218 (GRCm39)	missense	probably benign	0.02
1mM(1):Ldc1	UTSW	4	130,110,374 (GRCm39)	missense	probably benign	0.04
PIT4382001:Ldc1	UTSW	4	130,112,954 (GRCm39)	missense	possibly damaging	0.94
R0762:Ldc1	UTSW	4	130,115,417 (GRCm39)	missense	probably damaging	0.98
R0846:Ldc1	UTSW	4	130,115,417 (GRCm39)	missense	probably benign	0.10
R1070:Ldc1	UTSW	4	130,112,949 (GRCm39)	missense	probably benign	0.14
R1918:Ldc1	UTSW	4	130,105,186 (GRCm39)	missense	probably benign
R2117:Ldc1	UTSW	4	130,109,156 (GRCm39)	missense	possibly damaging	0.53
R2566:Ldc1	UTSW	4	130,103,681 (GRCm39)	missense	probably benign	0.14
R4110:Ldc1	UTSW	4	130,112,967 (GRCm39)	missense	probably damaging	0.99
R5033:Ldc1	UTSW	4	130,115,408 (GRCm39)	critical splice donor site	probably null
R5658:Ldc1	UTSW	4	130,114,234 (GRCm39)	missense	probably benign	0.00
R6283:Ldc1	UTSW	4	130,115,534 (GRCm39)	missense	probably benign	0.00
R6993:Ldc1	UTSW	4	130,112,106 (GRCm39)	missense	probably damaging	1.00
R7224:Ldc1	UTSW	4	130,112,992 (GRCm39)	missense	probably damaging	1.00
R7773:Ldc1	UTSW	4	130,114,169 (GRCm39)	missense	probably damaging	1.00
R8254:Ldc1	UTSW	4	130,114,136 (GRCm39)	missense	probably benign	0.06
R8329:Ldc1	UTSW	4	130,109,156 (GRCm39)	missense	possibly damaging	0.86
R8888:Ldc1	UTSW	4	130,105,223 (GRCm39)	missense	probably benign	0.09
R8895:Ldc1	UTSW	4	130,105,223 (GRCm39)	missense	probably benign	0.09
R9262:Ldc1	UTSW	4	130,114,153 (GRCm39)	missense	possibly damaging	0.48
R9680:Ldc1	UTSW	4	130,115,527 (GRCm39)	missense	probably benign
Z1176:Ldc1	UTSW	4	130,115,497 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTCCAGAAAGTGACAGGC -3'
(R):5'- TGTTTTCCCTGGCCCTAAAA -3'

Sequencing Primer
(F):5'- CCGTGGAGAGGTGATTGGC -3'
(R):5'- TTGTAATTCCAGCACCAAGGAG -3'

Posted On

2016-11-21