Mutagenetix > Incidental Mutation

Incidental Mutation 'R2960:Arl5c'

255886

Institutional Source

Beutler Lab

Gene Symbol

Arl5c

Ensembl Gene

ENSMUSG00000038352

Gene Name

ADP-ribosylation factor-like 5C

Synonyms

Arl12

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97880404-97887007 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97885902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000103188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042971] [ENSMUST00000107563]

AlphaFold

Q6P068

Predicted Effect

probably damaging
Transcript: ENSMUST00000042971
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000037214
Gene: ENSMUSG00000038352
AA Change: L33P

Domain	Start	End	E-Value	Type
ARF	1	179	3.96e-59	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107563
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000103188
Gene: ENSMUSG00000038352
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:Arf	1	86	2.6e-29	PFAM
Pfam:SRPRB	14	88	9.1e-10	PFAM
Pfam:Miro	18	86	4e-8	PFAM
Pfam:Gtr1_RagA	18	87	7.5e-8	PFAM
Pfam:Ras	18	87	2.1e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Auh	A	T	13: 52,993,610 (GRCm39)	I268N	probably damaging	Het
Cimap2	A	G	4: 106,470,615 (GRCm39)	S186P	probably damaging	Het
Defa25	A	T	8: 21,575,273 (GRCm39)	H84L	probably benign	Het
Endou	T	C	15: 97,611,687 (GRCm39)	Y317C	probably damaging	Het
Fmn2	C	T	1: 174,437,385 (GRCm39)	L1119F	probably damaging	Het
Glyat	T	A	19: 12,617,214 (GRCm39)	L22H	probably damaging	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Grb7	C	T	11: 98,343,087 (GRCm39)	T268I	probably damaging	Het
Ints15	A	T	5: 143,293,776 (GRCm39)	F234I	probably benign	Het
Itfg2	G	A	6: 128,390,515 (GRCm39)	A190V	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mdga2	G	T	12: 66,676,752 (GRCm39)	Y513*	probably null	Het
Med8	A	G	4: 118,271,944 (GRCm39)	T222A	probably damaging	Het
Nup43	T	C	10: 7,546,713 (GRCm39)	V111A	probably benign	Het
Or9s14	A	G	1: 92,536,050 (GRCm39)	I164V	probably benign	Het
Rfx3	G	A	19: 27,878,211 (GRCm39)	Q29*	probably null	Het
Rfx8	A	G	1: 39,722,112 (GRCm39)	V291A	probably damaging	Het
Scnn1a	A	G	6: 125,299,256 (GRCm39)	Y112C	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmx3	T	C	18: 90,551,116 (GRCm39)	V252A	probably damaging	Het
Vmn1r216	A	G	13: 23,284,103 (GRCm39)	D262G	probably benign	Het
Vmn1r9	A	G	6: 57,048,657 (GRCm39)	D244G	possibly damaging	Het
Xkr6	T	A	14: 63,844,586 (GRCm39)	M203K	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het

Other mutations in Arl5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0402:Arl5c	UTSW	11	97,885,939 (GRCm39)	missense	probably damaging	1.00
R1570:Arl5c	UTSW	11	97,883,213 (GRCm39)	missense	probably benign	0.11
R2095:Arl5c	UTSW	11	97,884,277 (GRCm39)	missense	probably damaging	1.00
R3151:Arl5c	UTSW	11	97,883,159 (GRCm39)	missense	probably damaging	0.96
R4078:Arl5c	UTSW	11	97,884,327 (GRCm39)	missense	probably damaging	1.00
R4079:Arl5c	UTSW	11	97,884,327 (GRCm39)	missense	probably damaging	1.00
R4490:Arl5c	UTSW	11	97,886,662 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCTGGCGGGATCCAAATC -3'
(R):5'- AGATTGCCAAGGGATGTGTG -3'

Sequencing Primer
(F):5'- GATCCAAATCCAGGCCAGCAG -3'
(R):5'- GGAGAGAAGGCATCCATTCATCC -3'

Posted On

2014-12-29