Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Arl15'

273775

Institutional Source

Beutler Lab

Gene Symbol

Arl15

Ensembl Gene

ENSMUSG00000042348

Gene Name

ADP-ribosylation factor-like 15

Synonyms

C230032K13Rik, Arfrp2

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113931041-114293997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114104228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 102 (E102K)

Ref Sequence

ENSEMBL: ENSMUSP00000153127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091201] [ENSMUST00000224068] [ENSMUST00000224858]

AlphaFold

Q8BGR6

Predicted Effect

probably damaging
Transcript: ENSMUST00000091201
AA Change: E122K

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

SMART Domains

Protein: ENSMUSP00000088740
Gene: ENSMUSG00000042348
AA Change: E122K

Domain	Start	End	E-Value	Type
Pfam:Arf	27	194	7.7e-37	PFAM
Pfam:SRPRB	31	192	7.7e-10	PFAM
Pfam:Roc	34	146	6.5e-10	PFAM
Pfam:Ras	34	196	5.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000224068
AA Change: E102K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224858

Meta Mutation Damage Score

0.5649

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Sdk1	G	T	5: 141,992,371 (GRCm39)		probably benign	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	Het

Other mutations in Arl15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Arl15	APN	13	114,291,288 (GRCm39)	missense	probably benign	0.00
IGL01986:Arl15	APN	13	114,058,902 (GRCm39)	missense	possibly damaging	0.90
IGL02061:Arl15	APN	13	113,931,193 (GRCm39)	missense	probably benign	0.01
IGL02871:Arl15	APN	13	114,291,374 (GRCm39)	missense	probably benign	0.00
R1452:Arl15	UTSW	13	114,104,319 (GRCm39)	missense	probably benign	0.01
R2114:Arl15	UTSW	13	114,104,196 (GRCm39)	missense	probably damaging	1.00
R2115:Arl15	UTSW	13	114,104,196 (GRCm39)	missense	probably damaging	1.00
R2117:Arl15	UTSW	13	114,104,196 (GRCm39)	missense	probably damaging	1.00
R4701:Arl15	UTSW	13	114,104,261 (GRCm39)	missense	probably benign	0.26
R5977:Arl15	UTSW	13	114,070,645 (GRCm39)	missense	probably damaging	0.99
R6057:Arl15	UTSW	13	114,104,151 (GRCm39)	missense	probably damaging	1.00
R7649:Arl15	UTSW	13	114,104,208 (GRCm39)	missense	possibly damaging	0.72
R8471:Arl15	UTSW	13	114,037,632 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGACTTCAGCCCTCAGTTTC -3'
(R):5'- CTTCCTAGACTTGACAGCGG -3'

Sequencing Primer
(F):5'- GACTTCAGCCCTCAGTTTCTGAAAAG -3'
(R):5'- GCGGCCATAGTTCGACAGTG -3'

Posted On

2015-04-02