Mutagenetix > Incidental Mutation

Incidental Mutation 'R2380:Arl10'

248441

Institutional Source

Beutler Lab

Gene Symbol

Arl10

Ensembl Gene

ENSMUSG00000025870

Gene Name

ADP-ribosylation factor-like 10

Synonyms

Arm1, Arl10a, ARL10

MMRRC Submission

040356-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54722828-54728941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 54722962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 19 (V19L)

Ref Sequence

ENSEMBL: ENSMUSP00000116506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026988] [ENSMUST00000156024]

AlphaFold

Q9QXJ4

Predicted Effect

unknown
Transcript: ENSMUST00000026988
AA Change: V19L

SMART Domains

Protein: ENSMUSP00000026988
Gene: ENSMUSG00000025870
AA Change: V19L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
Pfam:Arf	70	231	6.6e-38	PFAM
Pfam:SRPRB	74	203	9e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135354

Predicted Effect

probably benign
Transcript: ENSMUST00000142246

SMART Domains

Protein: ENSMUSP00000114680
Gene: ENSMUSG00000025870

Domain	Start	End	E-Value	Type
Pfam:Arf	1	54	4.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156024
AA Change: V19L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116506
Gene: ENSMUSG00000025870
AA Change: V19L

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	49	N/A	INTRINSIC
Pfam:Arf	70	191	7.7e-32	PFAM
Pfam:SRPRB	74	194	6e-7	PFAM
Pfam:Miro	78	186	3e-11	PFAM

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,036 (GRCm39)	S978P	possibly damaging	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Ampd3	C	T	7: 110,399,917 (GRCm39)	T344M	probably damaging	Het
Aspm	C	T	1: 139,407,086 (GRCm39)	A1991V	probably damaging	Het
Axdnd1	A	T	1: 156,193,221 (GRCm39)	D655E	probably benign	Het
Bdp1	T	C	13: 100,196,878 (GRCm39)	H1169R	probably benign	Het
Cacna1s	T	C	1: 136,023,586 (GRCm39)	F942L	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Csmd1	A	G	8: 16,240,101 (GRCm39)	C1104R	probably damaging	Het
Dhrs7c	G	A	11: 67,706,690 (GRCm39)	V283M	probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Enpp3	T	C	10: 24,652,770 (GRCm39)	E729G	probably benign	Het
Fam169a	T	A	13: 97,255,043 (GRCm39)		probably benign	Het
Gvin-ps3	T	C	7: 105,681,374 (GRCm39)	E627G	possibly damaging	Het
Hmcn1	T	A	1: 150,441,135 (GRCm39)	M5374L	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Itgae	A	G	11: 73,036,395 (GRCm39)	E1111G	probably benign	Het
Kcmf1	A	G	6: 72,835,755 (GRCm39)		probably null	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Lig1	T	C	7: 13,037,722 (GRCm39)		probably benign	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Ncor2	A	G	5: 125,113,144 (GRCm39)	V1216A	possibly damaging	Het
Or52e3	A	T	7: 102,869,815 (GRCm39)	T297S	possibly damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp5c	A	G	7: 16,740,040 (GRCm39)	Y434H	probably damaging	Het
Pwwp2b	A	G	7: 138,835,366 (GRCm39)	E269G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Smr2l	T	G	5: 88,430,413 (GRCm39)	M103R	probably benign	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Utp6	A	G	11: 79,826,831 (GRCm39)	S582P	possibly damaging	Het
Zbtb41	T	C	1: 139,351,552 (GRCm39)	S222P	probably damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	Het

Other mutations in Arl10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Arl10	APN	13	54,726,662 (GRCm39)	missense	probably damaging	1.00
IGL02801:Arl10	APN	13	54,723,696 (GRCm39)	missense	probably benign	0.17
IGL03114:Arl10	APN	13	54,723,579 (GRCm39)	unclassified	probably benign
R0015:Arl10	UTSW	13	54,723,770 (GRCm39)	splice site	probably benign
R0976:Arl10	UTSW	13	54,723,621 (GRCm39)	unclassified	probably benign
R1223:Arl10	UTSW	13	54,726,744 (GRCm39)	missense	probably damaging	1.00
R2125:Arl10	UTSW	13	54,726,937 (GRCm39)	splice site	probably null
R2239:Arl10	UTSW	13	54,722,962 (GRCm39)	missense	probably benign	0.23
R5828:Arl10	UTSW	13	54,726,768 (GRCm39)	missense	probably damaging	1.00
R6222:Arl10	UTSW	13	54,726,644 (GRCm39)	missense	probably damaging	0.99
R6602:Arl10	UTSW	13	54,726,750 (GRCm39)	missense	probably damaging	1.00
R9186:Arl10	UTSW	13	54,726,620 (GRCm39)	missense	probably damaging	1.00
Z1176:Arl10	UTSW	13	54,728,537 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGAAGGGACTCAACAGGTCC -3'
(R):5'- ACTGCGCTTACTGCACTGTC -3'

Sequencing Primer
(F):5'- CACACTGGTCAGGGAGTGG -3'
(R):5'- TACTGCACTGTCGCCTGG -3'

Posted On

2014-11-11