Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Arl10'

504097

Institutional Source

Beutler Lab

Gene Symbol

Arl10

Ensembl Gene

ENSMUSG00000025870

Gene Name

ADP-ribosylation factor-like 10

Synonyms

Arm1, Arl10a, ARL10

MMRRC Submission

044353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6222 (G1)

Quality Score

219.009

Status

Not validated

Chromosome

Chromosomal Location

54722828-54728941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54726644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 141 (F141L)

Ref Sequence

ENSEMBL: ENSMUSP00000026988 (fasta)

Gene Model

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

AlphaFold

Q9QXJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026988
AA Change: F141L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026988
Gene: ENSMUSG00000025870
AA Change: F141L

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

unknown
Transcript: ENSMUST00000142246
AA Change: F7L

SMART Domains

Protein: ENSMUSP00000114680
Gene: ENSMUSG00000025870
AA Change: F7L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156024
AA Change: F141L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116506
Gene: ENSMUSG00000025870
AA Change: F141L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ing2	T	C	8: 48,121,966 (GRCm39)	K194R	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Kiz	A	T	2: 146,732,981 (GRCm39)	S386C	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Or4c100	T	C	2: 88,329,614 (GRCm39)	Y62H	probably benign	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Sh2d4b	A	C	14: 40,542,694 (GRCm39)	S361A	probably damaging	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Wdr53	T	C	16: 32,075,482 (GRCm39)	V229A	probably benign	Het
Zcchc10	T	C	11: 53,223,289 (GRCm39)		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
R2380: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
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'- AGACCTCTTTGTTCAGTAAGAGAC -3'
(R):5'- CAGTGAGAAGACCAACTGGC -3'

Sequencing Primer
(F):5'- TCTCAGGAGATCTGACTGGCTC -3'
(R):5'- ACTGGCTCACCTCCCATAG -3'

Posted On

2018-02-28