Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Arl4d'

289699

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl4d

Ensembl Gene

ENSMUSG00000034936

Gene Name

ADP-ribosylation factor-like 4D

Synonyms

Arf4l, Arfl4, Arl5, 1110036H21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

101665541-101667832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101666929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000035918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039388]

AlphaFold

Q99PE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039388
AA Change: T94A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035918
Gene: ENSMUSG00000034936
AA Change: T94A

Domain	Start	End	E-Value	Type
ARF	1	191	2.08e-44	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,620,213 (GRCm38)	T142I	probably benign	Het
Aadacl2fm2	G	A	3: 59,743,605 (GRCm38)	M49I	probably benign	Het
Acaca	A	G	11: 84,214,258 (GRCm38)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750 (GRCm38)	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638 (GRCm38)	T1597M	possibly damaging	Het
Cd22	A	G	7: 30,876,134 (GRCm38)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847 (GRCm38)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm38)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769 (GRCm38)		probably benign	Het
Col6a6	C	T	9: 105,784,101 (GRCm38)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077 (GRCm38)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845 (GRCm38)	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834 (GRCm38)		probably null	Het
Dctn2	T	C	10: 127,275,821 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,740 (GRCm38)		probably benign	Het
Dpp4	T	C	2: 62,334,644 (GRCm38)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309 (GRCm38)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390 (GRCm38)	W181*	probably null	Het
G2e3	T	A	12: 51,369,158 (GRCm38)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595 (GRCm38)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763 (GRCm38)	I572M	probably benign	Het
Gpatch2l	T	A	12: 86,256,937 (GRCm38)		probably benign	Het
Kcnq4	A	G	4: 120,715,854 (GRCm38)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216 (GRCm38)	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081 (GRCm38)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147 (GRCm38)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782 (GRCm38)	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636 (GRCm38)		probably null	Het
Or10q1	A	G	19: 13,749,934 (GRCm38)	D276G	probably benign	Het
Or11a4	A	G	17: 37,225,326 (GRCm38)	N67S	probably damaging	Het
Or5b94	T	C	19: 12,674,238 (GRCm38)	I11T	probably damaging	Het
Pls1	A	T	9: 95,784,183 (GRCm38)	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512 (GRCm38)	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117 (GRCm38)		probably null	Het
Rrp7a	T	C	15: 83,122,691 (GRCm38)	E15G	probably benign	Het
Scart2	A	T	7: 140,296,540 (GRCm38)	N526Y	probably damaging	Het
Scn1a	T	A	2: 66,277,661 (GRCm38)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215 (GRCm38)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093 (GRCm38)		probably null	Het
Tbxas1	A	G	6: 39,023,080 (GRCm38)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523 (GRCm38)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092 (GRCm38)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543 (GRCm38)	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437 (GRCm38)	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267 (GRCm38)	L34Q	probably damaging	Het

Other mutations in Arl4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02566:Arl4d	APN	11	101,667,154 (GRCm38)	missense	probably damaging	0.98
R1624:Arl4d	UTSW	11	101,667,016 (GRCm38)	missense	possibly damaging	0.94
R1793:Arl4d	UTSW	11	101,666,728 (GRCm38)	missense	probably benign	0.00
R1858:Arl4d	UTSW	11	101,666,752 (GRCm38)	missense	probably damaging	0.99
R2419:Arl4d	UTSW	11	101,666,888 (GRCm38)	missense	probably damaging	0.99
R4571:Arl4d	UTSW	11	101,667,143 (GRCm38)	missense	possibly damaging	0.88
R5919:Arl4d	UTSW	11	101,667,136 (GRCm38)	missense	probably benign	0.08
R6312:Arl4d	UTSW	11	101,667,253 (GRCm38)	makesense	probably null
R7454:Arl4d	UTSW	11	101,666,660 (GRCm38)	missense	probably benign	0.08
R8898:Arl4d	UTSW	11	101,667,001 (GRCm38)	missense	probably damaging	1.00
R8927:Arl4d	UTSW	11	101,667,066 (GRCm38)	missense	possibly damaging	0.54
R8928:Arl4d	UTSW	11	101,667,066 (GRCm38)	missense	possibly damaging	0.54
R9116:Arl4d	UTSW	11	101,666,794 (GRCm38)	missense	possibly damaging	0.94
R9571:Arl4d	UTSW	11	101,667,206 (GRCm38)	missense	possibly damaging	0.53

Posted On

2015-04-16