Mutagenetix > Incidental Mutations

Incidental Mutation 'R8713:Arl6ip4'

669702

Institutional Source

Beutler Lab

Gene Symbol

Arl6ip4

Ensembl Gene

ENSMUSG00000029404

Gene Name

ADP-ribosylation factor-like 6 interacting protein 4

Synonyms

Srp25, Aip-4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124116089-124118196 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124116762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 4 (V4A)

Ref Sequence

ENSEMBL: ENSMUSP00000122377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024470] [ENSMUST00000031351] [ENSMUST00000086123] [ENSMUST00000119269] [ENSMUST00000122394] [ENSMUST00000145667] [ENSMUST00000149835] [ENSMUST00000161273] [ENSMUST00000161938] [ENSMUST00000162812] [ENSMUST00000196401] [ENSMUST00000196627] [ENSMUST00000198505] [ENSMUST00000198770]

AlphaFold

Q9JM93

Predicted Effect

probably benign
Transcript: ENSMUST00000024470

SMART Domains

Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	100	2e-6	BLAST
low complexity region	102	112	N/A	INTRINSIC
P4Hc	136	307	7.91e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031351

SMART Domains

Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
Pfam:SR-25	7	227	2.7e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086123

SMART Domains

Protein: ENSMUSP00000083292
Gene: ENSMUSG00000029406

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119269

SMART Domains

Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	133	1e-22	BLAST
Blast:P4Hc	136	175	1e-20	BLAST
low complexity region	176	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122394

SMART Domains

Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
Pfam:SR-25	2	199	6.3e-85	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000145667
AA Change: V4A

SMART Domains

Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
AA Change: V4A

Domain	Start	End	E-Value	Type
Pfam:SR-25	19	227	3e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149835

SMART Domains

Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
low complexity region	5	32	N/A	INTRINSIC
SCOP:d1l9ha_	58	84	7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161273

SMART Domains

Protein: ENSMUSP00000124292
Gene: ENSMUSG00000029406

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	3.2e-129	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	945	7.5e-100	SMART
LNS2	1090	1221	3.1e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161938

SMART Domains

Protein: ENSMUSP00000124111
Gene: ENSMUSG00000029406

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	251	7.5e-116	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
Blast:DDHD	422	670	2e-65	BLAST
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	949	8.37e-104	SMART
LNS2	1094	1225	3.22e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162812

SMART Domains

Protein: ENSMUSP00000124740
Gene: ENSMUSG00000029406

Domain	Start	End	E-Value	Type
Pfam:IP_trans	1	253	6.1e-132	PFAM
low complexity region	298	319	N/A	INTRINSIC
low complexity region	333	344	N/A	INTRINSIC
low complexity region	507	515	N/A	INTRINSIC
Blast:DDHD	548	570	6e-7	BLAST
low complexity region	571	589	N/A	INTRINSIC
low complexity region	608	630	N/A	INTRINSIC
low complexity region	682	689	N/A	INTRINSIC
DDHD	701	895	1.66e-98	SMART
LNS2	1040	1171	3.22e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196401

SMART Domains

Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
low complexity region	29	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196627

SMART Domains

Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	133	1e-23	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000198505

SMART Domains

Protein: ENSMUSP00000142965
Gene: ENSMUSG00000023707

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198770

SMART Domains

Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707

Domain	Start	End	E-Value	Type
Blast:P4Hc	11	102	7e-24	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000199457

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
Cabp4	C	T	19: 4,136,160	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621		probably benign	Het
Fbxw15	A	C	9: 109,555,599	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863	E136*	probably null	Het
Macc1	T	C	12: 119,443,526		probably benign	Het
Macrod1	T	C	19: 7,057,126	L79P	probably benign	Het
Map2	T	A	1: 66,414,622	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991	R105C	probably damaging	Het
Mtg1	T	A	7: 140,137,775		probably null	Het
Mtg1	T	C	7: 140,140,223	F68L	probably benign	Het
Nfil3	A	G	13: 52,968,011	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817	D117G	possibly damaging	Het
Plce1	T	C	19: 38,524,901	C215R	probably benign	Het
Rrm1	T	G	7: 102,460,351	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585	*501Q	probably null	Het
Slc6a19	C	A	13: 73,700,621	V5L	probably benign	Het
Spryd3	A	G	15: 102,133,485	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,625,019	S1713P	probably benign	Het
Thap12	C	T	7: 98,707,076	L57F	probably benign	Het
Top1	G	A	2: 160,717,440	V628I	probably damaging	Het
Trim67	A	G	8: 124,820,335	M495V	probably null	Het
Trio	A	C	15: 27,743,951		probably benign	Het
Vmn2r23	A	T	6: 123,703,032	Y71F		Het
Ywhah	A	G	5: 33,027,191	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532	I125T	probably benign	Het

Other mutations in Arl6ip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03079:Arl6ip4	APN	5	124116927	missense	possibly damaging	0.93
R0612:Arl6ip4	UTSW	5	124116533	missense	probably benign	0.32
R2436:Arl6ip4	UTSW	5	124116599	missense	probably benign	0.19
R6030:Arl6ip4	UTSW	5	124117905	critical splice donor site	probably null
R6030:Arl6ip4	UTSW	5	124117905	critical splice donor site	probably null
R6762:Arl6ip4	UTSW	5	124117050	unclassified	probably benign
R6789:Arl6ip4	UTSW	5	124116602	missense	probably damaging	1.00
R6906:Arl6ip4	UTSW	5	124116551	missense	possibly damaging	0.45
R8190:Arl6ip4	UTSW	5	124117032	missense	probably damaging	0.98
R8777:Arl6ip4	UTSW	5	124116548	missense	probably benign	0.02
R8777-TAIL:Arl6ip4	UTSW	5	124116548	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTGTTCAGCCTCCAGATCC -3'
(R):5'- TGAACTGGATCGCGATGTC -3'

Sequencing Primer
(F):5'- AGATCCCAGGGCCACAAGG -3'
(R):5'- AACTGGATCGCGATGTCCTCTG -3'

Posted On

2021-04-30