Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03079:Arl6ip4'

417802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arl6ip4

Ensembl Gene

ENSMUSG00000029404

Gene Name

ADP-ribosylation factor-like 6 interacting protein 4

Synonyms

Srp25, Aip-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL03079

Quality Score

Status

Chromosome

Chromosomal Location

124254171-124256258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124254990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 59 (H59L)

Ref Sequence

ENSEMBL: ENSMUSP00000122377 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000031351
AA Change: H60L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
AA Change: H60L

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

unknown
Transcript: ENSMUST00000122394
AA Change: H31L

SMART Domains

Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404
AA Change: H31L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130140

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149835
AA Change: H60L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
AA Change: H60L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145667
AA Change: H59L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404
AA Change: H59L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159628

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: 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: 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: 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: 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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx1	T	A	10: 102,845,209 (GRCm39)	H274L	probably damaging	Het
C1ra	A	G	6: 124,496,794 (GRCm39)	Y410C	probably damaging	Het
Ceacam11	A	G	7: 17,712,361 (GRCm39)	N270S	probably benign	Het
Cmtr1	T	A	17: 29,882,267 (GRCm39)	N39K	possibly damaging	Het
Cmya5	T	C	13: 93,234,209 (GRCm39)	D293G	possibly damaging	Het
Cyp2d11	T	C	15: 82,275,167 (GRCm39)	E260G	probably damaging	Het
Dnajc13	C	T	9: 104,090,068 (GRCm39)	W700*	probably null	Het
Efemp2	G	T	19: 5,525,155 (GRCm39)	L20F	probably damaging	Het
Hars1	G	A	18: 36,903,556 (GRCm39)	L289F	probably damaging	Het
Hdlbp	A	G	1: 93,341,662 (GRCm39)		probably benign	Het
Iqgap3	A	T	3: 88,020,477 (GRCm39)	M374L	probably benign	Het
Lrig2	A	T	3: 104,398,287 (GRCm39)	W281R	probably damaging	Het
Lyg2	C	T	1: 37,946,727 (GRCm39)	E185K	possibly damaging	Het
Maml2	A	G	9: 13,532,912 (GRCm39)		probably benign	Het
Marchf11	T	C	15: 26,311,144 (GRCm39)	S207P	probably damaging	Het
Nipa2	A	T	7: 55,583,205 (GRCm39)	V180E	probably damaging	Het
Or4k6	A	T	14: 50,475,581 (GRCm39)	C254S	possibly damaging	Het
P2rx5	A	G	11: 73,055,714 (GRCm39)	D57G	possibly damaging	Het
Pxdn	T	C	12: 30,052,997 (GRCm39)	I1058T	probably damaging	Het
Rxfp3	C	A	15: 11,036,909 (GRCm39)	M154I	possibly damaging	Het
Slc3a1	T	A	17: 85,367,251 (GRCm39)	Y479*	probably null	Het
Tamalin	T	C	15: 101,128,448 (GRCm39)	V162A	probably damaging	Het
Tecrl	G	A	5: 83,442,447 (GRCm39)	H209Y	probably damaging	Het
Ttll5	T	C	12: 85,923,332 (GRCm39)	Y270H	probably damaging	Het
Usp34	A	G	11: 23,382,247 (GRCm39)	E1986G	possibly damaging	Het
Zfp719	A	G	7: 43,240,590 (GRCm39)	Y726C	probably damaging	Het
Zfp810	T	C	9: 22,195,423 (GRCm39)	E7G	probably damaging	Het

Other mutations in Arl6ip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0612:Arl6ip4	UTSW	5	124,254,596 (GRCm39)	missense	probably benign	0.32
R2436:Arl6ip4	UTSW	5	124,254,662 (GRCm39)	missense	probably benign	0.19
R6030:Arl6ip4	UTSW	5	124,255,968 (GRCm39)	critical splice donor site	probably null
R6030:Arl6ip4	UTSW	5	124,255,968 (GRCm39)	critical splice donor site	probably null
R6762:Arl6ip4	UTSW	5	124,255,113 (GRCm39)	unclassified	probably benign
R6789:Arl6ip4	UTSW	5	124,254,665 (GRCm39)	missense	probably damaging	1.00
R6906:Arl6ip4	UTSW	5	124,254,614 (GRCm39)	missense	possibly damaging	0.45
R8190:Arl6ip4	UTSW	5	124,255,095 (GRCm39)	missense	probably damaging	0.98
R8713:Arl6ip4	UTSW	5	124,254,825 (GRCm39)	missense	unknown
R8777:Arl6ip4	UTSW	5	124,254,611 (GRCm39)	missense	probably benign	0.02
R8777-TAIL:Arl6ip4	UTSW	5	124,254,611 (GRCm39)	missense	probably benign	0.02
R9261:Arl6ip4	UTSW	5	124,256,146 (GRCm39)	unclassified	probably benign

Posted On

2016-08-02