Mutagenetix > Incidental Mutation

Incidental Mutation 'R2436:Arl6ip4'

249576

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

040397-MU

Accession Numbers

Essential gene?

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

Stock #

R2436 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124254171-124256258 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124254662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000116269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024470] [ENSMUST00000031351] [ENSMUST00000086123] [ENSMUST00000119269] [ENSMUST00000122394] [ENSMUST00000149835] [ENSMUST00000196401] [ENSMUST00000161938] [ENSMUST00000196627] [ENSMUST00000162812] [ENSMUST00000198505] [ENSMUST00000145667] [ENSMUST00000161273] [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
AA Change: S52P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404
AA Change: S52P

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

noncoding transcript
Transcript: ENSMUST00000127989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130140

Predicted Effect

probably benign
Transcript: ENSMUST00000149835
AA Change: S52P

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404
AA Change: S52P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161479

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: 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: 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: 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: 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: ENSMUST00000145667

SMART Domains

Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404

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

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: ENSMUST00000199457

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,582,308 (GRCm39)	S277P	possibly damaging	Het
Barx2	T	C	9: 31,824,383 (GRCm39)	H2R	probably damaging	Het
Calhm3	T	C	19: 47,140,404 (GRCm39)	T230A	probably damaging	Het
Card11	C	T	5: 140,868,117 (GRCm39)	V844M	possibly damaging	Het
Dnah6	C	T	6: 73,126,156 (GRCm39)	R1327Q	probably benign	Het
Dnai4	T	C	4: 102,923,549 (GRCm39)	I427V	probably benign	Het
Ehbp1	C	A	11: 22,039,524 (GRCm39)		probably null	Het
Fgg	T	A	3: 82,921,496 (GRCm39)	I393N	possibly damaging	Het
Foxq1	A	T	13: 31,742,516 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,280,566 (GRCm39)	T646A	probably benign	Het
Homer3	G	A	8: 70,745,706 (GRCm39)	E324K	possibly damaging	Het
Krt80	A	G	15: 101,257,384 (GRCm39)	F183L	probably damaging	Het
Map3k21	A	T	8: 126,668,354 (GRCm39)	K647*	probably null	Het
Mcm3ap	A	G	10: 76,325,891 (GRCm39)	Y1067C	probably damaging	Het
Myh1	G	T	11: 67,104,097 (GRCm39)	Q921H	probably benign	Het
Nme8	A	G	13: 19,862,029 (GRCm39)	F200S	probably damaging	Het
Nploc4	T	C	11: 120,309,143 (GRCm39)	N153S	possibly damaging	Het
Or14c45	T	C	7: 86,176,591 (GRCm39)	F209L	probably damaging	Het
Or2ak6	T	C	11: 58,592,952 (GRCm39)	C142R	probably damaging	Het
Or4a73	A	G	2: 89,421,117 (GRCm39)	V114A	probably benign	Het
Or5k1	C	T	16: 58,617,607 (GRCm39)	V201I	probably benign	Het
Pipox	T	A	11: 77,782,943 (GRCm39)	L86F	probably damaging	Het
Polr3h	G	T	15: 81,801,406 (GRCm39)	L157I	probably benign	Het
Prex2	G	A	1: 11,336,376 (GRCm39)	V1525M	possibly damaging	Het
Rapgef2	A	T	3: 78,996,079 (GRCm39)	D561E	possibly damaging	Het
Sacs	A	T	14: 61,440,354 (GRCm39)	D800V	possibly damaging	Het
Sbsn	A	T	7: 30,451,655 (GRCm39)	L223F	possibly damaging	Het
Slc16a9	TCCCC	TCCCCC	10: 70,091,911 (GRCm39)		probably null	Het
Srrm3	G	T	5: 135,864,030 (GRCm39)	E43*	probably null	Het
Tcaf3	G	A	6: 42,570,663 (GRCm39)	A363V	probably damaging	Het
Tmem138	A	G	19: 10,552,268 (GRCm39)	F78S	probably damaging	Het
Tnfrsf17	G	A	16: 11,137,676 (GRCm39)	D138N	probably damaging	Het
Tubgcp6	C	T	15: 88,986,568 (GRCm39)	V1344I	probably benign	Het
Usp24	T	A	4: 106,266,842 (GRCm39)	L1875*	probably null	Het
Vmn2r109	C	A	17: 20,774,798 (GRCm39)	G186C	probably damaging	Het
Zfp541	A	G	7: 15,810,373 (GRCm39)	N137D	possibly damaging	Het

Other mutations in Arl6ip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03079:Arl6ip4	APN	5	124,254,990 (GRCm39)	missense	possibly damaging	0.93
R0612:Arl6ip4	UTSW	5	124,254,596 (GRCm39)	missense	probably benign	0.32
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

Predicted Primers

PCR Primer
(F):5'- CAGGCTAAGCGCTTTCCTTC -3'
(R):5'- AAGTCACTATGTGCCTGGCAG -3'

Sequencing Primer
(F):5'- AAGCGCTTTCCTTCCGGTC -3'
(R):5'- ACTATGTGCCTGGCAGGATCC -3'

Posted On

2014-11-12