Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Phax'

300904

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phax

Ensembl Gene

ENSMUSG00000008301

Gene Name

phosphorylated adaptor for RNA export

Synonyms

Rnuxa, Phax, 4933427L19Rik, D18Ertd65e, p55, 2810055C14Rik, phosphorylation regulated

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

56695641-56720784 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 56717372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 250 (R250*)

Ref Sequence

ENSEMBL: ENSMUSP00000122948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008445] [ENSMUST00000035640] [ENSMUST00000127591] [ENSMUST00000130163]

AlphaFold

Q9JJT9

Predicted Effect

probably null
Transcript: ENSMUST00000008445
AA Change: R272*

SMART Domains

Protein: ENSMUSP00000008445
Gene: ENSMUSG00000008301
AA Change: R272*

Domain	Start	End	E-Value	Type
low complexity region	55	69	N/A	INTRINSIC
low complexity region	81	91	N/A	INTRINSIC
low complexity region	145	153	N/A	INTRINSIC
Pfam:RNA_GG_bind	221	304	2.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035640

SMART Domains

Protein: ENSMUSP00000038152
Gene: ENSMUSG00000032900

Domain	Start	End	E-Value	Type
Pfam:DUF4513	3	140	9.3e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127591

SMART Domains

Protein: ENSMUSP00000117284
Gene: ENSMUSG00000032900

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	72	2.7e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130163
AA Change: R250*

SMART Domains

Protein: ENSMUSP00000122948
Gene: ENSMUSG00000008301
AA Change: R250*

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	59	69	N/A	INTRINSIC
low complexity region	123	131	N/A	INTRINSIC
Pfam:RNA_GG_bind	199	282	2.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132628

SMART Domains

Protein: ENSMUSP00000119047
Gene: ENSMUSG00000008301

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	38	52	N/A	INTRINSIC
low complexity region	64	74	N/A	INTRINSIC
low complexity region	128	136	N/A	INTRINSIC
Pfam:RNA_GG_bind	204	251	3.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147775

SMART Domains

Protein: ENSMUSP00000115084
Gene: ENSMUSG00000032900

Domain	Start	End	E-Value	Type
Pfam:DUF4513	1	82	8.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153248

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Riok3	C	T	18: 12,276,017 (GRCm39)	R238C	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	Het

Other mutations in Phax

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03179:Phax	APN	18	56,713,364 (GRCm39)	missense	probably damaging	1.00
R0103:Phax	UTSW	18	56,695,785 (GRCm39)	missense	probably benign	0.16
R1869:Phax	UTSW	18	56,706,176 (GRCm39)	missense	probably benign	0.00
R2507:Phax	UTSW	18	56,719,956 (GRCm39)	missense	probably damaging	0.96
R2974:Phax	UTSW	18	56,706,134 (GRCm39)	missense	probably benign	0.09
R4079:Phax	UTSW	18	56,709,051 (GRCm39)	missense	possibly damaging	0.92
R4945:Phax	UTSW	18	56,709,063 (GRCm39)	missense	probably damaging	0.99
R5526:Phax	UTSW	18	56,717,382 (GRCm39)	missense	probably damaging	1.00
R5988:Phax	UTSW	18	56,708,564 (GRCm39)	missense	probably benign	0.03
R5990:Phax	UTSW	18	56,708,675 (GRCm39)	missense	probably benign
R6341:Phax	UTSW	18	56,706,173 (GRCm39)	missense	possibly damaging	0.85
R6524:Phax	UTSW	18	56,720,074 (GRCm39)	missense	probably damaging	0.99
R7521:Phax	UTSW	18	56,708,990 (GRCm39)	nonsense	probably null
R8219:Phax	UTSW	18	56,708,754 (GRCm39)	missense	probably damaging	1.00
Z1176:Phax	UTSW	18	56,720,024 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16