Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Alyref'

290981

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alyref

Ensembl Gene

ENSMUSG00000025134

Gene Name

Aly/REF export factor

Synonyms

REF1, Thoc4, Refbp1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

120592121-120598365 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 120594875 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026125] [ENSMUST00000026128] [ENSMUST00000093140]

Predicted Effect

probably benign
Transcript: ENSMUST00000026125

SMART Domains

Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134

Domain	Start	End	E-Value	Type
low complexity region	16	53	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
RRM	106	178	7.64e-20	SMART
FoP_duplication	187	255	1.33e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026128

SMART Domains

Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093140

SMART Domains

Protein: ENSMUSP00000097714
Gene: ENSMUSG00000025135

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156685

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Glb1l2	G	A	9: 26,796,476	R72C	probably damaging	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Alyref

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Alyref	APN	11	120595936	missense	possibly damaging	0.87
IGL02210:Alyref	APN	11	120597673	missense	possibly damaging	0.78
IGL02424:Alyref	APN	11	120595307	missense	probably benign	0.07
IGL03102:Alyref	APN	11	120597765	missense	possibly damaging	0.65
R0234:Alyref	UTSW	11	120598307	missense	probably damaging	1.00
R1025:Alyref	UTSW	11	120595932	missense	probably damaging	0.97
R1026:Alyref	UTSW	11	120595932	missense	probably damaging	0.97
R1951:Alyref	UTSW	11	120595932	missense	probably damaging	0.97
R1952:Alyref	UTSW	11	120595932	missense	probably damaging	0.97
R4591:Alyref	UTSW	11	120595973	missense	probably benign	0.23
R4905:Alyref	UTSW	11	120596053	splice site	probably null
R5116:Alyref	UTSW	11	120597728	missense	probably benign	0.06
R6450:Alyref	UTSW	11	120596046	missense	probably benign	0.00
R8156:Alyref	UTSW	11	120598248	missense	probably benign
R8192:Alyref	UTSW	11	120597696	missense	probably benign	0.00
R8821:Alyref	UTSW	11	120598197	frame shift	probably null

Posted On

2015-04-16