Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02210:Alyref'

284661

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: 0.955) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

120592121-120598365 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120597673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 110 (S110A)

Ref Sequence

ENSEMBL: ENSMUSP00000026125 (fasta)

Gene Model

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

AlphaFold

O08583

PDB Structure

SOLUTION STRUCTURE OF THE NUCLEAR FACTOR ALY RBD DOMAIN [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026125
AA Change: S110A

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: S110A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,687,371	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,898,526	H422L	probably damaging	Het
Adcy6	T	C	15: 98,594,971	Y908C	possibly damaging	Het
Ankrd1	T	C	19: 36,118,314	D86G	probably damaging	Het
Anpep	T	A	7: 79,826,904	Y29F	probably benign	Het
Appl1	T	C	14: 26,925,952		probably benign	Het
Arrdc5	T	C	17: 56,300,026	D73G	probably damaging	Het
Atp12a	T	A	14: 56,371,744	Y142*	probably null	Het
Clec4a3	T	A	6: 122,954,108	I52N	probably damaging	Het
Cmya5	G	A	13: 93,092,734	P1949S	probably benign	Het
Crybb2	T	A	5: 113,058,387	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,404,049	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,735,977	F337S	probably damaging	Het
F5	T	C	1: 164,190,141	S596P	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Gm5070	T	G	3: 95,410,625		noncoding transcript	Het
Hps5	T	C	7: 46,786,570	Y184C	probably benign	Het
Letmd1	T	C	15: 100,469,247		probably null	Het
Lipo5	A	T	19: 33,467,877	N97K	unknown	Het
Mis18bp1	A	T	12: 65,136,831	Y922*	probably null	Het
Mob3c	C	A	4: 115,833,755	H181N	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Nav3	T	C	10: 109,766,990	T1233A	probably benign	Het
Olfr1120	T	A	2: 87,358,003	D186E	probably damaging	Het
Olfr361	G	T	2: 37,085,619	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,389,219	E1817G	possibly damaging	Het
Pdzd3	T	G	9: 44,248,317	T461P	probably benign	Het
Phc3	A	G	3: 30,936,709	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,223,649	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,483,474		probably benign	Het
Slc29a4	T	C	5: 142,718,779	Y359H	probably damaging	Het
Sspo	T	C	6: 48,500,492	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,396,309	L280Q	probably damaging	Het
Stap1	G	A	5: 86,078,061		probably null	Het
Szt2	A	G	4: 118,389,823	V865A	possibly damaging	Het
Tmem246	A	G	4: 49,586,686	Y161H	probably benign	Het
Tnr	T	A	1: 159,852,101	V215D	probably benign	Het
Trpm1	T	C	7: 64,210,865	L288P	probably damaging	Het
Ttll5	T	A	12: 85,912,545		probably benign	Het
Usp8	T	C	2: 126,718,056		probably benign	Het
Uxs1	T	C	1: 43,750,286	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,090,869	E497G	probably damaging	Het
Xdh	T	C	17: 73,943,895	K21E	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
IGL02372:Alyref	APN	11	120594875	unclassified	probably benign
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
R9172:Alyref	UTSW	11	120596016	missense	probably benign	0.10

Posted On

2015-04-16