Mutagenetix > Incidental Mutation

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

Refbp1, REF1, Thoc4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

120485330-120489342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120488499 bp (GRCm39)

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: 142,633,097 (GRCm39)	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,788,538 (GRCm39)	H422L	probably damaging	Het
Adcy6	T	C	15: 98,492,852 (GRCm39)	Y908C	possibly damaging	Het
Ankrd1	T	C	19: 36,095,714 (GRCm39)	D86G	probably damaging	Het
Anpep	T	A	7: 79,476,652 (GRCm39)	Y29F	probably benign	Het
Appl1	T	C	14: 26,647,909 (GRCm39)		probably benign	Het
Arrdc5	T	C	17: 56,607,026 (GRCm39)	D73G	probably damaging	Het
Atp12a	T	A	14: 56,609,201 (GRCm39)	Y142*	probably null	Het
Clec4a3	T	A	6: 122,931,067 (GRCm39)	I52N	probably damaging	Het
Cmya5	G	A	13: 93,229,242 (GRCm39)	P1949S	probably benign	Het
Crybb2	T	A	5: 113,206,253 (GRCm39)	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,311,333 (GRCm39)	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,643,289 (GRCm39)	F337S	probably damaging	Het
F5	T	C	1: 164,017,710 (GRCm39)	S596P	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Gm5070	T	G	3: 95,317,936 (GRCm39)		noncoding transcript	Het
Hps5	T	C	7: 46,435,994 (GRCm39)	Y184C	probably benign	Het
Letmd1	T	C	15: 100,367,128 (GRCm39)		probably null	Het
Lipo5	A	T	19: 33,445,277 (GRCm39)	N97K	unknown	Het
Mis18bp1	A	T	12: 65,183,605 (GRCm39)	Y922*	probably null	Het
Mob3c	C	A	4: 115,690,952 (GRCm39)	H181N	probably damaging	Het
Muc4	A	T	16: 32,574,054 (GRCm39)	T711S	probably benign	Het
Nav3	T	C	10: 109,602,851 (GRCm39)	T1233A	probably benign	Het
Nherf4	T	G	9: 44,159,614 (GRCm39)	T461P	probably benign	Het
Or12e8	T	A	2: 87,188,347 (GRCm39)	D186E	probably damaging	Het
Or12k8	G	T	2: 36,975,631 (GRCm39)	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,225,053 (GRCm39)	E1817G	possibly damaging	Het
Pgap4	A	G	4: 49,586,686 (GRCm39)	Y161H	probably benign	Het
Phc3	A	G	3: 30,990,858 (GRCm39)	V420A	probably damaging	Het
Plekhn1	A	T	4: 156,308,106 (GRCm39)	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,640,818 (GRCm39)		probably benign	Het
Slc29a4	T	C	5: 142,704,534 (GRCm39)	Y359H	probably damaging	Het
Sspo	T	C	6: 48,477,426 (GRCm39)	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,238,229 (GRCm39)	L280Q	probably damaging	Het
Stap1	G	A	5: 86,225,920 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,247,020 (GRCm39)	V865A	possibly damaging	Het
Tnr	T	A	1: 159,679,671 (GRCm39)	V215D	probably benign	Het
Trpm1	T	C	7: 63,860,613 (GRCm39)	L288P	probably damaging	Het
Ttll5	T	A	12: 85,959,319 (GRCm39)		probably benign	Het
Usp8	T	C	2: 126,559,976 (GRCm39)		probably benign	Het
Uxs1	T	C	1: 43,789,446 (GRCm39)	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,244,345 (GRCm39)	E497G	probably damaging	Het
Xdh	T	C	17: 74,250,890 (GRCm39)	K21E	probably benign	Het

Other mutations in Alyref

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Alyref	APN	11	120,486,762 (GRCm39)	missense	possibly damaging	0.87
IGL02372:Alyref	APN	11	120,485,701 (GRCm39)	unclassified	probably benign
IGL02424:Alyref	APN	11	120,486,133 (GRCm39)	missense	probably benign	0.07
IGL03102:Alyref	APN	11	120,488,591 (GRCm39)	missense	possibly damaging	0.65
R0234:Alyref	UTSW	11	120,489,133 (GRCm39)	missense	probably damaging	1.00
R1025:Alyref	UTSW	11	120,486,758 (GRCm39)	missense	probably damaging	0.97
R1026:Alyref	UTSW	11	120,486,758 (GRCm39)	missense	probably damaging	0.97
R1951:Alyref	UTSW	11	120,486,758 (GRCm39)	missense	probably damaging	0.97
R1952:Alyref	UTSW	11	120,486,758 (GRCm39)	missense	probably damaging	0.97
R4591:Alyref	UTSW	11	120,486,799 (GRCm39)	missense	probably benign	0.23
R4905:Alyref	UTSW	11	120,486,879 (GRCm39)	splice site	probably null
R5116:Alyref	UTSW	11	120,488,554 (GRCm39)	missense	probably benign	0.06
R6450:Alyref	UTSW	11	120,486,872 (GRCm39)	missense	probably benign	0.00
R8156:Alyref	UTSW	11	120,489,074 (GRCm39)	missense	probably benign
R8192:Alyref	UTSW	11	120,488,522 (GRCm39)	missense	probably benign	0.00
R8821:Alyref	UTSW	11	120,489,023 (GRCm39)	frame shift	probably null
R9172:Alyref	UTSW	11	120,486,842 (GRCm39)	missense	probably benign	0.10
R9468:Alyref	UTSW	11	120,486,790 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16