Mutagenetix > Incidental Mutation

Incidental Mutation 'R8156:Alyref'

633328

Institutional Source

Beutler Lab

Gene Symbol

Alyref

Ensembl Gene

ENSMUSG00000025134

Gene Name

Aly/REF export factor

Synonyms

Refbp1, REF1, Thoc4

MMRRC Submission

067582-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R8156 (G1)

Quality Score

83.0076

Status

Not validated

Chromosome

Chromosomal Location

120485330-120489342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120489074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 31 (R31G)

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

probably benign
Transcript: ENSMUST00000026125
AA Change: R31G

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

SMART Domains

Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: R31G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.8%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	GTGTGCAGAAACT	GT	2: 166,676,383 (GRCm39)	92	probably null	Het
Arhgap31	G	T	16: 38,445,991 (GRCm39)	A118E	probably damaging	Het
Asb5	T	A	8: 55,003,541 (GRCm39)	I21K	probably damaging	Het
Asxl2	A	G	12: 3,546,760 (GRCm39)	I515V	probably benign	Het
Bend7	C	T	2: 4,757,665 (GRCm39)	P236S	probably benign	Het
C4bp	T	C	1: 130,566,824 (GRCm39)	T351A	probably benign	Het
Cd1d2	T	A	3: 86,894,569 (GRCm39)		probably null	Het
Chd1	T	A	17: 15,981,666 (GRCm39)	D1368E	probably benign	Het
Chrnb3	A	G	8: 27,883,682 (GRCm39)	I140V	probably benign	Het
Cip2a	A	G	16: 48,817,825 (GRCm39)	D65G	probably damaging	Het
Col6a2	T	C	10: 76,432,625 (GRCm39)	T843A	possibly damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Dop1a	A	G	9: 86,376,510 (GRCm39)	D248G	probably damaging	Het
Dtna	T	A	18: 23,723,388 (GRCm39)	C197*	probably null	Het
Flg2	T	C	3: 93,127,390 (GRCm39)	S2101P	unknown	Het
Foxg1	A	G	12: 49,431,429 (GRCm39)	H54R	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr35	A	G	1: 92,910,437 (GRCm39)	T50A	probably damaging	Het
Gsta3	A	T	1: 21,330,322 (GRCm39)	Y108F	probably benign	Het
Hdac4	G	T	1: 91,886,138 (GRCm39)	A811E	probably damaging	Het
Hephl1	A	T	9: 14,972,210 (GRCm39)	V910E	possibly damaging	Het
Kcnb2	A	T	1: 15,780,280 (GRCm39)	Y384F	probably damaging	Het
Kmt2a	T	C	9: 44,733,686 (GRCm39)	I2210M	unknown	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lrriq1	A	G	10: 102,992,196 (GRCm39)		probably null	Het
Lsm4	G	A	8: 71,131,018 (GRCm39)	G112S	probably damaging	Het
Myt1	T	C	2: 181,464,554 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,746 (GRCm39)	R396G	probably benign	Het
Or10ag56	A	C	2: 87,139,318 (GRCm39)	I82L	probably damaging	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Prdm2	A	G	4: 142,861,338 (GRCm39)	S651P	probably benign	Het
Prkaa2	T	C	4: 104,909,172 (GRCm39)	M91V	probably benign	Het
Pskh1	G	A	8: 106,640,226 (GRCm39)	R302H	probably benign	Het
Rab11fip4	A	G	11: 79,577,415 (GRCm39)	T390A	probably benign	Het
Snx10	T	C	6: 51,538,999 (GRCm39)		probably benign	Het
Taar5	T	C	10: 23,847,393 (GRCm39)	C264R	probably damaging	Het
Tcf20	A	G	15: 82,737,138 (GRCm39)	C1438R	probably benign	Het
Tfap2d	A	G	1: 19,173,486 (GRCm39)	T3A	probably benign	Het
Toporsl	A	G	4: 52,609,975 (GRCm39)		probably benign	Het
Trim71	A	G	9: 114,342,192 (GRCm39)	S697P	probably benign	Het
Ufl1	T	C	4: 25,269,057 (GRCm39)	D258G	probably damaging	Het
Vmn1r28	T	C	6: 58,242,183 (GRCm39)	Y9H	probably damaging	Het
Zfp995	T	A	17: 22,099,115 (GRCm39)	H373L	probably damaging	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
IGL02210:Alyref	APN	11	120,488,499 (GRCm39)	missense	possibly damaging	0.78
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGCGTCCCGGAAGATCCT -3'
(R):5'- CCGCGCGGGAATGTATAAAA -3'

Sequencing Primer
(F):5'- AAGATCCTGGCCTCGGG -3'
(R):5'- TGTATAAAAACGACCGCGCCG -3'

Posted On

2020-06-30