Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Alyref'

378118

Institutional Source

Beutler Lab

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 #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120485330-120489342 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 120486879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097714 (fasta)

Gene Model

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

AlphaFold

O08583

Predicted Effect

probably benign
Transcript: ENSMUST00000026125
AA Change: E127D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: E127D

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 null
Transcript: ENSMUST00000026128

SMART Domains

Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

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

Predicted Effect

probably null
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

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATTCCTACAGGGAGAGGTGC -3'
(R):5'- GTAACCCAGTTGTTCGCGAC -3'

Sequencing Primer
(F):5'- GGTGCCAGCCCCAAACTC -3'
(R):5'- CCCAGTTGTTCGCGACAGTTG -3'

Posted On

2016-04-15