Mutagenetix > Incidental Mutation

Incidental Mutation 'R9468:Alyref'

715297

Institutional Source

Beutler Lab

Gene Symbol

Alyref

Ensembl Gene

ENSMUSG00000025134

Gene Name

Aly/REF export factor

Synonyms

Refbp1, REF1, Thoc4

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R9468 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120485330-120489342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120486790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 157 (D157V)

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 damaging
Transcript: ENSMUST00000026125
AA Change: D157V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026125
Gene: ENSMUSG00000025134
AA Change: D157V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	T	A	1: 161,784,736 (GRCm39)	N68Y	probably damaging	Het
Acsf3	A	T	8: 123,539,769 (GRCm39)	I466F	probably damaging	Het
Akr1b7	T	C	6: 34,392,316 (GRCm39)	I43T	probably benign	Het
Anapc2	T	C	2: 25,163,132 (GRCm39)	L123P	possibly damaging	Het
Catsperg2	A	T	7: 29,409,432 (GRCm39)		probably null	Het
Ccz1	G	T	5: 143,929,438 (GRCm39)	T330K	probably benign	Het
Chordc1	T	A	9: 18,213,425 (GRCm39)	F92Y	probably benign	Het
Cyp2c29	A	T	19: 39,296,166 (GRCm39)	D199V	probably benign	Het
Cyp2c70	A	G	19: 40,168,889 (GRCm39)	S133P	probably damaging	Het
Dync1li2	G	A	8: 105,147,258 (GRCm39)	P479S	probably benign	Het
Fcmr	G	T	1: 130,801,951 (GRCm39)	K68N	possibly damaging	Het
Frmpd2	T	A	14: 33,266,432 (GRCm39)	D949E	possibly damaging	Het
Fscn2	A	G	11: 120,253,283 (GRCm39)	E250G	probably damaging	Het
Grk2	A	T	19: 4,344,952 (GRCm39)	I39N	probably damaging	Het
Hmmr	T	A	11: 40,614,314 (GRCm39)	R125*	probably null	Het
Jarid2	T	A	13: 45,073,306 (GRCm39)	C1195S	probably damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif24	A	T	4: 41,404,794 (GRCm39)	I402N	probably damaging	Het
Kmt2b	A	G	7: 30,284,513 (GRCm39)	V793A	probably damaging	Het
Kntc1	T	C	5: 123,954,776 (GRCm39)	Y2065H	probably damaging	Het
Krt5	C	A	15: 101,615,980 (GRCm39)	S545I	unknown	Het
Larp1b	A	T	3: 40,930,990 (GRCm39)	I290L	probably benign	Het
Lnx2	C	T	5: 146,979,289 (GRCm39)		probably benign	Het
Lonrf2	A	G	1: 38,839,839 (GRCm39)	S419P	probably damaging	Het
Lrrc19	A	T	4: 94,526,521 (GRCm39)	D345E	probably benign	Het
Micu3	T	A	8: 40,807,422 (GRCm39)	L251*	probably null	Het
Mucl1	G	T	15: 103,784,035 (GRCm39)	T57N	possibly damaging	Het
Myh8	C	T	11: 67,197,730 (GRCm39)	R1866W	probably damaging	Het
Ndc80	G	A	17: 71,806,306 (GRCm39)	Q583*	probably null	Het
Nrap	G	A	19: 56,330,632 (GRCm39)	T1143I	possibly damaging	Het
Nrde2	A	G	12: 100,106,268 (GRCm39)	V523A	probably benign	Het
Or12e9	T	A	2: 87,202,116 (GRCm39)	V80E	probably damaging	Het
Or2at4	A	T	7: 99,385,180 (GRCm39)	I277F	possibly damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or5p70	C	T	7: 107,994,849 (GRCm39)	P174L	possibly damaging	Het
Pcdhb16	T	A	18: 37,611,482 (GRCm39)	S147R	probably damaging	Het
Phf21b	T	C	15: 84,689,299 (GRCm39)	T76A	probably damaging	Het
Pknox2	A	G	9: 36,822,495 (GRCm39)	V218A	probably benign	Het
Plekhg3	C	T	12: 76,607,009 (GRCm39)	T23I	probably damaging	Het
Ptprb	A	G	10: 116,113,274 (GRCm39)	T85A	probably benign	Het
Ptprc	A	G	1: 138,044,754 (GRCm39)	L36P	probably benign	Het
Rasgrf1	A	G	9: 89,880,756 (GRCm39)	Q834R	probably benign	Het
Rnft1	G	A	11: 86,381,242 (GRCm39)	V211I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,772,510 (GRCm39)	L2468F	probably damaging	Het
Scaf4	C	T	16: 90,026,287 (GRCm39)	A1177T	unknown	Het
Sec14l3	A	G	11: 4,025,200 (GRCm39)	Y270C	probably damaging	Het
Serpind1	A	T	16: 17,154,179 (GRCm39)	K2I	possibly damaging	Het
Slc6a20b	A	G	9: 123,439,416 (GRCm39)	S138P	probably damaging	Het
Son	T	A	16: 91,454,439 (GRCm39)	M1062K	possibly damaging	Het
Sorl1	T	C	9: 42,035,384 (GRCm39)	E9G	probably benign	Het
Spmip9	T	C	6: 70,890,627 (GRCm39)	Q55R	probably benign	Het
Stx16	T	C	2: 173,933,327 (GRCm39)	L102P	probably damaging	Het
Syt12	A	T	19: 4,497,744 (GRCm39)	S413T	probably damaging	Het
Tie1	A	G	4: 118,333,376 (GRCm39)	L830P	probably damaging	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Tnfrsf19	A	G	14: 61,261,623 (GRCm39)	S59P	possibly damaging	Het
Tpk1	T	C	6: 43,536,901 (GRCm39)	D54G	probably benign	Het
Trim39	G	T	17: 36,571,492 (GRCm39)	T422K	probably benign	Het
Ttn	T	G	2: 76,536,112 (GRCm39)	E35082A		Het
Vac14	T	A	8: 111,397,738 (GRCm39)	D484E	probably benign	Het
Vmn1r158	G	T	7: 22,489,888 (GRCm39)	T107N	probably damaging	Het
Vmn1r51	T	A	6: 90,106,930 (GRCm39)	I282N	probably damaging	Het
Vps26a	A	T	10: 62,300,516 (GRCm39)	Y217N	probably damaging	Het
Zfp942	G	A	17: 22,148,422 (GRCm39)	T69I	probably benign	Het
Zmym4	A	G	4: 126,800,993 (GRCm39)	S536P	probably benign	Het
Znrf3	A	G	11: 5,288,696 (GRCm39)	V24A	probably damaging	Het
Zranb3	A	G	1: 127,891,496 (GRCm39)		probably null	Het
Zzef1	T	C	11: 72,814,009 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCACAAGAGGTTGGTCCAGATG -3'
(R):5'- TGGCTGTCAGTCAAGTACCTC -3'

Sequencing Primer
(F):5'- TCCAGATGTGTGGGGCAGC -3'
(R):5'- GGCTGTCAGTCAAGTACCTCTAAAG -3'

Posted On

2022-06-15