Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01099:Ybx2'

52288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ybx2

Ensembl Gene

ENSMUSG00000018554

Gene Name

Y box protein 2

Synonyms

MSY2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

69826652-69832430 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69831556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 136 (Q136L)

Ref Sequence

ENSEMBL: ENSMUSP00000136684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018698] [ENSMUST00000018710] [ENSMUST00000108601] [ENSMUST00000141837] [ENSMUST00000149194] [ENSMUST00000179298] [ENSMUST00000178363]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018698
AA Change: Q331L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000018698
Gene: ENSMUSG00000018554
AA Change: Q331L

Domain	Start	End	E-Value	Type
low complexity region	2	68	N/A	INTRINSIC
low complexity region	71	82	N/A	INTRINSIC
CSP	96	164	2.54e-21	SMART
low complexity region	173	212	N/A	INTRINSIC
low complexity region	220	242	N/A	INTRINSIC
low complexity region	274	294	N/A	INTRINSIC
low complexity region	317	339	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000018710

SMART Domains

Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	436	3.9e-16	PFAM
Pfam:Sugar_tr	27	483	1.7e-155	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108601
AA Change: Q254L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104242
Gene: ENSMUSG00000018554
AA Change: Q254L

Domain	Start	End	E-Value	Type
CSP	19	87	2.54e-21	SMART
low complexity region	96	135	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
low complexity region	197	217	N/A	INTRINSIC
low complexity region	240	262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130377

Predicted Effect

probably benign
Transcript: ENSMUST00000141837

SMART Domains

Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	438	4.7e-17	PFAM
Pfam:Sugar_tr	26	453	6e-140	PFAM
low complexity region	462	478	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148395

Predicted Effect

probably damaging
Transcript: ENSMUST00000149194
AA Change: Q136L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136684
Gene: ENSMUSG00000018554
AA Change: Q136L

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
low complexity region	25	47	N/A	INTRINSIC
low complexity region	79	99	N/A	INTRINSIC
low complexity region	122	144	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178809

Predicted Effect

probably benign
Transcript: ENSMUST00000179298

SMART Domains

Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	26	242	6.9e-65	PFAM
Pfam:MFS_1	27	239	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178363

SMART Domains

Protein: ENSMUSP00000136455
Gene: ENSMUSG00000018566

Domain	Start	End	E-Value	Type
PDB:4PYP\|A	14	50	3e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000152487

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous disruption of this gene leads to both male and female infertility. Spermatogenesis terminates in postmeiotic germ cells with no sperm seen in the epididymis and a marked increase of apoptosis during meiosis. Adult females exhibit a few growingfollicles and no corpora lutea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,965,031 (GRCm39)		probably benign	Het
Adam28	A	G	14: 68,874,778 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,367,411 (GRCm39)	I560M	probably benign	Het
Alpl	G	A	4: 137,470,624 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,598,265 (GRCm39)	G753D	probably damaging	Het
Arhgef28	A	T	13: 98,090,480 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,717,055 (GRCm39)	C329S	probably damaging	Het
Capn13	T	C	17: 73,658,504 (GRCm39)	D188G	probably damaging	Het
Car10	G	A	11: 93,469,516 (GRCm39)	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,475,497 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,905,690 (GRCm39)	R562*	probably null	Het
Colec12	C	T	18: 9,848,826 (GRCm39)	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,417,488 (GRCm39)		probably null	Het
Epb41l3	A	G	17: 69,517,188 (GRCm39)	D72G	possibly damaging	Het
Etl4	T	C	2: 20,811,922 (GRCm39)	L1335P	probably benign	Het
F5	T	G	1: 164,021,903 (GRCm39)	N1459K	probably damaging	Het
Fam161a	T	C	11: 22,965,894 (GRCm39)		probably benign	Het
Flnc	G	A	6: 29,433,617 (GRCm39)	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,517,966 (GRCm39)	I607V	probably benign	Het
Fscb	A	G	12: 64,518,875 (GRCm39)	S864P	unknown	Het
Glod4	T	A	11: 76,130,376 (GRCm39)	K36*	probably null	Het
Gm6619	G	A	6: 131,467,393 (GRCm39)	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,258,706 (GRCm39)		probably benign	Het
Gyg1	A	T	3: 20,205,211 (GRCm39)	M119K	probably benign	Het
Ifit2	A	T	19: 34,550,702 (GRCm39)	I81F	probably damaging	Het
Insr	T	C	8: 3,308,682 (GRCm39)	Y118C	probably damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Kcnh3	T	C	15: 99,137,617 (GRCm39)	S771P	probably benign	Het
Kndc1	C	A	7: 139,500,700 (GRCm39)	H688Q	probably damaging	Het
Mybpc2	A	G	7: 44,165,591 (GRCm39)	C330R	probably damaging	Het
Naa50	A	T	16: 43,976,832 (GRCm39)	N23I	probably damaging	Het
Nt5el	A	T	13: 105,245,868 (GRCm39)	H143L	probably benign	Het
Or55b4	T	A	7: 102,133,685 (GRCm39)	D214V	probably damaging	Het
Or5a1	A	G	19: 12,097,240 (GRCm39)	S279P	probably damaging	Het
Or8b48	T	C	9: 38,493,373 (GRCm39)	S267P	probably benign	Het
Or8c16	T	C	9: 38,131,039 (GRCm39)	S307P	probably benign	Het
Pfkp	A	T	13: 6,653,426 (GRCm39)		probably benign	Het
Phlda2	G	A	7: 143,055,876 (GRCm39)		probably null	Het
Plxnd1	C	A	6: 115,946,906 (GRCm39)	V823L	probably benign	Het
Prpf40a	T	A	2: 53,031,847 (GRCm39)	H794L	probably benign	Het
Ripor2	A	T	13: 24,885,190 (GRCm39)	H436L	probably benign	Het
Rnf138	T	A	18: 21,153,970 (GRCm39)	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,514,582 (GRCm39)	V1064D	probably damaging	Het
Slc12a2	T	A	18: 58,039,092 (GRCm39)	C557*	probably null	Het
Slc1a6	T	C	10: 78,624,831 (GRCm39)	S79P	possibly damaging	Het
Snapin	G	A	3: 90,397,909 (GRCm39)		probably benign	Het
Tdp1	A	T	12: 99,881,704 (GRCm39)		probably benign	Het
Tigar	G	T	6: 127,065,108 (GRCm39)	A180E	probably benign	Het
Trav6-2	A	T	14: 52,905,122 (GRCm39)	T48S	probably benign	Het
Ttn	A	G	2: 76,558,776 (GRCm39)	Y29702H	probably damaging	Het
Ush1c	A	G	7: 45,854,686 (GRCm39)	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,691,578 (GRCm39)	I132F	probably damaging	Het
Vmn1r85	T	A	7: 12,818,461 (GRCm39)	K228*	probably null	Het
Wdr33	C	A	18: 32,039,842 (GRCm39)		probably benign	Het
Ypel1	T	A	16: 16,909,076 (GRCm39)	M368L	probably damaging	Het

Other mutations in Ybx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02720:Ybx2	APN	11	69,831,158 (GRCm39)	missense	probably benign	0.09
IGL02720:Ybx2	APN	11	69,831,157 (GRCm39)	missense	probably benign
PIT4515001:Ybx2	UTSW	11	69,831,224 (GRCm39)	missense	probably benign	0.41
R0158:Ybx2	UTSW	11	69,831,145 (GRCm39)	unclassified	probably benign
R1697:Ybx2	UTSW	11	69,830,887 (GRCm39)	missense	probably benign	0.40
R1985:Ybx2	UTSW	11	69,827,294 (GRCm39)	splice site	probably null
R3969:Ybx2	UTSW	11	69,831,242 (GRCm39)	missense	probably damaging	0.99
R4209:Ybx2	UTSW	11	69,826,767 (GRCm39)	start gained	probably benign
R5963:Ybx2	UTSW	11	69,831,918 (GRCm39)	missense	probably damaging	1.00
R6378:Ybx2	UTSW	11	69,831,179 (GRCm39)	missense	possibly damaging	0.73
R7325:Ybx2	UTSW	11	69,831,181 (GRCm39)	missense	probably benign	0.22
R7982:Ybx2	UTSW	11	69,831,448 (GRCm39)	missense	possibly damaging	0.94
R8310:Ybx2	UTSW	11	69,831,194 (GRCm39)	missense	probably damaging	0.96
R8830:Ybx2	UTSW	11	69,827,063 (GRCm39)	missense	probably benign	0.03
R9443:Ybx2	UTSW	11	69,831,188 (GRCm39)	missense
X0062:Ybx2	UTSW	11	69,829,174 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21