Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02135:Ybx3'

281257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ybx3

Ensembl Gene

ENSMUSG00000030189

Gene Name

Y box protein 3

Synonyms

dbpA, MSY4, MSY3, Dpba, Yb2, oxyR, Csda

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02135

Quality Score

Status

Chromosome

Chromosomal Location

131341821-131365413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131357892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 125 (R125C)

Ref Sequence

ENSEMBL: ENSMUSP00000085172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032309] [ENSMUST00000087865]

AlphaFold

Q9JKB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000032309
AA Change: R125C

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

SMART Domains

Protein: ENSMUSP00000032309
Gene: ENSMUSG00000030189
AA Change: R125C

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	14	71	N/A	INTRINSIC
CSP	84	152	8.65e-24	SMART
low complexity region	166	182	N/A	INTRINSIC
low complexity region	186	198	N/A	INTRINSIC
low complexity region	212	232	N/A	INTRINSIC
low complexity region	278	293	N/A	INTRINSIC
low complexity region	315	329	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083102

Predicted Effect

probably damaging
Transcript: ENSMUST00000087865
AA Change: R125C

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

SMART Domains

Protein: ENSMUSP00000085172
Gene: ENSMUSG00000030189
AA Change: R125C

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
low complexity region	14	71	N/A	INTRINSIC
CSP	84	152	8.65e-24	SMART
low complexity region	166	182	N/A	INTRINSIC
low complexity region	209	224	N/A	INTRINSIC
low complexity region	246	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205035

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Half of mice homozygous for a knock-out allele exhibit male infertility associated with smaller testes and reduced sperm production, partly due to increased spermatocyte apoptosis during mid to late spermatogenesis and progressive seminiferous tubule degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,205 (GRCm39)	H1034R	possibly damaging	Het
Aoc1l1	G	A	6: 48,952,498 (GRCm39)	R141Q	probably benign	Het
App	A	G	16: 84,876,726 (GRCm39)		probably null	Het
Arhgap23	G	T	11: 97,342,528 (GRCm39)	R270L	probably damaging	Het
Arhgap36	T	C	X: 48,586,066 (GRCm39)	I342T	possibly damaging	Het
Arhgef12	A	T	9: 42,883,461 (GRCm39)	M1356K	possibly damaging	Het
Armh4	T	C	14: 50,011,386 (GRCm39)	K107R	probably damaging	Het
Asap3	A	C	4: 135,968,464 (GRCm39)		probably null	Het
Atl2	A	G	17: 80,167,214 (GRCm39)		probably null	Het
Cdh20	T	A	1: 110,066,004 (GRCm39)	Y759*	probably null	Het
Celsr3	A	G	9: 108,704,755 (GRCm39)	T413A	probably benign	Het
Cep97	A	T	16: 55,743,330 (GRCm39)	I102K	probably damaging	Het
Ces2a	T	C	8: 105,466,813 (GRCm39)	S441P	probably benign	Het
Cops2	T	C	2: 125,674,163 (GRCm39)	T435A	probably benign	Het
Ctc1	A	G	11: 68,911,989 (GRCm39)	N56S	probably benign	Het
Dennd2a	G	A	6: 39,457,205 (GRCm39)	R746*	probably null	Het
Dnah5	T	A	15: 28,248,031 (GRCm39)	C723S	possibly damaging	Het
Dnah7a	A	C	1: 53,662,632 (GRCm39)	V643G	probably benign	Het
Dnah9	A	T	11: 66,008,318 (GRCm39)	S836T	possibly damaging	Het
Edc4	T	A	8: 106,612,454 (GRCm39)	V164D	probably damaging	Het
Gcfc2	A	T	6: 81,918,381 (GRCm39)	D357V	probably damaging	Het
Grem1	T	C	2: 113,580,132 (GRCm39)	N123S	probably damaging	Het
Gria1	T	C	11: 57,076,679 (GRCm39)	V94A	probably damaging	Het
Hipk2	G	A	6: 38,795,934 (GRCm39)	H112Y	possibly damaging	Het
Il7r	T	C	15: 9,508,092 (GRCm39)	N410S	probably benign	Het
Insr	A	T	8: 3,308,741 (GRCm39)	S98R	probably damaging	Het
Klhl7	T	A	5: 24,346,279 (GRCm39)	Y308*	probably null	Het
Lcp1	T	C	14: 75,437,926 (GRCm39)	V112A	probably benign	Het
Map2	A	T	1: 66,419,920 (GRCm39)	R84*	probably null	Het
Mgst1	A	T	6: 138,124,766 (GRCm39)	M27L	probably damaging	Het
Mroh7	A	G	4: 106,559,707 (GRCm39)	L740P	probably damaging	Het
Mybpc3	T	C	2: 90,955,171 (GRCm39)	F507L	possibly damaging	Het
Nqo2	A	T	13: 34,169,326 (GRCm39)	K183*	probably null	Het
Nt5c1b	T	C	12: 10,427,194 (GRCm39)	Y315H	probably damaging	Het
Odc1	T	A	12: 17,597,674 (GRCm39)	I48N	probably damaging	Het
Or2a56	A	G	6: 42,932,585 (GRCm39)	D51G	probably damaging	Het
Or7a37	T	A	10: 78,805,940 (GRCm39)	S152R	probably damaging	Het
Osbpl5	T	A	7: 143,258,862 (GRCm39)	D236V	probably damaging	Het
Prkg1	A	G	19: 30,970,476 (GRCm39)	Y212H	probably benign	Het
Pttg1ip	T	C	10: 77,425,578 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,974 (GRCm39)	T103S	possibly damaging	Het
Skp2	T	C	15: 9,125,234 (GRCm39)	D115G	probably benign	Het
Slc25a30	C	T	14: 76,004,435 (GRCm39)	V221I	probably benign	Het
Slc7a3	A	C	X: 100,123,098 (GRCm39)	D609E	probably benign	Het
Strc	C	T	2: 121,195,315 (GRCm39)	G1656D	probably damaging	Het
Tbc1d8	A	G	1: 39,441,891 (GRCm39)	F234L	probably damaging	Het
Tgm7	T	G	2: 120,929,519 (GRCm39)	I252L	possibly damaging	Het
Tlr5	A	G	1: 182,800,819 (GRCm39)	D41G	possibly damaging	Het
Tns2	T	C	15: 102,021,461 (GRCm39)	L1034P	probably damaging	Het
Trim15	A	G	17: 37,177,956 (GRCm39)	V13A	probably benign	Het
Uros	C	T	7: 133,288,734 (GRCm39)	V258M	possibly damaging	Het
Wdr75	A	G	1: 45,853,723 (GRCm39)	Y378C	probably damaging	Het
Wdr75	G	A	1: 45,856,608 (GRCm39)		probably null	Het
Wdr82	G	T	9: 106,048,443 (GRCm39)	R9L	possibly damaging	Het
Zc3h12b	A	G	X: 94,942,870 (GRCm39)	T49A	probably benign	Het
Zfyve27	G	A	19: 42,172,575 (GRCm39)	V279M	probably damaging	Het

Other mutations in Ybx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02203:Ybx3	APN	6	131,345,371 (GRCm39)	missense	probably benign	0.01
PIT1430001:Ybx3	UTSW	6	131,356,422 (GRCm39)	missense	probably damaging	1.00
R2869:Ybx3	UTSW	6	131,347,376 (GRCm39)	missense	probably damaging	1.00
R2869:Ybx3	UTSW	6	131,347,376 (GRCm39)	missense	probably damaging	1.00
R2870:Ybx3	UTSW	6	131,347,376 (GRCm39)	missense	probably damaging	1.00
R2870:Ybx3	UTSW	6	131,347,376 (GRCm39)	missense	probably damaging	1.00
R2873:Ybx3	UTSW	6	131,347,376 (GRCm39)	missense	probably damaging	1.00
R4654:Ybx3	UTSW	6	131,347,290 (GRCm39)	missense	probably damaging	0.99
R5878:Ybx3	UTSW	6	131,344,726 (GRCm39)	critical splice donor site	probably null
R5881:Ybx3	UTSW	6	131,345,451 (GRCm39)	missense	possibly damaging	0.71
R7796:Ybx3	UTSW	6	131,345,479 (GRCm39)	missense	probably damaging	0.98
R7833:Ybx3	UTSW	6	131,344,826 (GRCm39)	missense	possibly damaging	0.83
R7986:Ybx3	UTSW	6	131,356,362 (GRCm39)	nonsense	probably null
R8003:Ybx3	UTSW	6	131,345,400 (GRCm39)	nonsense	probably null
R8043:Ybx3	UTSW	6	131,361,469 (GRCm39)	missense	probably benign	0.13
R9802:Ybx3	UTSW	6	131,345,426 (GRCm39)	missense	probably benign	0.01
X0024:Ybx3	UTSW	6	131,357,867 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16