Mutagenetix > Incidental Mutation

Incidental Mutation 'R6642:Ywhaz'

525877

Institutional Source

Beutler Lab

Gene Symbol

Ywhaz

Ensembl Gene

ENSMUSG00000022285

Gene Name

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide

Synonyms

1110013I11Rik, 14-3-3 zeta

MMRRC Submission

044763-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.750) question?

Stock #

R6642 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36771014-36797173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36791166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 19 (Y19C)

Ref Sequence

ENSEMBL: ENSMUSP00000120610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022894] [ENSMUST00000110359] [ENSMUST00000110361] [ENSMUST00000110362] [ENSMUST00000126184] [ENSMUST00000151635] [ENSMUST00000226851]

AlphaFold

P63101

Predicted Effect

probably damaging
Transcript: ENSMUST00000022894
AA Change: Y19C

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

SMART Domains

Protein: ENSMUSP00000022894
Gene: ENSMUSG00000022285
AA Change: Y19C

Domain	Start	End	E-Value	Type
14_3_3	3	242	1.25e-148	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110359
AA Change: Y19C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000110361
AA Change: Y19C

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

SMART Domains

Protein: ENSMUSP00000105990
Gene: ENSMUSG00000022285
AA Change: Y19C

Domain	Start	End	E-Value	Type
14_3_3	3	242	1.25e-148	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110362
AA Change: Y19C

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

SMART Domains

Protein: ENSMUSP00000105991
Gene: ENSMUSG00000022285
AA Change: Y19C

Domain	Start	End	E-Value	Type
14_3_3	3	242	1.25e-148	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126184
AA Change: Y19C

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115928
Gene: ENSMUSG00000022285
AA Change: Y19C

Domain	Start	End	E-Value	Type
14_3_3	3	88	2.26e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000151635
AA Change: Y19C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154879

Predicted Effect

probably damaging
Transcript: ENSMUST00000226851
AA Change: Y19C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227067

Meta Mutation Damage Score

0.9353

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (35/35)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation after P14, some postnatal lethality by P21. Mice homozygous for one gene trap allele also exhibit neurodevelopmental and neuropsychiatric behaviour defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	A	2: 152,282,790 (GRCm39)	V215D	probably damaging	Het
Ablim1	A	G	19: 57,119,284 (GRCm39)	S267P	probably benign	Het
Adcy2	C	T	13: 68,768,945 (GRCm39)	C1061Y	probably damaging	Het
Aip	C	A	19: 4,165,149 (GRCm39)	C240F	probably damaging	Het
Aldh1a2	A	T	9: 71,160,268 (GRCm39)	D98V	probably damaging	Het
Arhgef40	T	C	14: 52,228,419 (GRCm39)		probably benign	Het
Cplx2	G	T	13: 54,526,736 (GRCm39)	R48L	probably damaging	Het
Ctrl	C	T	8: 106,659,451 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,353,006 (GRCm39)	T2720A	probably benign	Het
Fzd1	A	G	5: 4,805,696 (GRCm39)	Y629H	probably damaging	Het
Gins1	T	C	2: 150,770,038 (GRCm39)		probably null	Het
Gpr149	C	T	3: 62,437,995 (GRCm39)	A721T	probably damaging	Het
Helb	A	T	10: 119,920,835 (GRCm39)	M1036K	probably benign	Het
Il16	A	G	7: 83,337,335 (GRCm39)	F127L	probably benign	Het
Kctd20	A	T	17: 29,180,640 (GRCm39)	H138L	probably damaging	Het
Kctd9	T	A	14: 67,962,122 (GRCm39)	L55*	probably null	Het
Marf1	C	T	16: 13,950,611 (GRCm39)	R925H	probably benign	Het
Mbip	A	T	12: 56,389,191 (GRCm39)		probably benign	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nod1	T	G	6: 54,925,014 (GRCm39)	D99A	probably damaging	Het
Olfm4	A	G	14: 80,259,107 (GRCm39)	K419E	probably damaging	Het
Or6c214	A	T	10: 129,591,232 (GRCm39)	L29Q	probably damaging	Het
Pik3r4	A	G	9: 105,521,845 (GRCm39)	D137G	probably benign	Het
Prdm4	T	C	10: 85,743,682 (GRCm39)	E191G	probably benign	Het
Rassf10	A	T	7: 112,554,784 (GRCm39)	T462S	probably benign	Het
Rundc3b	A	T	5: 8,629,071 (GRCm39)	I110N	probably damaging	Het
Sgsm3	C	T	15: 80,893,901 (GRCm39)	R479C	probably damaging	Het
Tmc7	A	T	7: 118,144,834 (GRCm39)	Y575*	probably null	Het
Trim33	T	C	3: 103,244,830 (GRCm39)	L310S	probably damaging	Het
Trpm2	C	T	10: 77,773,660 (GRCm39)	R585Q	probably benign	Het
Ttn	T	C	2: 76,565,740 (GRCm39)	E28204G	probably damaging	Het
Vmn1r233	A	T	17: 21,214,002 (GRCm39)	L316Q	probably damaging	Het
Vmn2r110	A	T	17: 20,803,779 (GRCm39)	N265K	possibly damaging	Het
Xylb	A	G	9: 119,196,559 (GRCm39)	H114R	probably damaging	Het

Other mutations in Ywhaz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Impecunious	UTSW	15	36,791,166 (GRCm39)	missense	probably damaging	1.00
R0559:Ywhaz	UTSW	15	36,791,208 (GRCm39)	missense	possibly damaging	0.80
R1291:Ywhaz	UTSW	15	36,772,978 (GRCm39)	unclassified	probably benign
R1705:Ywhaz	UTSW	15	36,790,959 (GRCm39)	missense	possibly damaging	0.55
R5810:Ywhaz	UTSW	15	36,775,510 (GRCm39)	missense	probably damaging	1.00
R6579:Ywhaz	UTSW	15	36,791,166 (GRCm39)	missense	probably damaging	1.00
R6582:Ywhaz	UTSW	15	36,791,166 (GRCm39)	missense	probably damaging	1.00
R6583:Ywhaz	UTSW	15	36,791,166 (GRCm39)	missense	probably damaging	1.00
R6643:Ywhaz	UTSW	15	36,791,166 (GRCm39)	missense	probably damaging	1.00
X0027:Ywhaz	UTSW	15	36,775,800 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTGCAGATGTCACGCAGCTC -3'
(R):5'- GCCTTTTAATTGCTCAAGCTGG -3'

Sequencing Primer
(F):5'- ACGCAGCTCCGTCTCGATC -3'
(R):5'- CTCAAGCTGGTTTGAGGTACTG -3'

Posted On

2018-06-22