Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Ywhae'

662821

Institutional Source

Beutler Lab

Gene Symbol

Ywhae

Ensembl Gene

ENSMUSG00000020849

Gene Name

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

Synonyms

14-3-3 epsilon

MMRRC Submission

068580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75623695-75656671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75642769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 43 (N43D)

Ref Sequence

ENSEMBL: ENSMUSP00000070993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067664] [ENSMUST00000134745]

AlphaFold

P62259

Predicted Effect

probably damaging
Transcript: ENSMUST00000067664
AA Change: N43D

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

SMART Domains

Protein: ENSMUSP00000070993
Gene: ENSMUSG00000020849
AA Change: N43D

Domain	Start	End	E-Value	Type
14_3_3	4	245	2.51e-180	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123504
Gene: ENSMUSG00000020849
AA Change: N54D

Domain	Start	End	E-Value	Type
14_3_3	29	154	2.77e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134745
AA Change: N43D

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

SMART Domains

Protein: ENSMUSP00000117877
Gene: ENSMUSG00000020849
AA Change: N43D

Domain	Start	End	E-Value	Type
14_3_3	4	129	1.32e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene usually die around birth. The small percentage of survivors are small in size and display central nervous system abnormalities including a thinner cortex and a disorganized pyramidal cell layer in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,981,622 (GRCm39)	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,578,906 (GRCm39)	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,222,643 (GRCm39)	N293S	probably benign	Het
Aup1	A	T	6: 83,033,602 (GRCm39)	H302L	probably damaging	Het
Bptf	G	A	11: 106,931,206 (GRCm39)	R277W	probably damaging	Het
Cald1	A	G	6: 34,734,946 (GRCm39)	I346V	unknown	Het
Cd44	T	C	2: 102,664,645 (GRCm39)	T519A	possibly damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,689,195 (GRCm39)	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,308,628 (GRCm39)	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,932,859 (GRCm39)	I361F	possibly damaging	Het
Dock5	A	T	14: 68,083,449 (GRCm39)	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326 (GRCm39)	R430S	probably damaging	Het
Dync2i2	T	A	2: 29,922,220 (GRCm39)	T414S	possibly damaging	Het
Efcab3	T	A	11: 104,695,100 (GRCm39)	F1730L	probably benign	Het
Eml5	C	T	12: 98,782,218 (GRCm39)	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,102,975 (GRCm39)	A91V	probably damaging	Het
Fancl	A	T	11: 26,419,754 (GRCm39)	I336L	probably benign	Het
Fpr3	A	G	17: 18,191,223 (GRCm39)	T165A	possibly damaging	Het
Gon4l	A	G	3: 88,807,291 (GRCm39)	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Hdac4	C	A	1: 91,875,239 (GRCm39)	A911S	probably damaging	Het
Ighd	T	C	12: 113,378,183 (GRCm39)	N139D		Het
Klhl22	T	A	16: 17,589,690 (GRCm39)	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,928,180 (GRCm39)	S1226G	probably benign	Het
Lama5	A	T	2: 179,828,481 (GRCm39)	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,650,985 (GRCm39)	I468V	probably benign	Het
Lmtk3	G	A	7: 45,447,712 (GRCm39)	A1253T	unknown	Het
Lta	T	A	17: 35,423,045 (GRCm39)	N93Y	probably damaging	Het
Macf1	A	T	4: 123,403,563 (GRCm39)		probably null	Het
Mink1	A	G	11: 70,500,902 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ntpcr	A	G	8: 126,472,074 (GRCm39)	M132V	probably benign	Het
Or14a257	A	G	7: 86,138,061 (GRCm39)	S233P	probably damaging	Het
Or52n1	A	G	7: 104,383,115 (GRCm39)	M152T	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Padi2	A	G	4: 140,660,590 (GRCm39)	I357V	probably benign	Het
Pax7	G	T	4: 139,506,920 (GRCm39)	H372Q	probably benign	Het
Paxip1	A	G	5: 27,949,541 (GRCm39)	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,412,822 (GRCm39)	D199A	probably null	Het
Pkd1l2	T	C	8: 117,792,311 (GRCm39)	N494D	probably benign	Het
Prdm2	G	T	4: 142,862,580 (GRCm39)	Q237K	probably benign	Het
Prune2	T	C	19: 17,097,769 (GRCm39)	L1091P	probably damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rassf5	A	G	1: 131,106,264 (GRCm39)	*414Q	probably null	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rrp9	C	A	9: 106,360,388 (GRCm39)	T238K	probably benign	Het
Slc44a2	A	G	9: 21,259,882 (GRCm39)	D630G	probably benign	Het
Slc7a9	A	G	7: 35,156,443 (GRCm39)	D295G	probably benign	Het
Slco3a1	A	T	7: 73,934,054 (GRCm39)	M706K	possibly damaging	Het
Spag9	T	C	11: 93,962,514 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,590,180 (GRCm39)	Y394N	probably damaging	Het
Stard9	T	C	2: 120,510,442 (GRCm39)	L341P	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,061,809 (GRCm39)	C334S	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,731,456 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,537,480 (GRCm39)	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,627,735 (GRCm39)	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 23,754,890 (GRCm39)	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,439 (GRCm39)	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,209 (GRCm39)	I437K	unknown	Het
Zfp583	A	T	7: 6,320,210 (GRCm39)	Y267*	probably null	Het
Zfp608	C	T	18: 55,121,072 (GRCm39)	G172R	probably benign	Het

Other mutations in Ywhae

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0864:Ywhae	UTSW	11	75,650,256 (GRCm39)	critical splice donor site	probably null
R1766:Ywhae	UTSW	11	75,646,491 (GRCm39)	missense	probably damaging	1.00
R2075:Ywhae	UTSW	11	75,655,486 (GRCm39)	missense	probably benign	0.00
R5645:Ywhae	UTSW	11	75,647,750 (GRCm39)	missense	probably benign
R7390:Ywhae	UTSW	11	75,655,487 (GRCm39)	nonsense	probably null
R7422:Ywhae	UTSW	11	75,650,169 (GRCm39)	missense	probably damaging	0.96
R8816:Ywhae	UTSW	11	75,623,878 (GRCm39)	missense	probably damaging	0.99
R9639:Ywhae	UTSW	11	75,650,248 (GRCm39)	missense	probably benign	0.06
X0025:Ywhae	UTSW	11	75,646,431 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAACCCAGGGCTTTTGTGTTC -3'
(R):5'- CTCAATGCCACCTATATTTGAGAAG -3'

Sequencing Primer
(F):5'- TAAGGCAATCTTCCTGCATCAG -3'
(R):5'- TTTCCAGTACTAGAGATCTGACACC -3'

Posted On

2021-03-08