Mutagenetix > Incidental Mutation

Incidental Mutation 'R8154:Yes1'

633190

Institutional Source

Beutler Lab

Gene Symbol

Yes1

Ensembl Gene

ENSMUSG00000014932

Gene Name

YES proto-oncogene 1, Src family tyrosine kinase

Synonyms

Yes

MMRRC Submission

067580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R8154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32768515-32844401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32802366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 94 (F94L)

Ref Sequence

ENSEMBL: ENSMUSP00000072154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072311] [ENSMUST00000168707] [ENSMUST00000200999] [ENSMUST00000202543]

AlphaFold

Q04736

PDB Structure

Solution structure of the SH3_1 domain of Yamaguchi sarcoma viral (v-yes) oncogene homolog 1 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072311
AA Change: F94L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072154
Gene: ENSMUSG00000014932
AA Change: F94L

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
SH3	92	149	5.03e-22	SMART
SH2	154	244	8.4e-35	SMART
TyrKc	275	524	8.39e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168707
AA Change: F94L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132161
Gene: ENSMUSG00000014932
AA Change: F94L

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
SH3	92	149	5.03e-22	SMART
SH2	154	244	8.4e-35	SMART
TyrKc	275	524	8.39e-131	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200999
AA Change: F94L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144355
Gene: ENSMUSG00000014932
AA Change: F94L

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
SH3	92	149	3.1e-24	SMART
SH2	154	198	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202543
AA Change: F94L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144001
Gene: ENSMUSG00000014932
AA Change: F94L

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
SH3	92	149	5.03e-22	SMART
SH2	154	244	8.4e-35	SMART
TyrKc	275	524	8.39e-131	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null alleles have no overt phenotype, but mice homozygous for both Yes and Src null mutations exhibit impaired movement and breathing, resulting in perinatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	T	3: 122,718,142 (GRCm39)	G12C	probably damaging	Het
Adam34l	A	T	8: 44,078,424 (GRCm39)	I600N	probably damaging	Het
Adamts10	C	A	17: 33,756,902 (GRCm39)	P357T	probably damaging	Het
Bmyc	T	A	2: 25,597,346 (GRCm39)	S137T	probably damaging	Het
Bpifa1	T	A	2: 153,987,654 (GRCm39)	M168K	possibly damaging	Het
Card11	T	G	5: 140,886,732 (GRCm39)	K339T	probably damaging	Het
Ccdc149	C	T	5: 52,542,446 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,896 (GRCm39)	S193P	probably benign	Het
Cracd	A	T	5: 76,989,644 (GRCm39)	E62D	unknown	Het
Csf2rb	A	G	15: 78,224,642 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,434 (GRCm39)	E576G	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,493 (GRCm39)	N238S	probably benign	Het
Dnaja3	C	A	16: 4,517,740 (GRCm39)	T375K	possibly damaging	Het
Espnl	C	T	1: 91,252,921 (GRCm39)	H217Y	possibly damaging	Het
Exoc4	T	C	6: 33,887,473 (GRCm39)	S754P	probably benign	Het
Fcgbp	A	G	7: 27,784,507 (GRCm39)	D189G	probably benign	Het
Gle1	T	A	2: 29,828,619 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gtf2i	A	T	5: 134,280,721 (GRCm39)	F583L	probably benign	Het
Heatr9	T	A	11: 83,402,703 (GRCm39)	Y532F	possibly damaging	Het
Hic2	C	T	16: 17,076,344 (GRCm39)	S391L	probably benign	Het
Hipk1	A	G	3: 103,656,652 (GRCm39)	V905A	probably damaging	Het
Inpp5f	T	G	7: 128,265,991 (GRCm39)	W211G	possibly damaging	Het
Katnip	T	C	7: 125,412,802 (GRCm39)	L382P	probably damaging	Het
Kcnma1	T	A	14: 23,361,822 (GRCm39)	Y1123F	possibly damaging	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lmod3	T	A	6: 97,224,941 (GRCm39)	K293N	probably damaging	Het
Luzp1	T	C	4: 136,269,195 (GRCm39)	S473P	possibly damaging	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map4k4	T	G	1: 40,060,302 (GRCm39)	Y1030*	probably null	Het
Miga1	A	G	3: 152,026,337 (GRCm39)		probably benign	Het
Mrpl18	T	C	17: 13,130,608 (GRCm39)	E167G	probably damaging	Het
Myh4	A	G	11: 67,144,200 (GRCm39)	E1190G	probably damaging	Het
Ngef	C	T	1: 87,468,482 (GRCm39)	M92I	probably benign	Het
Nlrc4	T	A	17: 74,752,904 (GRCm39)	Y493F	probably damaging	Het
Or52s19	A	C	7: 103,007,763 (GRCm39)	C213G	probably benign	Het
Otud7a	C	A	7: 63,407,612 (GRCm39)	F638L	probably benign	Het
Padi2	T	A	4: 140,651,620 (GRCm39)		probably null	Het
Pcdhgb1	A	G	18: 37,815,596 (GRCm39)	I696V	probably damaging	Het
Pikfyve	T	C	1: 65,304,948 (GRCm39)	F1745S	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prrc2b	C	T	2: 32,108,689 (GRCm39)	A1637V	probably benign	Het
Rab3il1	A	T	19: 10,004,936 (GRCm39)	M57L	possibly damaging	Het
Rbl2	A	G	8: 91,833,825 (GRCm39)	D885G	probably damaging	Het
Rbm25	A	G	12: 83,691,205 (GRCm39)	M47V	unknown	Het
Rd3l	T	A	12: 111,946,638 (GRCm39)	H46L	probably benign	Het
Scn5a	C	G	9: 119,391,611 (GRCm39)	R27P	possibly damaging	Het
Set	T	A	2: 29,959,100 (GRCm39)	V99D	probably benign	Het
Sh3tc1	T	A	5: 35,875,696 (GRCm39)	I138F	probably damaging	Het
Slf2	T	A	19: 44,923,596 (GRCm39)	S137T	possibly damaging	Het
Smg8	A	T	11: 86,976,063 (GRCm39)	M506K	possibly damaging	Het
Stpg2	G	A	3: 139,014,938 (GRCm39)	V368M	probably damaging	Het
Trav16d-dv11	T	C	14: 53,284,999 (GRCm39)	V25A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Vrk1	A	G	12: 106,036,793 (GRCm39)	K360E	probably benign	Het
Xirp2	T	A	2: 67,342,017 (GRCm39)	H1419Q	possibly damaging	Het
Zc2hc1c	T	C	12: 85,336,946 (GRCm39)	L201P	probably benign	Het
Zfp638	C	T	6: 83,954,391 (GRCm39)	R1499W	probably damaging	Het
Znfx1	A	T	2: 166,897,157 (GRCm39)	L589Q	probably damaging	Het

Other mutations in Yes1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Yes1	APN	5	32,812,473 (GRCm39)	missense	probably benign	0.00
IGL02816:Yes1	APN	5	32,802,451 (GRCm39)	missense	probably damaging	1.00
IGL02974:Yes1	APN	5	32,818,112 (GRCm39)	missense	probably damaging	0.97
PIT4696001:Yes1	UTSW	5	32,841,969 (GRCm39)	missense	possibly damaging	0.70
R0139:Yes1	UTSW	5	32,842,039 (GRCm39)	missense	possibly damaging	0.87
R0481:Yes1	UTSW	5	32,797,749 (GRCm39)	nonsense	probably null
R0486:Yes1	UTSW	5	32,812,926 (GRCm39)	nonsense	probably null
R0526:Yes1	UTSW	5	32,812,584 (GRCm39)	missense	probably benign	0.15
R0648:Yes1	UTSW	5	32,812,862 (GRCm39)	missense	possibly damaging	0.90
R1083:Yes1	UTSW	5	32,809,101 (GRCm39)	critical splice donor site	probably null
R1463:Yes1	UTSW	5	32,809,046 (GRCm39)	missense	probably benign	0.04
R1569:Yes1	UTSW	5	32,810,507 (GRCm39)	missense	probably damaging	1.00
R1899:Yes1	UTSW	5	32,802,395 (GRCm39)	missense	probably damaging	1.00
R1918:Yes1	UTSW	5	32,842,079 (GRCm39)	missense	probably benign	0.00
R2183:Yes1	UTSW	5	32,802,370 (GRCm39)	missense	probably damaging	1.00
R2913:Yes1	UTSW	5	32,797,926 (GRCm39)	missense	probably benign
R2914:Yes1	UTSW	5	32,797,926 (GRCm39)	missense	probably benign
R3104:Yes1	UTSW	5	32,810,515 (GRCm39)	missense	probably damaging	1.00
R4407:Yes1	UTSW	5	32,797,929 (GRCm39)	missense	possibly damaging	0.51
R4736:Yes1	UTSW	5	32,818,121 (GRCm39)	missense	probably damaging	0.98
R4939:Yes1	UTSW	5	32,802,457 (GRCm39)	splice site	probably null
R6187:Yes1	UTSW	5	32,802,385 (GRCm39)	missense	probably damaging	1.00
R6318:Yes1	UTSW	5	32,809,030 (GRCm39)	missense	possibly damaging	0.92
R6467:Yes1	UTSW	5	32,810,381 (GRCm39)	missense	probably damaging	0.98
R7578:Yes1	UTSW	5	32,802,430 (GRCm39)	missense	probably benign	0.27
R7756:Yes1	UTSW	5	32,842,024 (GRCm39)	missense	probably damaging	1.00
R8224:Yes1	UTSW	5	32,816,417 (GRCm39)	missense	probably benign
R9043:Yes1	UTSW	5	32,810,312 (GRCm39)	missense	probably damaging	1.00
X0062:Yes1	UTSW	5	32,810,387 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTTCACTGGAAGCCTTAAGAAAAC -3'
(R):5'- GTGGTCCAATGTAGAGACCAGG -3'

Sequencing Primer
(F):5'- TGGAAGCCTTAAGAAAACATCTACTC -3'
(R):5'- GTCCAATGTAGAGACCAGGTTTCTC -3'

Posted On

2020-06-30