Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Yes1'

48909

Institutional Source

Beutler Lab

Gene Symbol

Yes1

Ensembl Gene

ENSMUSG00000014932

Gene Name

YES proto-oncogene 1, Src family tyrosine kinase

Synonyms

Yes

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R0526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32768515-32844401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32812584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 285 (C285S)

Ref Sequence

ENSEMBL: ENSMUSP00000144001 (fasta)

Gene Model

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

AlphaFold

Q04736

Predicted Effect

probably benign
Transcript: ENSMUST00000072311
AA Change: C285S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072154
Gene: ENSMUSG00000014932
AA Change: C285S

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

noncoding transcript
Transcript: ENSMUST00000155976

Predicted Effect

probably benign
Transcript: ENSMUST00000168707
AA Change: C285S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000132161
Gene: ENSMUSG00000014932
AA Change: C285S

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 benign
Transcript: ENSMUST00000200999

SMART Domains

Protein: ENSMUSP00000144355
Gene: ENSMUSG00000014932

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 benign
Transcript: ENSMUST00000202543
AA Change: C285S

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144001
Gene: ENSMUSG00000014932
AA Change: C285S

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Akap8	G	A	17: 32,536,266 (GRCm39)	T49I	probably benign	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Ccnt2	T	G	1: 127,727,182 (GRCm39)	C199G	probably damaging	Het
Cd151	A	T	7: 141,050,504 (GRCm39)	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Prf1	G	A	10: 61,136,033 (GRCm39)	R103H	probably benign	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	probably benign	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
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
R8154:Yes1	UTSW	5	32,802,366 (GRCm39)	missense	probably damaging	0.99
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'- TCTCAGATACCCTATGTACCTGCCAAAA -3'
(R):5'- CTTCTGGCATCATTGTACCTGGCTT -3'

Sequencing Primer
(F):5'- gaatctctctctgagtgtagtcc -3'
(R):5'- GATTGCTACTTTTGTAGTTCCATTCC -3'

Posted On

2013-06-12