Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Yes1'

177108

Institutional Source

Beutler Lab

Gene Symbol

Yes1

Ensembl Gene

ENSMUSG00000014932

Gene Name

YES proto-oncogene 1, Src family tyrosine kinase

Synonyms

Yes

MMRRC Submission

039608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32768515-32844401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32810507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 192 (Y192C)

Ref Sequence

ENSEMBL: ENSMUSP00000144355 (fasta)

Gene Model

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

AlphaFold

Q04736

Predicted Effect

probably damaging
Transcript: ENSMUST00000072311
AA Change: Y192C

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

SMART Domains

Protein: ENSMUSP00000072154
Gene: ENSMUSG00000014932
AA Change: Y192C

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 damaging
Transcript: ENSMUST00000168707
AA Change: Y192C

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

SMART Domains

Protein: ENSMUSP00000132161
Gene: ENSMUSG00000014932
AA Change: Y192C

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: Y192C

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

SMART Domains

Protein: ENSMUSP00000144355
Gene: ENSMUSG00000014932
AA Change: Y192C

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: Y192C

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

SMART Domains

Protein: ENSMUSP00000144001
Gene: ENSMUSG00000014932
AA Change: Y192C

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

Meta Mutation Damage Score

0.8867

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,427 (GRCm39)	K166*	probably null	Het
Abca2	T	A	2: 25,329,197 (GRCm39)	N1012K	probably benign	Het
Ahnak	T	C	19: 8,981,458 (GRCm39)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,724,006 (GRCm39)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,823,188 (GRCm39)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,027,560 (GRCm39)	V750A	probably damaging	Het
Car6	T	C	4: 150,285,499 (GRCm39)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,706,267 (GRCm39)	T917A	probably damaging	Het
Clmn	C	A	12: 104,747,340 (GRCm39)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,704,331 (GRCm39)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,529,537 (GRCm39)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,745,597 (GRCm39)		probably benign	Het
Esyt1	G	T	10: 128,354,863 (GRCm39)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,922,803 (GRCm39)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,494,171 (GRCm39)	D151E	probably benign	Het
Gcc2	C	T	10: 58,105,993 (GRCm39)	L310F	probably benign	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,514,340 (GRCm39)	V89A	probably benign	Het
Ibsp	A	T	5: 104,458,017 (GRCm39)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,896,771 (GRCm39)	D1265G	probably benign	Het
Ints9	T	C	14: 65,217,571 (GRCm39)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 92,986,532 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,087,613 (GRCm39)		probably null	Het
Lbp	A	T	2: 158,161,607 (GRCm39)	D223V	probably damaging	Het
Lck	C	A	4: 129,449,449 (GRCm39)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 120,970,309 (GRCm39)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,399,823 (GRCm39)		probably null	Het
Maip1	T	C	1: 57,452,554 (GRCm39)		probably benign	Het
Mark3	T	G	12: 111,600,180 (GRCm39)	I465S	probably benign	Het
Marveld2	C	T	13: 100,737,506 (GRCm39)	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,319,022 (GRCm39)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm39)	Q2479L	probably null	Het
Met	A	T	6: 17,531,503 (GRCm39)	K594*	probably null	Het
Pak2	G	T	16: 31,856,113 (GRCm39)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,162,410 (GRCm39)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,416,960 (GRCm39)	I51T	probably benign	Het
Ppp1r18	A	G	17: 36,179,595 (GRCm39)	E62G	probably damaging	Het
Prkag2	T	C	5: 25,152,475 (GRCm39)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,529,960 (GRCm39)	I347K	probably benign	Het
Rdh1	A	T	10: 127,598,941 (GRCm39)	M141L	probably benign	Het
Rfx2	A	T	17: 57,111,326 (GRCm39)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,260,589 (GRCm39)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,033,951 (GRCm39)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,837,896 (GRCm39)	P814S	probably damaging	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Slc15a2	T	C	16: 36,576,745 (GRCm39)	T430A	probably benign	Het
Slc17a3	A	T	13: 24,039,591 (GRCm39)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,932,187 (GRCm39)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,719,024 (GRCm39)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,660,097 (GRCm39)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,911,321 (GRCm39)		probably null	Het
Tmem208	T	A	8: 106,061,462 (GRCm39)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,835,047 (GRCm39)	V401A	probably damaging	Het
Trhde	A	G	10: 114,282,093 (GRCm39)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,866,809 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,626,063 (GRCm39)	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,945,921 (GRCm39)	N85K	probably benign	Het
Zan	A	G	5: 137,427,392 (GRCm39)	V2415A	unknown	Het
Zfp410	T	A	12: 84,379,726 (GRCm39)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,676,642 (GRCm39)	M38L	probably benign	Het
Zfp560	A	T	9: 20,260,011 (GRCm39)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,320,714 (GRCm39)	R648*	probably null	Het
Zfp976	G	T	7: 42,262,806 (GRCm39)	H344N	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
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'- TGCGGAAAGATTACTTCTGAATCCTGG -3'
(R):5'- GGGCAACATGCAAGTCTTGTTCCTC -3'

Sequencing Primer
(F):5'- GGAATCAGCGAGGTATTTTCTTAG -3'
(R):5'- ttcatccataggagccacatag -3'

Posted On

2014-04-24