Incidental Mutation 'IGL02974:Yes1'
ID406297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yes1
Ensembl Gene ENSMUSG00000014932
Gene NameYES proto-oncogene 1, Src family tyrosine kinase
SynonymsYes
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.855) question?
Stock #IGL02974
Quality Score
Status
Chromosome5
Chromosomal Location32611171-32687057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32660768 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 383 (A383V)
Ref Sequence ENSEMBL: ENSMUSP00000144001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072311] [ENSMUST00000168707] [ENSMUST00000202543]
Predicted Effect probably damaging
Transcript: ENSMUST00000072311
AA Change: A383V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072154
Gene: ENSMUSG00000014932
AA Change: A383V

DomainStartEndE-ValueType
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: A383V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132161
Gene: ENSMUSG00000014932
AA Change: A383V

DomainStartEndE-ValueType
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: ENSMUST00000202543
AA Change: A383V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144001
Gene: ENSMUSG00000014932
AA Change: A383V

DomainStartEndE-ValueType
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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,388,137 T242M probably damaging Het
Abcg3 A T 5: 104,968,263 I235N probably damaging Het
Agbl3 T C 6: 34,799,822 L416S probably damaging Het
Alcam T C 16: 52,295,716 D165G probably benign Het
Aldh18a1 T A 19: 40,569,084 I341F probably damaging Het
Amn T C 12: 111,271,141 V7A probably benign Het
Apc C T 18: 34,268,383 probably benign Het
Arg2 T C 12: 79,150,792 Y195H probably damaging Het
Bdp1 A T 13: 100,055,292 M22K probably benign Het
Cacna1s T G 1: 136,092,617 N797K possibly damaging Het
Chd8 T A 14: 52,201,701 probably null Het
Clstn2 G A 9: 97,532,707 T378M probably damaging Het
Elf2 A G 3: 51,257,689 V298A probably damaging Het
Fbn1 C T 2: 125,346,330 D1530N probably null Het
Fcrls A T 3: 87,257,397 I274N possibly damaging Het
Fmo3 C T 1: 162,983,050 E24K probably damaging Het
Fndc3b A T 3: 27,488,276 N408K probably damaging Het
Foxn2 A T 17: 88,463,115 N130I probably damaging Het
Fscb T A 12: 64,471,525 I1056F unknown Het
Gimap5 A C 6: 48,753,377 T294P possibly damaging Het
Gm20489 T C X: 101,263,714 Q11R probably damaging Het
Gpr3 T C 4: 133,210,909 T151A possibly damaging Het
Gzmc T A 14: 56,233,994 H30L probably damaging Het
Ints6l C A X: 56,506,936 S845Y probably benign Het
Iqcf3 A T 9: 106,553,645 C101* probably null Het
Krt82 G A 15: 101,550,585 Q7* probably null Het
L3mbtl1 A T 2: 162,970,183 H716L possibly damaging Het
Lefty1 C A 1: 180,935,277 H56Q probably benign Het
Lrp1 T C 10: 127,555,016 Y3004C probably damaging Het
Lrp10 C A 14: 54,467,884 S177* probably null Het
Naa15 A G 3: 51,461,207 K576R possibly damaging Het
Naip2 A G 13: 100,161,678 S617P probably damaging Het
Olfm1 T G 2: 28,229,689 N445K probably damaging Het
Olfr1187-ps1 C T 2: 88,540,235 silent Het
Olfr1449 T G 19: 12,935,035 V99G probably benign Het
Ostm1 T A 10: 42,683,162 N139K probably damaging Het
Ovol1 A G 19: 5,551,149 Y205H probably damaging Het
Pappa C T 4: 65,204,935 L836F probably damaging Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ppfia2 A G 10: 106,800,776 K229E probably benign Het
Ppm1b T A 17: 84,993,824 V44E possibly damaging Het
Rapgef1 T C 2: 29,710,216 F611L possibly damaging Het
Rev3l T A 10: 39,862,747 Y2832* probably null Het
Robo1 T A 16: 73,006,862 Y1099N probably benign Het
Sf3b1 T C 1: 55,007,707 H226R probably benign Het
Slc26a4 C T 12: 31,529,554 V570I probably damaging Het
Slc27a1 C A 8: 71,584,203 A361D probably damaging Het
Srp68 T C 11: 116,246,225 N549D probably benign Het
Terb1 G T 8: 104,494,968 S202* probably null Het
Tmc1 T A 19: 20,900,844 M96L probably benign Het
Tmprss11d A G 5: 86,306,376 V190A probably damaging Het
Ttll6 G A 11: 96,156,702 C709Y probably benign Het
Uba1 A G X: 20,678,720 H712R probably benign Het
Unc80 A C 1: 66,525,658 T835P possibly damaging Het
Vmn2r14 G A 5: 109,221,426 P94S possibly damaging Het
Other mutations in Yes1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Yes1 APN 5 32655129 missense probably benign 0.00
IGL02816:Yes1 APN 5 32645107 missense probably damaging 1.00
PIT4696001:Yes1 UTSW 5 32684625 missense possibly damaging 0.70
R0139:Yes1 UTSW 5 32684695 missense possibly damaging 0.87
R0481:Yes1 UTSW 5 32640405 nonsense probably null
R0486:Yes1 UTSW 5 32655582 nonsense probably null
R0526:Yes1 UTSW 5 32655240 missense probably benign 0.15
R0648:Yes1 UTSW 5 32655518 missense possibly damaging 0.90
R1083:Yes1 UTSW 5 32651757 critical splice donor site probably null
R1463:Yes1 UTSW 5 32651702 missense probably benign 0.04
R1569:Yes1 UTSW 5 32653163 missense probably damaging 1.00
R1899:Yes1 UTSW 5 32645051 missense probably damaging 1.00
R1918:Yes1 UTSW 5 32684735 missense probably benign 0.00
R2183:Yes1 UTSW 5 32645026 missense probably damaging 1.00
R2913:Yes1 UTSW 5 32640582 missense probably benign
R2914:Yes1 UTSW 5 32640582 missense probably benign
R3104:Yes1 UTSW 5 32653171 missense probably damaging 1.00
R4407:Yes1 UTSW 5 32640585 missense possibly damaging 0.51
R4736:Yes1 UTSW 5 32660777 missense probably damaging 0.98
R4939:Yes1 UTSW 5 32645113 splice site probably null
R6187:Yes1 UTSW 5 32645041 missense probably damaging 1.00
R6318:Yes1 UTSW 5 32651686 missense possibly damaging 0.92
R6467:Yes1 UTSW 5 32653037 missense probably damaging 0.98
X0062:Yes1 UTSW 5 32653043 missense probably damaging 0.99
Posted On2016-08-02