Incidental Mutation 'R2422:Ly6g6e'
ID249408
Institutional Source Beutler Lab
Gene Symbol Ly6g6e
Ensembl Gene ENSMUSG00000013766
Gene Namelymphocyte antigen 6 complex, locus G6E
Synonyms2310011I02Rik, G6e
MMRRC Submission 040384-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #R2422 (G1)
Quality Score173
Status Validated
Chromosome17
Chromosomal Location35076902-35078804 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35078146 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 121 (R121Q)
Ref Sequence ENSEMBL: ENSMUSP00000133753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007259] [ENSMUST00000013910] [ENSMUST00000038507] [ENSMUST00000172494] [ENSMUST00000172678] [ENSMUST00000172959]
Predicted Effect probably benign
Transcript: ENSMUST00000007259
SMART Domains Protein: ENSMUSP00000007259
Gene: ENSMUSG00000073413

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000013910
AA Change: R89Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000013910
Gene: ENSMUSG00000013766
AA Change: R89Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LU 28 117 1.65e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038507
SMART Domains Protein: ENSMUSP00000046380
Gene: ENSMUSG00000034923

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 21 127 6.02e-7 SMART
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172494
AA Change: G80S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000133645
Gene: ENSMUSG00000013766
AA Change: G80S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:LU 28 50 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172639
Predicted Effect probably benign
Transcript: ENSMUST00000172678
AA Change: R89Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000134073
Gene: ENSMUSG00000013766
AA Change: R89Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
LU 28 117 1.65e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172903
Predicted Effect probably benign
Transcript: ENSMUST00000172959
AA Change: R121Q

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133753
Gene: ENSMUSG00000013766
AA Change: R121Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Activin_recp 82 143 2.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173120
Meta Mutation Damage Score 0.0532 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,613,475 V1084L probably benign Het
4933409G03Rik A T 2: 68,591,520 N47I probably benign Het
Actr5 T C 2: 158,636,081 F457S probably damaging Het
Adamts3 A G 5: 89,683,175 S1007P probably damaging Het
Adck2 C T 6: 39,583,998 A440V possibly damaging Het
Birc6 T A 17: 74,660,614 L301Q probably damaging Het
Ccdc18 A C 5: 108,228,588 E1298D probably damaging Het
Ccdc77 A G 6: 120,339,159 C186R probably benign Het
Cdk12 T G 11: 98,219,074 S640R probably benign Het
Cdv3 T C 9: 103,365,118 probably benign Het
Celf2 G A 2: 6,553,889 T364I probably damaging Het
Cmtr2 C A 8: 110,222,781 S574R probably benign Het
Col14a1 T C 15: 55,449,922 L56P unknown Het
Dctn1 C T 6: 83,199,800 L1241F possibly damaging Het
Depdc5 T C 5: 32,991,035 F1505S probably damaging Het
Dhcr24 G T 4: 106,561,094 probably benign Het
Dnajc21 A G 15: 10,461,935 S127P probably benign Het
Entpd7 A T 19: 43,728,088 Y507F possibly damaging Het
Fbp1 T C 13: 62,871,306 K24E probably benign Het
Galr1 A T 18: 82,405,923 N76K probably damaging Het
Glrb A G 3: 80,860,235 I226T probably damaging Het
Gm17421 T A 12: 113,369,487 noncoding transcript Het
Gm4950 T A 18: 51,865,784 Q33L probably benign Het
Gm5415 C T 1: 32,545,861 A323T possibly damaging Het
Gm6583 A T 5: 112,355,118 V240D probably damaging Het
Gnat2 A T 3: 108,095,539 M88L probably damaging Het
Gpr183 A G 14: 121,954,177 Y311H probably damaging Het
H2-M10.5 A G 17: 36,774,999 I308V probably benign Het
Hipk3 C T 2: 104,471,485 G121R probably benign Het
Hjurp A G 1: 88,266,561 probably benign Het
Homez C A 14: 54,857,574 V226F probably benign Het
Inf2 C A 12: 112,610,824 A1034D unknown Het
Kcnc4 G T 3: 107,445,547 P572T probably benign Het
Kmt2d T C 15: 98,862,266 E1037G unknown Het
Krt78 T C 15: 101,947,264 E704G probably damaging Het
Lama1 A T 17: 67,750,553 M541L probably benign Het
Lmbrd2 C T 15: 9,194,765 T618M possibly damaging Het
Mettl22 T C 16: 8,487,361 F293L probably damaging Het
Mib1 T C 18: 10,751,906 S263P probably damaging Het
Ndufaf1 T C 2: 119,655,737 E298G probably damaging Het
Nek1 T C 8: 61,019,901 V152A probably damaging Het
Nlrp4d T A 7: 10,362,945 D876V probably benign Het
Olfr178 T C 16: 58,889,965 E85G probably benign Het
Olfr235 A T 19: 12,268,919 T230S probably damaging Het
Olfr740 T C 14: 50,453,436 L128P probably damaging Het
Olfr975 A G 9: 39,950,528 L81P possibly damaging Het
Pcdha11 G T 18: 37,007,272 L651F probably damaging Het
Plekhg1 G A 10: 3,958,048 M988I probably benign Het
Plxnb1 G A 9: 109,108,438 R1169H probably benign Het
Ppp4r3a A G 12: 101,042,653 probably benign Het
Pum2 A T 12: 8,748,931 Q930L possibly damaging Het
Rbp4 T C 19: 38,124,344 E67G probably damaging Het
Rgs9 C A 11: 109,225,777 probably null Het
Sipa1 A T 19: 5,652,112 D923E possibly damaging Het
Smc1a A G X: 152,047,975 probably benign Het
Snx33 C A 9: 56,918,538 M546I probably benign Het
Spag17 T A 3: 100,027,619 W714R probably benign Het
Spata2 C T 2: 167,484,206 R231Q probably damaging Het
Stard9 C T 2: 120,700,284 R2341C probably benign Het
Tas2r116 A T 6: 132,855,594 I53F possibly damaging Het
Tlk1 T C 2: 70,770,005 E110G probably damaging Het
Tmem102 T A 11: 69,804,537 E203V probably benign Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,562 probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Tyw5 A G 1: 57,396,748 I82T possibly damaging Het
Uba6 A G 5: 86,132,616 probably null Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Unc13c T C 9: 73,931,547 Y674C probably damaging Het
Vmn2r105 T A 17: 20,227,835 R242S probably benign Het
Vmn2r12 A G 5: 109,086,532 Y605H probably benign Het
Wdr77 A T 3: 105,960,021 K62* probably null Het
Zfhx4 C A 3: 5,390,405 A1153E probably benign Het
Zfp266 C A 9: 20,499,262 V540L possibly damaging Het
Zfp638 C A 6: 83,966,439 probably benign Het
Zfp644 A G 5: 106,637,244 M479T possibly damaging Het
Zfp951 G A 5: 104,815,277 T141I probably benign Het
Other mutations in Ly6g6e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03376:Ly6g6e APN 17 35078232 makesense probably null
R0798:Ly6g6e UTSW 17 35078041 missense probably benign 0.00
R1186:Ly6g6e UTSW 17 35078008 missense probably benign 0.01
R2043:Ly6g6e UTSW 17 35077864 missense possibly damaging 0.66
R2420:Ly6g6e UTSW 17 35078146 missense probably benign 0.07
R2421:Ly6g6e UTSW 17 35078146 missense probably benign 0.07
R3873:Ly6g6e UTSW 17 35077183 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGTGTTGGCACCTCAGGTAG -3'
(R):5'- GCAGGTGTTTTCATGTCCAC -3'

Sequencing Primer
(F):5'- CTCAGGTAGGACTCTGGTGC -3'
(R):5'- ATGTCCACGGTGACACTGGAATC -3'
Posted On2014-11-12