Incidental Mutation 'IGL01077:Raet1e'
ID52060
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raet1e
Ensembl Gene ENSMUSG00000053219
Gene Nameretinoic acid early transcript 1E
SynonymsRae-1 epsilon
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.534) question?
Stock #IGL01077
Quality Score
Status
Chromosome10
Chromosomal Location22158569-22374139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22181320 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 181 (L181S)
Ref Sequence ENSEMBL: ENSMUSP00000138022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065527] [ENSMUST00000105522] [ENSMUST00000178026] [ENSMUST00000180648] [ENSMUST00000181645]
Predicted Effect probably damaging
Transcript: ENSMUST00000065527
AA Change: L181S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: L181S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 202 1e-121 PFAM
low complexity region 209 229 N/A INTRINSIC
transmembrane domain 233 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105522
SMART Domains Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PDB:4G59|B 29 195 2e-9 PDB
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178026
AA Change: L181S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: L181S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 202 7.3e-112 PFAM
low complexity region 209 229 N/A INTRINSIC
transmembrane domain 233 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180648
SMART Domains Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 66 3.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000181645
AA Change: L181S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: L181S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 202 1e-121 PFAM
low complexity region 209 229 N/A INTRINSIC
transmembrane domain 233 250 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,057,410 probably benign Het
Arhgap4 A G X: 73,900,093 probably benign Het
Ascc3 T G 10: 50,649,317 probably benign Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Car10 T C 11: 93,597,143 I222T possibly damaging Het
Cep250 G A 2: 155,962,134 V55M probably damaging Het
Chst4 T A 8: 110,029,965 Y422F probably benign Het
Dnajc13 T C 9: 104,231,021 E185G probably benign Het
Dtx2 T A 5: 136,029,203 M454K possibly damaging Het
Flg2 T A 3: 93,220,206 S2142T unknown Het
Ganc C T 2: 120,446,515 T686M possibly damaging Het
Gm53 C T 11: 96,251,768 noncoding transcript Het
Gria3 T C X: 41,588,492 V254A possibly damaging Het
H2-DMb2 G T 17: 34,148,613 A3S probably damaging Het
H2-DMb2 A G 17: 34,147,720 Y42C probably damaging Het
Myzap T C 9: 71,546,760 E343G probably damaging Het
Nap1l2 T C X: 103,185,316 D332G probably benign Het
Npr1 T G 3: 90,458,362 D628A probably damaging Het
Rnf43 G T 11: 87,731,892 M606I probably benign Het
Serpinb6b G A 13: 32,978,066 D283N possibly damaging Het
Skiv2l2 A T 13: 112,914,489 I184K probably damaging Het
Slit2 A G 5: 48,217,443 probably null Het
Supt5 C T 7: 28,323,788 W323* probably null Het
Svep1 T A 4: 58,068,760 I3009F possibly damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tll1 T C 8: 64,070,232 Y482C probably benign Het
Trappc8 G A 18: 20,836,978 T985I probably benign Het
Zfp945 T C 17: 22,852,385 K180R probably damaging Het
Other mutations in Raet1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02406:Raet1e APN 10 22180636 missense probably damaging 1.00
IGL02484:Raet1e APN 10 22180767 missense probably benign 0.01
R0049:Raet1e UTSW 10 22180862 missense possibly damaging 0.65
R0238:Raet1e UTSW 10 22180862 missense possibly damaging 0.65
R0238:Raet1e UTSW 10 22180862 missense possibly damaging 0.65
R0239:Raet1e UTSW 10 22180862 missense possibly damaging 0.65
R0639:Raet1e UTSW 10 22174375 missense probably damaging 0.99
R0885:Raet1e UTSW 10 22182087 unclassified probably benign
R3704:Raet1e UTSW 10 22180845 missense probably benign 0.20
R4764:Raet1e UTSW 10 22181332 missense probably damaging 1.00
R4799:Raet1e UTSW 10 22181300 missense probably damaging 1.00
R5566:Raet1e UTSW 10 22174405 missense probably damaging 1.00
R6034:Raet1e UTSW 10 22182091 makesense probably null
R6034:Raet1e UTSW 10 22182091 makesense probably null
R6077:Raet1e UTSW 10 22181988 missense possibly damaging 0.72
R6238:Raet1e UTSW 10 22180871 missense probably benign 0.01
R6408:Raet1e UTSW 10 22180746 missense probably benign 0.29
R6939:Raet1e UTSW 10 22174357 missense possibly damaging 0.86
R7147:Raet1e UTSW 10 22181280 missense probably benign 0.29
Z1088:Raet1e UTSW 10 22181951 missense possibly damaging 0.56
Posted On2013-06-21