Incidental Mutation 'IGL02484:Raet1e'
ID295339
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? Probably essential (E-score: 0.781) question?
Stock #IGL02484
Quality Score
Status
Chromosome10
Chromosomal Location22158569-22374139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22180767 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 81 (M81L)
Ref Sequence ENSEMBL: ENSMUSP00000138022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065527] [ENSMUST00000105522] [ENSMUST00000178026] [ENSMUST00000180648] [ENSMUST00000181645]
Predicted Effect probably benign
Transcript: ENSMUST00000065527
AA Change: M81L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: M81L

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 benign
Transcript: ENSMUST00000178026
AA Change: M81L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: M81L

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 benign
Transcript: ENSMUST00000181645
AA Change: M81L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: M81L

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,563,352 noncoding transcript Het
Araf A G X: 20,853,909 probably benign Het
Arrb2 T A 11: 70,439,474 V308E probably damaging Het
Asap3 A G 4: 136,229,457 probably benign Het
Astn2 G A 4: 65,992,279 probably benign Het
Cactin T A 10: 81,322,974 I258N probably benign Het
Catsperg1 T C 7: 29,210,920 probably benign Het
Ccna1 C T 3: 55,048,494 D146N probably benign Het
Chrna3 T C 9: 55,015,537 Y329C probably damaging Het
Ctps2 G A X: 162,910,009 G56D probably damaging Het
Cyp4b1 T C 4: 115,647,557 D44G probably benign Het
D3Ertd751e A G 3: 41,753,720 probably null Het
Daxx T C 17: 33,912,242 V381A probably damaging Het
Dhx37 T A 5: 125,419,337 I714F possibly damaging Het
Dnah7b T C 1: 46,195,318 V1470A probably damaging Het
Efl1 T C 7: 82,683,039 I297T probably damaging Het
Fam26f T C 10: 34,126,404 T228A probably benign Het
Fnd3c2 A T X: 106,245,486 H442Q probably damaging Het
Glp2r A C 11: 67,740,166 V126G possibly damaging Het
Gm5699 G T 1: 30,998,762 noncoding transcript Het
Gpt2 A G 8: 85,516,233 D298G probably damaging Het
Gse1 G T 8: 120,575,262 probably benign Het
Hand1 T C 11: 57,831,594 T65A probably benign Het
Ints8 G A 4: 11,208,834 Q955* probably null Het
Lrguk C T 6: 34,092,791 P534S probably damaging Het
Lrp6 A G 6: 134,541,923 F60L probably benign Het
Mamld1 T C X: 71,118,652 I423T possibly damaging Het
Mrpl22 G A 11: 58,173,062 S36N possibly damaging Het
Mug2 A G 6: 122,072,753 E915G probably damaging Het
Olfr1442 T C 19: 12,674,859 F218S possibly damaging Het
Olfr493 C T 7: 108,346,606 R125Q probably damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pde4c T A 8: 70,748,052 probably benign Het
Pdxdc1 T C 16: 13,876,081 E159G possibly damaging Het
Poln T C 5: 34,129,377 E149G probably damaging Het
Pou5f2 T G 13: 78,025,905 L322R probably damaging Het
Ppm1k A T 6: 57,525,012 S55R possibly damaging Het
Ptges2 T A 2: 32,397,707 I149N probably damaging Het
Pus7l A G 15: 94,529,488 V471A possibly damaging Het
Sipa1l3 A G 7: 29,399,531 S438P probably damaging Het
Skint5 T A 4: 113,942,553 K126* probably null Het
Stfa2 T C 16: 36,405,207 T37A probably damaging Het
Ttll12 A G 15: 83,581,696 I433T possibly damaging Het
Vmn2r32 C T 7: 7,464,117 G804D probably damaging Het
Zc3h14 A G 12: 98,774,301 T84A probably benign Het
Other mutations in Raet1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Raet1e APN 10 22181320 missense probably damaging 1.00
IGL02406:Raet1e APN 10 22180636 missense probably damaging 1.00
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 On2015-04-16