Incidental Mutation 'IGL02406:Raet1e'
ID292063
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 #IGL02406
Quality Score
Status
Chromosome10
Chromosomal Location22158569-22374139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 22180636 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 37 (C37Y)
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: C37Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: C37Y

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: C37Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: C37Y

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 possibly damaging
Transcript: ENSMUST00000180648
AA Change: C37Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219
AA Change: C37Y

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: C37Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: C37Y

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G T 7: 120,540,602 A1496S probably damaging Het
Abra A T 15: 41,869,187 V161E probably damaging Het
Adcy4 G A 14: 55,770,047 T942I possibly damaging Het
Atrip A G 9: 109,065,419 V480A probably damaging Het
Azin1 A T 15: 38,491,565 D382E probably benign Het
BC034090 G T 1: 155,225,153 A455E probably benign Het
Clstn1 A G 4: 149,627,359 Y121C probably damaging Het
Cpq T A 15: 33,302,508 N268K probably damaging Het
Cpsf7 A G 19: 10,531,988 S88G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2j11 G A 4: 96,348,539 A10V possibly damaging Het
Dock4 T C 12: 40,777,207 V983A probably benign Het
Dspp G T 5: 104,177,366 E532* probably null Het
Ercc4 G T 16: 13,123,536 D243Y probably damaging Het
Fars2 C A 13: 36,410,162 D383E probably benign Het
Fip1l1 A G 5: 74,564,544 T280A probably benign Het
Gcgr T G 11: 120,537,184 N292K probably damaging Het
Gtpbp4 T A 13: 8,991,750 K85M possibly damaging Het
Jhy A G 9: 40,910,989 Y618H probably damaging Het
Mbd4 A T 6: 115,849,025 I314N possibly damaging Het
Mbtd1 C T 11: 93,908,858 T70M probably damaging Het
Mki67 T C 7: 135,698,793 H1504R probably benign Het
Mks1 T C 11: 87,862,785 V515A probably benign Het
Msantd2 G T 9: 37,523,459 V332L probably damaging Het
Myrip A T 9: 120,467,532 T836S probably benign Het
Nbea T C 3: 56,086,266 I238V probably benign Het
Plekhh1 T C 12: 79,069,009 probably benign Het
Prkdc A G 16: 15,670,535 N507S probably benign Het
Prss12 G A 3: 123,505,474 V632I possibly damaging Het
Puf60 A G 15: 76,074,609 S121P probably damaging Het
Ralgps2 G T 1: 156,828,268 A362E possibly damaging Het
Scn1a A G 2: 66,326,036 S510P possibly damaging Het
Skap2 A C 6: 51,874,473 probably null Het
Slc4a10 G A 2: 62,190,769 V54M probably benign Het
Spata17 A G 1: 187,117,261 probably null Het
Stoml3 T A 3: 53,503,250 N128K probably damaging Het
Tatdn2 T A 6: 113,704,213 S402R probably benign Het
Tmprss11f A G 5: 86,533,666 W243R probably damaging Het
Vmn2r32 A G 7: 7,476,710 Y155H probably benign Het
Vmn2r86 T A 10: 130,448,639 T528S possibly damaging Het
Zfhx3 C T 8: 108,955,742 A3271V unknown Het
Zkscan3 T C 13: 21,388,178 N428S possibly damaging Het
Zxdc A G 6: 90,398,836 S765G probably benign Het
Other mutations in Raet1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Raet1e APN 10 22181320 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 On2015-04-16