Incidental Mutation 'IGL02011:Raet1d'
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ID183354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raet1d
Ensembl Gene ENSMUSG00000078452
Gene Nameretinoic acid early transcript delta
SynonymsRAE-1delta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL02011
Quality Score
Status
Chromosome10
Chromosomal Location22360552-22374139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22371574 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 183 (I183K)
Ref Sequence ENSEMBL: ENSMUSP00000138328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095795] [ENSMUST00000178026] [ENSMUST00000182677]
Predicted Effect probably damaging
Transcript: ENSMUST00000095795
AA Change: I183K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: I183K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 200 2.6e-110 PFAM
low complexity region 207 227 N/A INTRINSIC
transmembrane domain 231 248 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178026
SMART Domains Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219

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 damaging
Transcript: ENSMUST00000182677
AA Change: I183K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: I183K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 200 5.4e-119 PFAM
low complexity region 207 227 N/A INTRINSIC
transmembrane domain 231 248 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Ctdsp1 C T 1: 74,394,016 probably benign Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Raet1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Raet1d APN 10 22370892 missense possibly damaging 0.82
FR4340:Raet1d UTSW 10 22371559 missense probably benign
FR4342:Raet1d UTSW 10 22371559 missense probably benign
FR4449:Raet1d UTSW 10 22370915 small insertion probably benign
FR4589:Raet1d UTSW 10 22370918 nonsense probably null
PIT4434001:Raet1d UTSW 10 22371534 nonsense probably null
R0241:Raet1d UTSW 10 22371429 missense probably benign 0.21
R0241:Raet1d UTSW 10 22371429 missense probably benign 0.21
R0280:Raet1d UTSW 10 22370883 missense probably damaging 1.00
R0790:Raet1d UTSW 10 22370896 missense probably damaging 1.00
R1671:Raet1d UTSW 10 22362715 start codon destroyed probably null 0.18
R1901:Raet1d UTSW 10 22371451 missense probably damaging 0.96
R2018:Raet1d UTSW 10 22371012 missense probably damaging 1.00
R6004:Raet1d UTSW 10 22371394 missense probably damaging 1.00
R6210:Raet1d UTSW 10 22370950 missense probably damaging 1.00
R7661:Raet1d UTSW 10 22372257 missense possibly damaging 0.73
R8385:Raet1d UTSW 10 22370918 missense probably benign 0.03
Posted On2014-05-07