Incidental Mutation 'R0241:Raet1d'
ID66196
Institutional Source Beutler Lab
Gene Symbol Raet1d
Ensembl Gene ENSMUSG00000078452
Gene Nameretinoic acid early transcript delta
SynonymsRAE-1delta
MMRRC Submission 038479-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R0241 (G1)
Quality Score93
Status Not validated
Chromosome10
Chromosomal Location22360552-22374139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22371429 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000138328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095795] [ENSMUST00000178026] [ENSMUST00000182677]
Predicted Effect probably benign
Transcript: ENSMUST00000095795
AA Change: T135A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: T135A

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
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 benign
Transcript: ENSMUST00000182677
AA Change: T135A

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: T135A

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
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 89.8%
  • 20x: 65.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,583,818 V380E probably benign Het
Anapc1 A T 2: 128,628,629 M1527K possibly damaging Het
Bicra A T 7: 15,975,145 M1188K probably damaging Het
Brd7 G A 8: 88,345,850 R331W probably benign Het
Cactin A G 10: 81,322,652 T151A probably benign Het
Cadps G A 14: 12,376,675 T1274M probably damaging Het
Catsper3 T C 13: 55,804,854 M175T probably damaging Het
Chd5 A G 4: 152,366,132 D605G probably damaging Het
Chst12 G A 5: 140,524,299 R227H possibly damaging Het
Cobl A T 11: 12,254,524 V644E probably benign Het
Ddx31 A G 2: 28,848,291 T155A probably damaging Het
Dnah3 T C 7: 119,922,730 Q4069R probably damaging Het
Dnah8 T C 17: 30,765,679 I3117T probably damaging Het
Doc2b A G 11: 75,772,561 V355A probably damaging Het
Dock10 A T 1: 80,578,623 S578T probably benign Het
Fcer2a A G 8: 3,688,796 probably null Het
Fmnl1 G A 11: 103,182,170 probably null Het
Git2 T C 5: 114,733,229 E208G probably damaging Het
Hs6st3 T C 14: 119,138,820 F136L probably benign Het
Hydin G A 8: 110,398,023 V555I probably benign Het
Kmt2b A G 7: 30,577,069 L1726S probably damaging Het
Loxl3 A G 6: 83,050,133 D615G probably damaging Het
Nfasc C A 1: 132,636,993 A70S probably benign Het
Olfr1182 A T 2: 88,446,545 M131K possibly damaging Het
Olfr464 T A 11: 87,914,034 N291Y probably damaging Het
Olfr658 A G 7: 104,645,243 M41T probably benign Het
Olfr998 A G 2: 85,590,810 K90R probably benign Het
Pde7b A G 10: 20,436,216 C239R probably damaging Het
Pdzd2 A T 15: 12,367,941 L2654Q probably damaging Het
Pgap1 T C 1: 54,535,951 probably null Het
Proz T A 8: 13,065,356 M124K probably benign Het
Rapgef1 A G 2: 29,702,670 N558S possibly damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Simc1 G T 13: 54,550,525 L1319F probably damaging Het
Sspo A G 6: 48,461,495 E1499G possibly damaging Het
Tas2r118 T C 6: 23,969,339 Y241C probably damaging Het
Tbck A G 3: 132,724,875 E344G probably benign Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tmbim7 A T 5: 3,666,866 Y66F probably benign Het
Vil1 T C 1: 74,426,694 L548P probably damaging Het
Wdr3 A G 3: 100,145,657 V593A probably damaging Het
Zan T C 5: 137,421,822 T2858A unknown Het
Zbtb37 A T 1: 161,020,369 V356E probably benign Het
Zfp36 C T 7: 28,378,334 V50I probably damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Other mutations in Raet1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Raet1d APN 10 22370892 missense possibly damaging 0.82
IGL02011:Raet1d APN 10 22371574 missense probably damaging 1.00
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
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
Predicted Primers
Posted On2013-08-19