Incidental Mutation 'R0280:Raet1d'
ID 37470
Institutional Source Beutler Lab
Gene Symbol Raet1d
Ensembl Gene ENSMUSG00000078452
Gene Name retinoic acid early transcript delta
Synonyms RAE-1delta
MMRRC Submission 038502-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock # R0280 (G1)
Quality Score 162
Status Validated
Chromosome 10
Chromosomal Location 22360552-22374139 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22370883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 37 (C37S)
Ref Sequence ENSEMBL: ENSMUSP00000138328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095795] [ENSMUST00000178026] [ENSMUST00000182677]
AlphaFold Q9JI58
Predicted Effect probably damaging
Transcript: ENSMUST00000095795
AA Change: C37S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: C37S

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 damaging
Transcript: ENSMUST00000182677
AA Change: C37S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: C37S

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 96% (55/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik T A 17: 56,885,169 Y577* probably null Het
Adam18 C T 8: 24,674,054 G38R probably benign Het
Ankrd16 T G 2: 11,781,501 V187G probably damaging Het
AU019823 T C 9: 50,609,379 T123A probably damaging Het
Ccdc110 A T 8: 45,943,450 N793Y probably benign Het
Ccdc170 T C 10: 4,558,663 I629T possibly damaging Het
Clcn6 A G 4: 148,008,715 L836P probably damaging Het
Colgalt2 G T 1: 152,508,561 A551S possibly damaging Het
Crocc T C 4: 141,028,426 E1097G probably damaging Het
Csmd1 A T 8: 16,271,602 V494E probably damaging Het
Drg1 A T 11: 3,256,537 probably null Het
Dscam T C 16: 97,039,006 K134E possibly damaging Het
Dyrk1b T C 7: 28,184,312 Y198H probably damaging Het
Esr1 A G 10: 4,856,951 D289G probably benign Het
Esr1 G T 10: 4,939,289 V396F probably damaging Het
Evi5l T C 8: 4,193,133 V339A probably damaging Het
Fat4 A T 3: 38,890,816 Q1286L probably benign Het
Frem1 T C 4: 82,969,444 H1118R probably damaging Het
Fuk A T 8: 110,894,748 V188D probably damaging Het
Fut9 C T 4: 25,619,852 D321N probably benign Het
Gaa T G 11: 119,284,547 V917G probably damaging Het
Gm973 GCC GC 1: 59,544,680 probably null Het
Kidins220 A G 12: 25,010,141 T767A probably damaging Het
Kif7 A G 7: 79,698,823 S1257P probably benign Het
Ltn1 A G 16: 87,397,838 L1391P probably damaging Het
Mast3 A G 8: 70,783,795 Y681H probably damaging Het
Mast3 A G 8: 70,787,920 V291A possibly damaging Het
Metrn C T 17: 25,795,135 R239H probably benign Het
Mphosph10 C A 7: 64,376,703 K666N possibly damaging Het
Mtbp C T 15: 55,586,461 T433I probably benign Het
Mtmr2 A G 9: 13,799,249 K365E probably damaging Het
Nanog A G 6: 122,713,398 D229G probably damaging Het
Npepps T C 11: 97,241,014 N338S possibly damaging Het
Nphp4 T A 4: 152,551,936 probably benign Het
Olfr1279 T C 2: 111,307,072 F289S possibly damaging Het
Plcl2 A G 17: 50,607,034 E357G probably damaging Het
Polb A T 8: 22,640,392 Y173N probably damaging Het
R3hdm1 T A 1: 128,162,775 S74T probably benign Het
Reln G A 5: 22,227,513 probably benign Het
Rps6kc1 T C 1: 190,809,000 S369G probably damaging Het
Sgf29 A G 7: 126,671,571 E108G probably benign Het
Sh3tc1 A G 5: 35,706,017 L942P probably damaging Het
Slc22a27 A T 19: 7,896,822 L188* probably null Het
Slc9a3 T A 13: 74,159,424 I445N probably damaging Het
Sufu A T 19: 46,450,673 probably benign Het
Tomm40 G A 7: 19,713,751 T118I probably damaging Het
Ttc25 A T 11: 100,550,265 K107N probably damaging Het
Ttn C T 2: 76,740,479 R26690H probably damaging Het
Vmn2r16 A G 5: 109,340,139 I293V possibly damaging Het
Vmn2r68 T A 7: 85,233,249 probably benign Het
Vmn2r68 C G 7: 85,233,258 probably null Het
Vsig8 A G 1: 172,561,538 D119G probably benign 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
R0241:Raet1d UTSW 10 22371429 missense probably benign 0.21
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 PCR Primer
(F):5'- GGTGGACATCTTGAACAGGGTCTTC -3'
(R):5'- GTTGAATTCCCAGGTGGCACTAGG -3'

Sequencing Primer
(F):5'- ACATCTTGAACAGGGTCTTCTCTTC -3'
(R):5'- CTCTACAAGCTTATGTGTCAGTATC -3'
Posted On 2013-05-23