Incidental Mutation 'R7661:Raet1d'
ID 591575
Institutional Source Beutler Lab
Gene Symbol Raet1d
Ensembl Gene ENSMUSG00000078452
Gene Name retinoic acid early transcript delta
Synonyms RAE-1delta
MMRRC Submission 045736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22236451-22250038 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22248156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 225 (S225P)
Ref Sequence ENSEMBL: ENSMUSP00000093471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095795] [ENSMUST00000178026] [ENSMUST00000182677]
AlphaFold Q9JI58
Predicted Effect possibly damaging
Transcript: ENSMUST00000095795
AA Change: S225P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093471
Gene: ENSMUSG00000078452
AA Change: S225P

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 possibly damaging
Transcript: ENSMUST00000182677
AA Change: S225P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138328
Gene: ENSMUSG00000078452
AA Change: S225P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Blmh T A 11: 76,877,341 (GRCm39) V419D probably damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Capza3 C A 6: 139,987,498 (GRCm39) D32E probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Ifit1bl2 T A 19: 34,596,428 (GRCm39) Y396F probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Or51aa2 A T 7: 103,187,826 (GRCm39) V205E probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Rnf24 T C 2: 131,164,135 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I probably benign Het
Other mutations in Raet1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Raet1d APN 10 22,246,791 (GRCm39) missense possibly damaging 0.82
IGL02011:Raet1d APN 10 22,247,473 (GRCm39) missense probably damaging 1.00
FR4340:Raet1d UTSW 10 22,247,458 (GRCm39) missense probably benign
FR4342:Raet1d UTSW 10 22,247,458 (GRCm39) missense probably benign
FR4449:Raet1d UTSW 10 22,246,814 (GRCm39) small insertion probably benign
FR4589:Raet1d UTSW 10 22,246,817 (GRCm39) nonsense probably null
PIT4434001:Raet1d UTSW 10 22,247,433 (GRCm39) nonsense probably null
R0241:Raet1d UTSW 10 22,247,328 (GRCm39) missense probably benign 0.21
R0241:Raet1d UTSW 10 22,247,328 (GRCm39) missense probably benign 0.21
R0280:Raet1d UTSW 10 22,246,782 (GRCm39) missense probably damaging 1.00
R0790:Raet1d UTSW 10 22,246,795 (GRCm39) missense probably damaging 1.00
R1671:Raet1d UTSW 10 22,238,614 (GRCm39) start codon destroyed probably null 0.18
R1901:Raet1d UTSW 10 22,247,350 (GRCm39) missense probably damaging 0.96
R2018:Raet1d UTSW 10 22,246,911 (GRCm39) missense probably damaging 1.00
R6004:Raet1d UTSW 10 22,247,293 (GRCm39) missense probably damaging 1.00
R6210:Raet1d UTSW 10 22,246,849 (GRCm39) missense probably damaging 1.00
R8385:Raet1d UTSW 10 22,246,817 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATCATGTCTCTCTACTCGGGAC -3'
(R):5'- GAGGAGAATTCCCATCCCTAATAC -3'

Sequencing Primer
(F):5'- CTCTACTCGGGACTTTGTAAAATAG -3'
(R):5'- GAATTCCCATCCCTAATACCCAGTGG -3'
Posted On 2019-11-12