Incidental Mutation 'R6408:Raet1e'
ID 514544
Institutional Source Beutler Lab
Gene Symbol Raet1e
Ensembl Gene ENSMUSG00000053219
Gene Name retinoic acid early transcript 1E
Synonyms Rae-1 epsilon
MMRRC Submission 044553-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.670) question?
Stock # R6408 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22034441-22059820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22056645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 74 (T74A)
Ref Sequence ENSEMBL: ENSMUSP00000138022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065527] [ENSMUST00000105522] [ENSMUST00000178026] [ENSMUST00000180648] [ENSMUST00000181645]
AlphaFold Q9CZQ6
Predicted Effect probably benign
Transcript: ENSMUST00000065527
AA Change: T74A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: T74A

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 benign
Transcript: ENSMUST00000178026
AA Change: T74A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: T74A

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: ENSMUST00000180648
SMART Domains Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:MHC_I_2 31 66 3.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000181645
AA Change: T74A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: T74A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,691,858 (GRCm39) S50P probably damaging Het
4930407I10Rik T C 15: 81,949,307 (GRCm39) V1068A possibly damaging Het
Acss1 A G 2: 150,470,412 (GRCm39) probably null Het
Amer2 T C 14: 60,617,674 (GRCm39) I497T probably damaging Het
Azi2 A T 9: 117,890,550 (GRCm39) R51* probably null Het
Brdt A G 5: 107,533,358 (GRCm39) D946G probably damaging Het
Bzw2 C T 12: 36,157,524 (GRCm39) V314I possibly damaging Het
Capn13 A T 17: 73,672,954 (GRCm39) Y116* probably null Het
Clca4b A G 3: 144,625,036 (GRCm39) I485T probably benign Het
Crybg3 T A 16: 59,316,053 (GRCm39) T1130S possibly damaging Het
Cubn C T 2: 13,299,014 (GRCm39) V3220M probably damaging Het
Cyp4f16 T A 17: 32,770,173 (GRCm39) L514Q probably damaging Het
D7Ertd443e G T 7: 133,951,440 (GRCm39) Q31K probably benign Het
Dcaf15 T C 8: 84,831,355 (GRCm39) E8G probably benign Het
Ddx24 A C 12: 103,391,819 (GRCm39) probably benign Het
Diaph3 T C 14: 87,066,430 (GRCm39) M988V possibly damaging Het
Dlx4 A G 11: 95,036,078 (GRCm39) V77A probably benign Het
Dnah3 T C 7: 119,522,191 (GRCm39) probably null Het
Drc1 A G 5: 30,513,632 (GRCm39) E396G probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gbp2b T C 3: 142,323,899 (GRCm39) L568S probably benign Het
Gjb5 A T 4: 127,249,940 (GRCm39) F68Y probably benign Het
Hs6st3 C A 14: 119,376,046 (GRCm39) P74T probably benign Het
Kif26b T C 1: 178,745,133 (GRCm39) L1743P probably damaging Het
Lnx1 A T 5: 74,846,307 (GRCm39) C48S probably damaging Het
Lrfn2 A G 17: 49,377,654 (GRCm39) H245R probably damaging Het
Lrrc27 A G 7: 138,798,184 (GRCm39) E93G probably benign Het
Mettl6 T C 14: 31,201,683 (GRCm39) E253G probably damaging Het
Nmu A T 5: 76,491,818 (GRCm39) F106Y probably damaging Het
Pcsk7 T C 9: 45,820,994 (GRCm39) I142T probably benign Het
Polr3a A T 14: 24,536,939 (GRCm39) probably null Het
Psmb9 G T 17: 34,404,707 (GRCm39) A19E probably damaging Het
Pus7l A G 15: 94,429,456 (GRCm39) M454T probably benign Het
Ralb A C 1: 119,405,839 (GRCm39) Y43* probably null Het
Ralgapa1 C A 12: 55,730,695 (GRCm39) E1947* probably null Het
Rnf26rt A G 6: 76,473,441 (GRCm39) C392R probably damaging Het
Robo1 T C 16: 72,768,934 (GRCm39) Y500H probably benign Het
Shroom1 A C 11: 53,354,214 (GRCm39) T45P probably benign Het
Slit2 A G 5: 48,142,328 (GRCm39) probably benign Het
Spmip2 A G 3: 79,356,706 (GRCm39) R170G probably benign Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Taok2 A G 7: 126,470,164 (GRCm39) V888A probably benign Het
Tbc1d8 T A 1: 39,441,980 (GRCm39) D204V probably damaging Het
Thoc2l A G 5: 104,666,643 (GRCm39) I388M probably benign Het
Trav7d-4 C A 14: 53,007,624 (GRCm39) A39D probably damaging Het
Ush2a G T 1: 187,999,229 (GRCm39) E180* probably null Het
Vmn1r37 A G 6: 66,708,563 (GRCm39) D63G probably benign Het
Zfp282 G A 6: 47,857,319 (GRCm39) R184Q probably damaging Het
Other mutations in Raet1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Raet1e APN 10 22,057,219 (GRCm39) missense probably damaging 1.00
IGL02406:Raet1e APN 10 22,056,535 (GRCm39) missense probably damaging 1.00
IGL02484:Raet1e APN 10 22,056,666 (GRCm39) missense probably benign 0.01
R0049:Raet1e UTSW 10 22,056,761 (GRCm39) missense possibly damaging 0.65
R0238:Raet1e UTSW 10 22,056,761 (GRCm39) missense possibly damaging 0.65
R0238:Raet1e UTSW 10 22,056,761 (GRCm39) missense possibly damaging 0.65
R0239:Raet1e UTSW 10 22,056,761 (GRCm39) missense possibly damaging 0.65
R0639:Raet1e UTSW 10 22,050,274 (GRCm39) missense probably damaging 0.99
R0885:Raet1e UTSW 10 22,057,986 (GRCm39) unclassified probably benign
R3704:Raet1e UTSW 10 22,056,744 (GRCm39) missense probably benign 0.20
R4764:Raet1e UTSW 10 22,057,231 (GRCm39) missense probably damaging 1.00
R4799:Raet1e UTSW 10 22,057,199 (GRCm39) missense probably damaging 1.00
R5566:Raet1e UTSW 10 22,050,304 (GRCm39) missense probably damaging 1.00
R6034:Raet1e UTSW 10 22,057,990 (GRCm39) makesense probably null
R6034:Raet1e UTSW 10 22,057,990 (GRCm39) makesense probably null
R6077:Raet1e UTSW 10 22,057,887 (GRCm39) missense possibly damaging 0.72
R6238:Raet1e UTSW 10 22,056,770 (GRCm39) missense probably benign 0.01
R6939:Raet1e UTSW 10 22,050,256 (GRCm39) missense possibly damaging 0.86
R7147:Raet1e UTSW 10 22,057,179 (GRCm39) missense probably benign 0.29
R8026:Raet1e UTSW 10 22,057,198 (GRCm39) missense probably damaging 1.00
R8771:Raet1e UTSW 10 22,057,041 (GRCm39) missense probably damaging 1.00
R9303:Raet1e UTSW 10 22,057,872 (GRCm39) missense possibly damaging 0.86
Z1088:Raet1e UTSW 10 22,057,850 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GGGATCACAGAAACATGAGTCC -3'
(R):5'- AATGCTCAGCTCCTTCACAC -3'

Sequencing Primer
(F):5'- CAGAAACATGAGTCCTATGGCTTTC -3'
(R):5'- ACATTCCTGCATGTACTCTGC -3'
Posted On 2018-05-04