Incidental Mutation 'R7480:Rai14'
ID 579762
Institutional Source Beutler Lab
Gene Symbol Rai14
Ensembl Gene ENSMUSG00000022246
Gene Name retinoic acid induced 14
Synonyms 1700020L11Rik, Ankycorbin, 1700008J19Rik, Norpeg
MMRRC Submission 045554-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R7480 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 10569055-10714710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 10571622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 940 (E940D)
Ref Sequence ENSEMBL: ENSMUSP00000087815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090339] [ENSMUST00000169385] [ENSMUST00000227506]
AlphaFold Q9EP71
Predicted Effect probably benign
Transcript: ENSMUST00000090339
AA Change: E940D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000087815
Gene: ENSMUSG00000022246
AA Change: E940D

DomainStartEndE-ValueType
Blast:ANK 18 48 4e-10 BLAST
ANK 52 81 1.66e-6 SMART
ANK 85 117 7.02e-5 SMART
ANK 118 147 2.1e-3 SMART
ANK 151 180 2.16e-5 SMART
ANK 184 213 2.85e-5 SMART
ANK 217 247 9.33e2 SMART
low complexity region 343 357 N/A INTRINSIC
Blast:HAMP 595 646 6e-19 BLAST
low complexity region 897 931 N/A INTRINSIC
Blast:ANK 944 977 6e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169385
AA Change: E940D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126325
Gene: ENSMUSG00000022246
AA Change: E940D

DomainStartEndE-ValueType
Blast:ANK 18 48 4e-10 BLAST
ANK 52 81 1.66e-6 SMART
ANK 85 117 7.02e-5 SMART
ANK 118 147 2.1e-3 SMART
ANK 151 180 2.16e-5 SMART
ANK 184 213 2.85e-5 SMART
ANK 217 247 9.33e2 SMART
low complexity region 343 357 N/A INTRINSIC
Blast:HAMP 595 646 6e-19 BLAST
low complexity region 897 931 N/A INTRINSIC
Blast:ANK 944 977 6e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000227506
AA Change: E911D

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg9 T G 9: 50,733,928 (GRCm39) M542R probably benign Het
Apol10b G T 15: 77,472,988 (GRCm39) A22D probably benign Het
Arhgap45 T A 10: 79,862,936 (GRCm39) L704* probably null Het
Bicc1 T C 10: 70,779,306 (GRCm39) D694G probably damaging Het
C1ql3 A T 2: 13,015,150 (GRCm39) I170N probably damaging Het
Casz1 T C 4: 149,029,043 (GRCm39) F1163L probably damaging Het
Ces2f A G 8: 105,681,338 (GRCm39) K559R possibly damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Cr2 C T 1: 194,836,484 (GRCm39) C893Y probably damaging Het
Csf1r T G 18: 61,250,610 (GRCm39) D440E probably benign Het
Cul9 A T 17: 46,848,738 (GRCm39) M666K probably benign Het
Dapk1 A G 13: 60,905,311 (GRCm39) D1007G probably benign Het
Dlk1 T A 12: 109,421,540 (GRCm39) C85S probably damaging Het
Epb41l3 A C 17: 69,568,867 (GRCm39) probably null Het
Eri2 T A 7: 119,385,734 (GRCm39) R256* probably null Het
Fshr A C 17: 89,292,802 (GRCm39) Y625* probably null Het
Galk2 A G 2: 125,788,845 (GRCm39) I300V probably benign Het
Garin1a G A 6: 29,281,435 (GRCm39) probably null Het
Gm3409 T A 5: 146,476,311 (GRCm39) V154E probably damaging Het
Gm7356 A G 17: 14,221,327 (GRCm39) I234T possibly damaging Het
Gtf3c1 T C 7: 125,241,713 (GRCm39) Y1995C probably benign Het
Herc6 C T 6: 57,558,206 (GRCm39) T62I possibly damaging Het
Hif3a G A 7: 16,776,560 (GRCm39) T462I possibly damaging Het
Hmcn1 A T 1: 150,552,985 (GRCm39) probably null Het
Iqca1l T G 5: 24,751,904 (GRCm39) E498A probably damaging Het
Jrk G T 15: 74,578,902 (GRCm39) P128T probably benign Het
Kctd14 T C 7: 97,107,431 (GRCm39) F229L probably benign Het
Kif27 A T 13: 58,436,025 (GRCm39) V1256E probably benign Het
Klk13 T C 7: 43,370,846 (GRCm39) S133P probably benign Het
Mpzl1 A G 1: 165,432,257 (GRCm39) V176A possibly damaging Het
Mxi1 A G 19: 53,360,066 (GRCm39) T263A possibly damaging Het
Nfxl1 C T 5: 72,716,595 (GRCm39) W5* probably null Het
Nt5dc1 C T 10: 34,200,450 (GRCm39) G190R probably damaging Het
Nt5dc1 C A 10: 34,200,449 (GRCm39) G190V probably damaging Het
Oprd1 A G 4: 131,844,492 (GRCm39) I172T possibly damaging Het
Or1f19 A T 16: 3,410,493 (GRCm39) T78S probably benign Het
Or4k38 A G 2: 111,165,737 (GRCm39) S229P probably benign Het
Or6f1 A G 7: 85,970,888 (GRCm39) S91P probably benign Het
Or7e173 C T 9: 19,939,230 (GRCm39) M1I probably null Het
Pafah1b1 A C 11: 74,576,740 (GRCm39) C184G probably damaging Het
Pde5a A T 3: 122,596,797 (GRCm39) N495Y possibly damaging Het
Piezo1 A T 8: 123,225,234 (GRCm39) Y588* probably null Het
Plekha7 A T 7: 115,736,403 (GRCm39) probably null Het
Pramel11 T C 4: 143,622,065 (GRCm39) D430G probably benign Het
Prdm11 T C 2: 92,805,669 (GRCm39) K427R probably benign Het
Rasl11b T A 5: 74,358,771 (GRCm39) V92E possibly damaging Het
Rassf8 T A 6: 145,765,757 (GRCm39) I29K unknown Het
Reg3a C T 6: 78,359,330 (GRCm39) T110I probably damaging Het
Scaf1 C T 7: 44,657,073 (GRCm39) G602D unknown Het
Senp6 T C 9: 80,029,199 (GRCm39) C521R probably damaging Het
Senp7 G A 16: 55,975,589 (GRCm39) V432I possibly damaging Het
Skint8 A T 4: 111,785,784 (GRCm39) R77* probably null Het
Slamf9 G A 1: 172,305,040 (GRCm39) C218Y probably damaging Het
Slc8a1 T C 17: 81,956,649 (GRCm39) T130A probably damaging Het
Smpdl3a A G 10: 57,678,574 (GRCm39) I126V possibly damaging Het
Taar9 T A 10: 23,984,843 (GRCm39) N197I possibly damaging Het
Tango6 A T 8: 107,423,359 (GRCm39) D378V possibly damaging Het
Tfb2m A G 1: 179,356,747 (GRCm39) F396L probably benign Het
Thbs4 G A 13: 92,903,729 (GRCm39) P429L probably benign Het
Tnxb A G 17: 34,934,747 (GRCm39) D2452G probably damaging Het
Ulk3 C T 9: 57,498,523 (GRCm39) R131* probably null Het
Vmn1r179 A T 7: 23,628,558 (GRCm39) R250* probably null Het
Vmn1r54 A G 6: 90,246,160 (GRCm39) I25V possibly damaging Het
Wnt7a C A 6: 91,371,395 (GRCm39) R189L probably benign Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Xpo6 G A 7: 125,701,505 (GRCm39) R1112* probably null Het
Zfp114 T A 7: 23,881,307 (GRCm39) V552D probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Rai14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Rai14 APN 15 10,599,797 (GRCm39) splice site probably benign
IGL01625:Rai14 APN 15 10,572,460 (GRCm39) missense probably benign 0.30
IGL01925:Rai14 APN 15 10,595,948 (GRCm39) missense possibly damaging 0.88
IGL02053:Rai14 APN 15 10,633,242 (GRCm39) missense probably benign 0.00
IGL02531:Rai14 APN 15 10,574,868 (GRCm39) missense probably damaging 1.00
IGL02748:Rai14 APN 15 10,589,421 (GRCm39) missense probably benign 0.14
IGL02945:Rai14 APN 15 10,574,795 (GRCm39) missense probably benign 0.00
PIT4618001:Rai14 UTSW 15 10,575,242 (GRCm39) missense probably damaging 1.00
R1400:Rai14 UTSW 15 10,571,634 (GRCm39) missense probably damaging 0.98
R1583:Rai14 UTSW 15 10,588,002 (GRCm39) missense probably damaging 1.00
R1686:Rai14 UTSW 15 10,592,282 (GRCm39) missense probably damaging 0.98
R1721:Rai14 UTSW 15 10,633,314 (GRCm39) missense probably damaging 1.00
R1867:Rai14 UTSW 15 10,633,314 (GRCm39) missense probably damaging 1.00
R1868:Rai14 UTSW 15 10,633,314 (GRCm39) missense probably damaging 1.00
R1998:Rai14 UTSW 15 10,595,067 (GRCm39) splice site probably null
R2118:Rai14 UTSW 15 10,575,252 (GRCm39) missense probably benign 0.00
R3161:Rai14 UTSW 15 10,633,250 (GRCm39) missense possibly damaging 0.74
R3162:Rai14 UTSW 15 10,633,250 (GRCm39) missense possibly damaging 0.74
R3162:Rai14 UTSW 15 10,633,250 (GRCm39) missense possibly damaging 0.74
R4049:Rai14 UTSW 15 10,592,298 (GRCm39) missense probably benign 0.30
R4611:Rai14 UTSW 15 10,592,224 (GRCm39) missense probably damaging 1.00
R4760:Rai14 UTSW 15 10,575,776 (GRCm39) missense possibly damaging 0.60
R4863:Rai14 UTSW 15 10,572,556 (GRCm39) missense probably damaging 0.99
R5022:Rai14 UTSW 15 10,574,592 (GRCm39) missense probably damaging 0.96
R5110:Rai14 UTSW 15 10,690,496 (GRCm39) start gained probably benign
R5410:Rai14 UTSW 15 10,575,024 (GRCm39) missense probably damaging 1.00
R5643:Rai14 UTSW 15 10,593,137 (GRCm39) missense probably benign 0.03
R5644:Rai14 UTSW 15 10,593,137 (GRCm39) missense probably benign 0.03
R5681:Rai14 UTSW 15 10,575,206 (GRCm39) missense probably damaging 1.00
R5934:Rai14 UTSW 15 10,575,245 (GRCm39) missense probably damaging 0.98
R6333:Rai14 UTSW 15 10,575,022 (GRCm39) nonsense probably null
R6338:Rai14 UTSW 15 10,575,062 (GRCm39) missense probably damaging 1.00
R6864:Rai14 UTSW 15 10,633,254 (GRCm39) missense possibly damaging 0.95
R7015:Rai14 UTSW 15 10,589,401 (GRCm39) nonsense probably null
R7155:Rai14 UTSW 15 10,595,089 (GRCm39) missense possibly damaging 0.53
R7574:Rai14 UTSW 15 10,593,189 (GRCm39) missense probably damaging 1.00
R7578:Rai14 UTSW 15 10,593,189 (GRCm39) missense probably damaging 1.00
R7578:Rai14 UTSW 15 10,574,914 (GRCm39) missense probably benign
R7597:Rai14 UTSW 15 10,574,937 (GRCm39) missense possibly damaging 0.94
R7658:Rai14 UTSW 15 10,593,189 (GRCm39) missense probably damaging 1.00
R7779:Rai14 UTSW 15 10,593,112 (GRCm39) missense probably damaging 1.00
R7946:Rai14 UTSW 15 10,574,287 (GRCm39) splice site probably null
R8171:Rai14 UTSW 15 10,633,249 (GRCm39) missense probably damaging 1.00
R8195:Rai14 UTSW 15 10,575,302 (GRCm39) missense probably benign
R8471:Rai14 UTSW 15 10,575,245 (GRCm39) missense probably benign 0.01
R8485:Rai14 UTSW 15 10,575,122 (GRCm39) missense probably damaging 1.00
R9075:Rai14 UTSW 15 10,589,403 (GRCm39) missense probably damaging 1.00
R9287:Rai14 UTSW 15 10,592,204 (GRCm39) missense probably benign 0.14
R9502:Rai14 UTSW 15 10,587,947 (GRCm39) missense possibly damaging 0.50
R9603:Rai14 UTSW 15 10,595,116 (GRCm39) nonsense probably null
R9665:Rai14 UTSW 15 10,574,803 (GRCm39) missense probably damaging 1.00
R9767:Rai14 UTSW 15 10,610,127 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAACATCTGCTGCCTCATTATTGTAAC -3'
(R):5'- GTGAATTTAGCAAATCTAGGAGCTTCC -3'

Sequencing Primer
(F):5'- GCTGGTCTCAAACTCACGATATAG -3'
(R):5'- GGAGCTTCCTGTGCTAACATACAG -3'
Posted On 2019-10-07