Incidental Mutation 'R3808:Rdh16f1'
ID 275049
Institutional Source Beutler Lab
Gene Symbol Rdh16f1
Ensembl Gene ENSMUSG00000099009
Gene Name RDH16 family member 1
Synonyms Gm28046
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127595656-127628563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127624569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 136 (V136M)
Ref Sequence ENSEMBL: ENSMUSP00000116574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000052652
AA Change: V136M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: V136M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 220 3.1e-41 PFAM
Pfam:DUF1776 43 303 5.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128133
Predicted Effect probably damaging
Transcript: ENSMUST00000128247
AA Change: V136M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: V136M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:adh_short 30 195 1.7e-23 PFAM
Pfam:DUF1776 43 303 3.3e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Serpina3j A T 12: 104,286,086 (GRCm39) I414F probably benign Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Rdh16f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Rdh16f1 APN 10 127,595,844 (GRCm39) missense probably benign 0.00
R0445:Rdh16f1 UTSW 10 127,626,736 (GRCm39) missense probably benign 0.18
R1623:Rdh16f1 UTSW 10 127,626,722 (GRCm39) missense probably benign 0.00
R2336:Rdh16f1 UTSW 10 127,624,624 (GRCm39) missense probably benign 0.08
R3808:Rdh16f1 UTSW 10 127,624,568 (GRCm39) missense probably benign 0.03
R4544:Rdh16f1 UTSW 10 127,626,706 (GRCm39) missense probably benign 0.13
R4745:Rdh16f1 UTSW 10 127,626,685 (GRCm39) missense probably benign 0.03
R5005:Rdh16f1 UTSW 10 127,624,546 (GRCm39) missense probably benign 0.14
R5832:Rdh16f1 UTSW 10 127,624,618 (GRCm39) missense probably damaging 0.99
R6923:Rdh16f1 UTSW 10 127,624,737 (GRCm39) critical splice donor site probably null
R6927:Rdh16f1 UTSW 10 127,624,561 (GRCm39) missense probably benign 0.28
R7008:Rdh16f1 UTSW 10 127,626,775 (GRCm39) missense probably benign 0.06
R8458:Rdh16f1 UTSW 10 127,624,714 (GRCm39) missense probably damaging 1.00
Z1088:Rdh16f1 UTSW 10 127,624,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACATGTCACAGTGTGCTTACC -3'
(R):5'- CCGATGATGTGACTTAAAGAGTGG -3'

Sequencing Primer
(F):5'- CACAGTGTGCTTACCTTATTGAATG -3'
(R):5'- CTGCCCTTCCAGTACCTGAGG -3'
Posted On 2015-04-02