Incidental Mutation 'IGL00264:Rdh14'
ID4440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rdh14
Ensembl Gene ENSMUSG00000020621
Gene Nameretinol dehydrogenase 14 (all-trans and 9-cis)
SynonymsPAN2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL00264
Quality Score
Status
Chromosome12
Chromosomal Location10390772-10395562 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 10391134 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 99 (G99W)
Ref Sequence ENSEMBL: ENSMUSP00000020947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002456] [ENSMUST00000020947] [ENSMUST00000118657] [ENSMUST00000147323] [ENSMUST00000217944] [ENSMUST00000218026] [ENSMUST00000218287] [ENSMUST00000218327] [ENSMUST00000218339] [ENSMUST00000218417] [ENSMUST00000218551] [ENSMUST00000219049] [ENSMUST00000219292] [ENSMUST00000219826] [ENSMUST00000220257] [ENSMUST00000220611] [ENSMUST00000223534]
Predicted Effect probably benign
Transcript: ENSMUST00000002456
SMART Domains Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 570 1.6e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000020947
AA Change: G99W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621
AA Change: G99W

DomainStartEndE-ValueType
transmembrane domain 2 21 N/A INTRINSIC
Pfam:KR 45 199 3.4e-10 PFAM
Pfam:adh_short 45 258 5.4e-34 PFAM
Pfam:Epimerase 47 248 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118657
SMART Domains Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
low complexity region 135 143 N/A INTRINSIC
low complexity region 225 231 N/A INTRINSIC
Pfam:5-nucleotidase 280 553 7e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147323
SMART Domains Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 137 145 N/A INTRINSIC
low complexity region 227 233 N/A INTRINSIC
Pfam:5-nucleotidase 298 466 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217944
Predicted Effect probably benign
Transcript: ENSMUST00000218026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218148
Predicted Effect probably benign
Transcript: ENSMUST00000218287
Predicted Effect probably benign
Transcript: ENSMUST00000218288
Predicted Effect probably benign
Transcript: ENSMUST00000218327
Predicted Effect probably benign
Transcript: ENSMUST00000218339
Predicted Effect probably benign
Transcript: ENSMUST00000218417
Predicted Effect probably benign
Transcript: ENSMUST00000218551
Predicted Effect probably benign
Transcript: ENSMUST00000219049
Predicted Effect probably benign
Transcript: ENSMUST00000219292
Predicted Effect probably benign
Transcript: ENSMUST00000219630
Predicted Effect probably benign
Transcript: ENSMUST00000219826
Predicted Effect probably benign
Transcript: ENSMUST00000220257
Predicted Effect probably benign
Transcript: ENSMUST00000220611
Predicted Effect probably benign
Transcript: ENSMUST00000223534
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in Rdh14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00928:Rdh14 APN 12 10394803 missense probably damaging 1.00
IGL02207:Rdh14 APN 12 10394712 missense possibly damaging 0.81
H8562:Rdh14 UTSW 12 10394709 missense probably damaging 1.00
R1521:Rdh14 UTSW 12 10394613 missense probably damaging 1.00
R1943:Rdh14 UTSW 12 10391162 missense probably benign 0.09
R3980:Rdh14 UTSW 12 10394703 missense probably benign 0.04
R4289:Rdh14 UTSW 12 10394949 missense probably benign 0.00
R4414:Rdh14 UTSW 12 10391231 splice site probably null
R4415:Rdh14 UTSW 12 10391231 splice site probably null
R4417:Rdh14 UTSW 12 10391231 splice site probably null
R4594:Rdh14 UTSW 12 10394567 missense probably damaging 1.00
R5397:Rdh14 UTSW 12 10394869 missense probably damaging 0.99
R6618:Rdh14 UTSW 12 10395123 missense probably benign 0.24
Posted On2012-04-20