Incidental Mutation 'IGL01670:Rtn4ip1'
ID103443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtn4ip1
Ensembl Gene ENSMUSG00000019864
Gene Namereticulon 4 interacting protein 1
SynonymsNIMP, D10Ertd690e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01670
Quality Score
Status
Chromosome10
Chromosomal Location43901807-43957201 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 43928326 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000101131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054418] [ENSMUST00000105492]
Predicted Effect probably benign
Transcript: ENSMUST00000054418
AA Change: M225V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060940
Gene: ENSMUSG00000019864
AA Change: M225V

DomainStartEndE-ValueType
Pfam:ADH_N 71 168 5.8e-11 PFAM
Pfam:ADH_zinc_N 216 324 1.5e-16 PFAM
Pfam:ADH_zinc_N_2 247 393 1.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105492
AA Change: M1V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101131
Gene: ENSMUSG00000019864
AA Change: M1V

DomainStartEndE-ValueType
Pfam:ADH_zinc_N 1 109 6.7e-12 PFAM
Pfam:ADH_zinc_N_2 23 169 4.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, mental retardation, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Myl12a T C 17: 70,996,853 T10A probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nkx6-1 T A 5: 101,661,940 Q247L probably benign Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Olfr558 A T 7: 102,709,565 Q102L probably damaging Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc5a11 G A 7: 123,269,949 A587T probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tcf20 T C 15: 82,855,363 N629S possibly damaging Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Rtn4ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0005:Rtn4ip1 UTSW 10 43932478 missense probably benign 0.02
R0049:Rtn4ip1 UTSW 10 43921434 missense probably null 1.00
R0049:Rtn4ip1 UTSW 10 43921434 missense probably null 1.00
R1253:Rtn4ip1 UTSW 10 43910871 missense probably benign
R1756:Rtn4ip1 UTSW 10 43910830 missense probably damaging 1.00
R2104:Rtn4ip1 UTSW 10 43932406 missense probably benign 0.07
R2119:Rtn4ip1 UTSW 10 43935997 critical splice acceptor site probably null
R3950:Rtn4ip1 UTSW 10 43909897 splice site probably null
R3951:Rtn4ip1 UTSW 10 43909897 splice site probably null
R3952:Rtn4ip1 UTSW 10 43909897 splice site probably null
R5283:Rtn4ip1 UTSW 10 43902465 missense probably damaging 0.99
R5345:Rtn4ip1 UTSW 10 43932470 missense probably damaging 1.00
R5503:Rtn4ip1 UTSW 10 43907883 missense probably benign
R7299:Rtn4ip1 UTSW 10 43936020 missense probably damaging 0.96
R7301:Rtn4ip1 UTSW 10 43936020 missense probably damaging 0.96
Posted On2014-01-21