Incidental Mutation 'R7301:Rtn4ip1'
ID566989
Institutional Source Beutler Lab
Gene Symbol Rtn4ip1
Ensembl Gene ENSMUSG00000019864
Gene Namereticulon 4 interacting protein 1
SynonymsNIMP, D10Ertd690e
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7301 (G1)
Quality Score225.009
Status Not validated
Chromosome10
Chromosomal Location43901807-43957201 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43936020 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 338 (Y338H)
Ref Sequence ENSEMBL: ENSMUSP00000060940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054418] [ENSMUST00000105492]
Predicted Effect probably damaging
Transcript: ENSMUST00000054418
AA Change: Y338H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060940
Gene: ENSMUSG00000019864
AA Change: Y338H

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 damaging
Transcript: ENSMUST00000105492
AA Change: Y114H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101131
Gene: ENSMUSG00000019864
AA Change: Y114H

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,777,085 S345N possibly damaging Het
Agk A T 6: 40,329,517 T7S possibly damaging Het
Ankrd26 T C 6: 118,511,663 E1345G possibly damaging Het
Atp1a3 T A 7: 24,990,515 Y493F probably benign Het
Atxn2l G T 7: 126,494,211 Y791* probably null Het
Cacng8 C A 7: 3,415,421 T363K probably benign Het
Camkmt A G 17: 85,431,493 T216A probably benign Het
Cd2ap G A 17: 42,830,013 R212* probably null Het
Cnppd1 A G 1: 75,136,424 L400P probably damaging Het
Csmd2 C A 4: 128,528,262 D2797E Het
Ddx24 A G 12: 103,419,450 M298T possibly damaging Het
Dpyd T C 3: 118,899,284 V359A possibly damaging Het
Dscam T C 16: 97,056,532 T93A probably benign Het
Eif2b3 T A 4: 117,052,822 S185T probably benign Het
Entpd2 T A 2: 25,400,909 I475N possibly damaging Het
Ercc2 C A 7: 19,394,135 Q715K probably benign Het
Fam122a T A 19: 24,477,124 H78L probably benign Het
Fam122a T A 19: 24,477,346 E4V probably damaging Het
Fam186b T C 15: 99,278,748 R754G probably benign Het
Fcgbp T A 7: 28,093,436 V955E possibly damaging Het
Frrs1 T C 3: 116,895,563 V361A possibly damaging Het
Gabrr2 T A 4: 33,095,284 M391K probably benign Het
Gm12394 T C 4: 42,792,923 N403S possibly damaging Het
Gm3409 T A 5: 146,539,547 D169E probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 101,794,171 probably benign Het
Greb1l C G 18: 10,544,970 Q1433E probably damaging Het
Hal T C 10: 93,492,561 V233A probably benign Het
Ighv1-58 A T 12: 115,312,295 N74K probably benign Het
Il12rb1 A G 8: 70,813,699 I229M possibly damaging Het
Il17rd T C 14: 27,076,391 I56T possibly damaging Het
Itpr1 T C 6: 108,542,024 V2708A possibly damaging Het
Klhl38 G A 15: 58,322,980 R118W probably damaging Het
Lmf2 C A 15: 89,355,530 probably benign Het
Lrrc3b T C 14: 15,357,934 Y224C probably damaging Het
Med1 A C 11: 98,152,808 F599C probably benign Het
Mrgprb4 A G 7: 48,198,758 S141P probably damaging Het
Mst1r G T 9: 107,914,790 A842S possibly damaging Het
Myo3a T C 2: 22,544,466 probably null Het
Nos1 A T 5: 117,867,905 D230V possibly damaging Het
Nppb T C 4: 147,986,323 S52P probably benign Het
Nqo1 A G 8: 107,392,648 I99T probably damaging Het
Olfr346 T A 2: 36,688,011 M3K probably benign Het
Olfr769 T C 10: 129,111,699 H242R probably damaging Het
Pcdha3 G A 18: 36,946,924 E240K possibly damaging Het
Plpp7 T G 2: 32,096,055 F82V probably benign Het
Podxl G T 6: 31,524,436 P395T probably damaging Het
Prr5l T A 2: 101,717,286 D298V probably damaging Het
Rad9b A G 5: 122,352,614 V13A possibly damaging Het
Rasl2-9 A G 7: 5,125,740 W64R probably damaging Het
Rilp G T 11: 75,510,116 probably benign Het
Ripor2 T C 13: 24,725,001 I1034T possibly damaging Het
Shisa5 G T 9: 109,054,884 probably benign Het
Slc27a4 C T 2: 29,812,932 T591I probably null Het
Snx24 G T 18: 53,340,172 V63F probably damaging Het
Sptbn1 A T 11: 30,117,798 Y1805* probably null Het
Svep1 G A 4: 58,046,587 Q3515* probably null Het
Synpo2 A C 3: 123,114,053 M538R probably benign Het
Tfap2a T C 13: 40,721,308 K276E probably damaging Het
Tmem158 C A 9: 123,260,301 S82I probably damaging Het
Tmtc3 G T 10: 100,447,474 H740N not run Het
Top3a A T 11: 60,748,148 F559I probably damaging Het
Tysnd1 C A 10: 61,696,549 P327T possibly damaging Het
Ulk4 T A 9: 121,145,059 D969V probably benign Het
Vcan T A 13: 89,705,266 Y525F probably benign Het
Vmn1r127 A G 7: 21,319,053 F270S probably benign Het
Vmn1r204 G A 13: 22,556,805 S202N probably damaging Het
Vmn2r107 A G 17: 20,345,616 I64M probably benign Het
Zfp280b C G 10: 76,038,703 Q139E probably damaging Het
Zfp322a C A 13: 23,357,143 G143V probably damaging Het
Zfp322a C T 13: 23,357,144 G143S probably benign Het
Zfyve26 A T 12: 79,282,984 V476D probably benign Het
Zkscan6 A T 11: 65,828,225 H357L probably benign Het
Other mutations in Rtn4ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Rtn4ip1 APN 10 43928326 start codon destroyed probably null
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
Predicted Primers PCR Primer
(F):5'- TGGGCACGCAATCACACATC -3'
(R):5'- CTGTGCACACTGAGCAGTTAC -3'

Sequencing Primer
(F):5'- TCACACATCAGCATGAAATGGG -3'
(R):5'- TGAGCAGTTACGAACCCCATGG -3'
Posted On2019-06-26