Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Rtn4ip1'

422565

Institutional Source

Beutler Lab

Gene Symbol

Rtn4ip1

Ensembl Gene

ENSMUSG00000019864

Gene Name

reticulon 4 interacting protein 1

Synonyms

NIMP, D10Ertd690e

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43777772-43823860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43808466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 81 (L81P)

Ref Sequence

ENSEMBL: ENSMUSP00000101131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054418] [ENSMUST00000105492]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000054418
AA Change: L305P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060940
Gene: ENSMUSG00000019864
AA Change: L305P

Domain	Start	End	E-Value	Type
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: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101131
Gene: ENSMUSG00000019864
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:ADH_zinc_N	1	109	6.7e-12	PFAM
Pfam:ADH_zinc_N_2	23	169	4.1e-27	PFAM

Meta Mutation Damage Score

0.6419

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Park7	A	G	4: 150,992,880 (GRCm39)		probably benign	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	Het

Other mutations in Rtn4ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Rtn4ip1	APN	10	43,804,322 (GRCm39)	start codon destroyed	probably null
R0005:Rtn4ip1	UTSW	10	43,808,474 (GRCm39)	missense	probably benign	0.02
R0049:Rtn4ip1	UTSW	10	43,797,430 (GRCm39)	missense	probably null	1.00
R0049:Rtn4ip1	UTSW	10	43,797,430 (GRCm39)	missense	probably null	1.00
R1253:Rtn4ip1	UTSW	10	43,786,867 (GRCm39)	missense	probably benign
R1756:Rtn4ip1	UTSW	10	43,786,826 (GRCm39)	missense	probably damaging	1.00
R2104:Rtn4ip1	UTSW	10	43,808,402 (GRCm39)	missense	probably benign	0.07
R2119:Rtn4ip1	UTSW	10	43,811,993 (GRCm39)	critical splice acceptor site	probably null
R3950:Rtn4ip1	UTSW	10	43,785,893 (GRCm39)	splice site	probably null
R3951:Rtn4ip1	UTSW	10	43,785,893 (GRCm39)	splice site	probably null
R3952:Rtn4ip1	UTSW	10	43,785,893 (GRCm39)	splice site	probably null
R5283:Rtn4ip1	UTSW	10	43,778,461 (GRCm39)	missense	probably damaging	0.99
R5503:Rtn4ip1	UTSW	10	43,783,879 (GRCm39)	missense	probably benign
R7299:Rtn4ip1	UTSW	10	43,812,016 (GRCm39)	missense	probably damaging	0.96
R7301:Rtn4ip1	UTSW	10	43,812,016 (GRCm39)	missense	probably damaging	0.96
R8506:Rtn4ip1	UTSW	10	43,804,352 (GRCm39)	missense	probably benign	0.01
R8803:Rtn4ip1	UTSW	10	43,783,842 (GRCm39)	missense	probably damaging	1.00
R8962:Rtn4ip1	UTSW	10	43,822,415 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCACTTGCTTATGGTGTACGTG -3'
(R):5'- TAGGCTGGCTCCAAGAGTAGAG -3'

Sequencing Primer
(F):5'- AGCAGATGGGCCTTCTCCTC -3'
(R):5'- CTCCAAGAGTAGAGAAAGTGGCC -3'

Posted On

2016-08-04