Mutagenetix > Incidental Mutation

Incidental Mutation 'R4478:S2bpcox16'

331373

Institutional Source

Beutler Lab

Gene Symbol

S2bpcox16

Ensembl Gene

ENSMUSG00000021139

Gene Name

synaptojanin 2 binding protein Cox16 readthrough

Synonyms

Gm20498

MMRRC Submission

041735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4478 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81405634-81579679 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 81535990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002757] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166664] [ENSMUST00000166723] [ENSMUST00000171459] [ENSMUST00000169124] [ENSMUST00000168463]

AlphaFold

Q9D6K5

Predicted Effect

probably benign
Transcript: ENSMUST00000002757

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	88	1.8e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110339

SMART Domains

Protein: ENSMUSP00000105968
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163282

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166664

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170958

Predicted Effect

probably benign
Transcript: ENSMUST00000171459

Predicted Effect

probably benign
Transcript: ENSMUST00000169124

SMART Domains

Protein: ENSMUSP00000128281
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	69	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168463

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	78	2e-16	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

94% (46/49)

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Synj2bp (synaptojanin 2 binding protein) and Cox16 (cytochrome c oxidase assembly protein 16) genes on chromosome 12. The readthrough transcripts encode fusion proteins that share sequence similarity with each individual gene product. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2015]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,185,171 (GRCm39)	D509G	probably benign	Het
Ank1	C	T	8: 23,610,594 (GRCm39)	T1379I	probably benign	Het
Ap1m2	A	G	9: 21,209,509 (GRCm39)	V389A	probably benign	Het
Cdh15	A	G	8: 123,591,415 (GRCm39)	H517R	probably benign	Het
Chd9	T	C	8: 91,760,659 (GRCm39)		probably benign	Het
Chp2	A	G	7: 121,820,141 (GRCm39)	D97G	probably benign	Het
Cpne5	T	C	17: 29,428,450 (GRCm39)	T118A	probably damaging	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dag1	G	C	9: 108,085,929 (GRCm39)	T404R	probably damaging	Het
Dnah3	T	G	7: 119,671,086 (GRCm39)	H599P	probably benign	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Fabp9	T	C	3: 10,262,166 (GRCm39)	Y30C	probably damaging	Het
Fnbp1	G	A	2: 30,995,266 (GRCm39)	A56V	probably damaging	Het
Hid1	G	A	11: 115,252,481 (GRCm39)	A67V	probably damaging	Het
Il6ra	T	A	3: 89,797,597 (GRCm39)	Y90F	probably damaging	Het
Kcnk18	T	C	19: 59,223,676 (GRCm39)	S274P	probably damaging	Het
Kndc1	A	T	7: 139,500,600 (GRCm39)	D655V	probably damaging	Het
Lrrk2	G	A	15: 91,607,391 (GRCm39)	A585T	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo9b	A	T	8: 71,743,725 (GRCm39)	K262M	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10aa1	C	T	1: 173,870,182 (GRCm39)	T222I	probably benign	Het
Or6c6b	C	T	10: 129,147,645 (GRCm39)	L90F	possibly damaging	Het
Or8h10	G	T	2: 86,808,562 (GRCm39)	R193S	probably benign	Het
Plxna4	A	T	6: 32,173,068 (GRCm39)	C1288S	possibly damaging	Het
Ptpn22	T	C	3: 103,809,380 (GRCm39)		probably benign	Het
Rab11fip3	C	T	17: 26,235,057 (GRCm39)	E619K	probably damaging	Het
Robo2	C	A	16: 73,812,761 (GRCm39)	R311L	probably damaging	Het
Sdad1	A	G	5: 92,445,019 (GRCm39)	M315T	probably damaging	Het
Slc39a12	T	A	2: 14,424,990 (GRCm39)	L407*	probably null	Het
Snap29	T	C	16: 17,246,019 (GRCm39)	V213A	probably benign	Het
Spef1l	A	T	7: 139,555,773 (GRCm39)		probably null	Het
Stard7	T	A	2: 127,126,179 (GRCm39)	L77Q	probably damaging	Het
Stat5b	A	G	11: 100,678,110 (GRCm39)	Y668H	probably benign	Het
Tgfb2	A	G	1: 186,364,696 (GRCm39)	I266T	probably damaging	Het
Tmem87a	C	T	2: 120,199,824 (GRCm39)	W440*	probably null	Het
Tnr	T	A	1: 159,712,326 (GRCm39)		probably null	Het
Ubl3	C	T	5: 148,448,787 (GRCm39)	S18N	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vmn2r9	T	C	5: 108,994,143 (GRCm39)	E502G	probably benign	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Vwa8	T	A	14: 79,106,241 (GRCm39)	D61E	probably benign	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp1	A	G	8: 112,397,175 (GRCm39)	R366G	probably damaging	Het
Zfp282	A	T	6: 47,867,630 (GRCm39)	R269*	probably null	Het

Other mutations in S2bpcox16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:S2bpcox16	APN	12	81,557,664 (GRCm39)	missense	probably damaging	1.00
IGL02562:S2bpcox16	APN	12	81,557,616 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTACCCCAAGTCATCTTGCTG -3'
(R):5'- TTATCCTATAGCTCACACCCCATAG -3'

Sequencing Primer
(F):5'- CTTCCAGGTCATACTGAAACTGAGG -3'
(R):5'- CCCCATAGAAAACAGGATGGTACTG -3'

Posted On

2015-07-21