Mutagenetix > Incidental Mutations

Incidental Mutation 'R3720:Snx31'

258871

Institutional Source

Beutler Lab

Gene Symbol

Snx31

Ensembl Gene

ENSMUSG00000013611

Gene Name

sorting nexin 31

Synonyms

4631426E05Rik

MMRRC Submission

040711-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3720 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

36504062-36555573 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 36523558 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013755] [ENSMUST00000161202]

Predicted Effect

probably null
Transcript: ENSMUST00000013755

SMART Domains

Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611

Domain	Start	End	E-Value	Type
PX	1	105	5.44e-9	SMART
PDB:4GXB\|A	112	382	1e-64	PDB
Blast:B41	115	324	1e-49	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000161202

SMART Domains

Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611

Domain	Start	End	E-Value	Type
PX	1	105	5.44e-9	SMART
PDB:4GXB\|A	112	382	1e-64	PDB
Blast:B41	115	324	1e-49	BLAST

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl1	G	A	14: 26,927,844	T575M	probably damaging	Het
Atp2c1	A	T	9: 105,422,976	M708K	probably damaging	Het
C9	A	G	15: 6,483,119	T241A	possibly damaging	Het
Ccrl2	T	C	9: 111,056,364	D22G	probably benign	Het
Cd47	A	G	16: 49,867,842	I42V	probably benign	Het
Cntnap5c	T	C	17: 58,330,202	S1025P	probably benign	Het
Col8a1	T	C	16: 57,626,916	M744V	unknown	Het
Cstf3	A	G	2: 104,653,086		probably benign	Het
Dnah8	G	A	17: 30,854,898	R4514H	probably damaging	Het
Dnaic1	G	A	4: 41,602,615	R113H	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Glt6d1	ACCC	ACCCC	2: 25,795,167		probably null	Het
Gm10717	A	G	9: 3,025,532	Y39C	probably benign	Het
Hivep1	C	T	13: 42,158,601	T1439I	probably benign	Het
Iqgap2	T	C	13: 95,668,528		probably null	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kif1c	T	C	11: 70,703,771	F86L	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Ldb1	C	T	19: 46,044,892		probably benign	Het
Lrmda	T	A	14: 22,027,331		probably benign	Het
Med23	T	C	10: 24,891,120	L369S	probably damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Myo1b	G	T	1: 51,776,346	H614N	possibly damaging	Het
Neurl1b	C	T	17: 26,414,975	T4M	probably damaging	Het
Olfr1095	T	C	2: 86,851,591	T36A	probably benign	Het
Olfr129	T	C	17: 38,055,368	Y66C	probably damaging	Het
Polg	G	A	7: 79,456,791	Q163*	probably null	Het
Pramef8	A	G	4: 143,419,379	T473A	probably benign	Het
Sdk2	G	A	11: 113,800,244	P1835L	probably damaging	Het
Slc35a5	A	T	16: 45,147,322	I138N	probably damaging	Het
Speg	A	T	1: 75,426,782	H2590L	probably damaging	Het
Spink4	T	A	4: 40,929,136	C54S	probably damaging	Het
Swap70	A	G	7: 110,270,047	E349G	probably damaging	Het
Sybu	A	G	15: 44,672,632	V766A	possibly damaging	Het
Tns3	G	A	11: 8,492,999	R455W	probably damaging	Het
Tnxb	T	A	17: 34,712,964	V2157E	possibly damaging	Het
Trak2	A	T	1: 58,946,245		probably null	Het
Trav18	C	T	14: 53,831,617	R39C	possibly damaging	Het
Uroc1	G	A	6: 90,346,355	V352M	probably damaging	Het
Zfp106	A	C	2: 120,534,599	I442M	probably benign	Het
Zfp935	G	A	13: 62,455,032	Q98*	probably null	Het

Other mutations in Snx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Snx31	APN	15	36545616	critical splice acceptor site	probably null
IGL01627:Snx31	APN	15	36517672	missense	probably damaging	1.00
IGL02514:Snx31	APN	15	36525582	missense	probably damaging	1.00
IGL03069:Snx31	APN	15	36525603	nonsense	probably null
IGL03182:Snx31	APN	15	36525687	missense	probably benign	0.00
R0755:Snx31	UTSW	15	36534430	missense	probably damaging	0.99
R1005:Snx31	UTSW	15	36517691	splice site	probably benign
R1463:Snx31	UTSW	15	36539298	missense	probably null	1.00
R1513:Snx31	UTSW	15	36545600	missense	probably damaging	0.99
R2030:Snx31	UTSW	15	36525702	missense	probably benign	0.31
R3404:Snx31	UTSW	15	36525653	missense	probably benign	0.00
R4152:Snx31	UTSW	15	36525639	missense	probably benign
R4474:Snx31	UTSW	15	36546111	intron	probably benign
R4729:Snx31	UTSW	15	36523552	missense	possibly damaging	0.92
R4998:Snx31	UTSW	15	36539367	missense	probably damaging	0.96
R5010:Snx31	UTSW	15	36555324	missense	probably damaging	1.00
R5375:Snx31	UTSW	15	36525584	missense	probably damaging	0.99
R5893:Snx31	UTSW	15	36523455	missense	probably damaging	0.98
R5970:Snx31	UTSW	15	36523488	nonsense	probably null
R6211:Snx31	UTSW	15	36546885	missense	probably damaging	0.98
R7198:Snx31	UTSW	15	36555310	missense	probably benign	0.04
R7293:Snx31	UTSW	15	36523450	missense	probably damaging	0.97
R7329:Snx31	UTSW	15	36555476	missense	probably benign	0.00
R7741:Snx31	UTSW	15	36523441	critical splice donor site	probably null
R8057:Snx31	UTSW	15	36523460	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTACTGTGTTCTGTTCCCATCAG -3'
(R):5'- GGTGGGACCAACTCTTAACAC -3'

Sequencing Primer
(F):5'- GTTCCCATCAGCCCGCAAG -3'
(R):5'- GTGGCCCCAAATTTGATGAAC -3'

Posted On

2015-01-23