Mutagenetix > Incidental Mutation

Incidental Mutation 'R7741:Snx31'

596573

Institutional Source

Beutler Lab

Gene Symbol

Snx31

Ensembl Gene

ENSMUSG00000013611

Gene Name

sorting nexin 31

Synonyms

4631426E05Rik

MMRRC Submission

045797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7741 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36504062-36555573 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 36523441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124063 (fasta)

Gene Model

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

AlphaFold

Q6P8Y7

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,454,717 (GRCm38)	P118S	probably damaging	Het
Adgrl1	T	A	8: 83,929,714 (GRCm38)	D215E	probably damaging	Het
Afap1l2	T	C	19: 56,914,482 (GRCm38)	D755G	probably damaging	Het
Akr1c18	T	A	13: 4,144,333 (GRCm38)	D109V	possibly damaging	Het
Brdt	G	A	5: 107,358,886 (GRCm38)	R445H	probably benign	Het
Capn2	C	A	1: 182,479,723 (GRCm38)	E517*	probably null	Het
Ccdc189	C	A	7: 127,587,987 (GRCm38)	V35L	probably benign	Het
Celsr1	A	T	15: 85,979,102 (GRCm38)	V1243E	possibly damaging	Het
Cenpe	C	G	3: 135,247,335 (GRCm38)		probably null	Het
Cep135	A	G	5: 76,630,970 (GRCm38)	E748G	probably damaging	Het
Cfap57	C	T	4: 118,614,931 (GRCm38)	V84I	probably benign	Het
Col6a1	C	A	10: 76,709,909 (GRCm38)	A910S	unknown	Het
Cyp4a14	T	A	4: 115,489,959 (GRCm38)		probably null	Het
Dot1l	C	T	10: 80,783,544 (GRCm38)	R412W	probably damaging	Het
Dyrk2	T	C	10: 118,859,689 (GRCm38)	T555A	probably benign	Het
Foxn3	T	C	12: 99,196,328 (GRCm38)	N438S	probably damaging	Het
Gdpd5	T	C	7: 99,453,794 (GRCm38)	F320S	probably damaging	Het
Grn	A	G	11: 102,435,734 (GRCm38)	H413R	probably damaging	Het
Gstm7	A	T	3: 107,931,647 (GRCm38)	M3K	possibly damaging	Het
Il17rd	A	G	14: 27,100,336 (GRCm38)	E673G	probably damaging	Het
Klhl29	T	C	12: 5,137,500 (GRCm38)	D288G	possibly damaging	Het
Klk11	G	A	7: 43,776,997 (GRCm38)	A79T	probably benign	Het
Kmt2a	A	G	9: 44,808,062 (GRCm38)	V3914A	unknown	Het
Map2k2	T	C	10: 81,121,043 (GRCm38)	V307A	probably benign	Het
Mgea5	A	T	19: 45,776,062 (GRCm38)	L213H	probably damaging	Het
Mst1r	G	T	9: 107,907,120 (GRCm38)		probably benign	Het
Nr3c2	A	G	8: 77,210,646 (GRCm38)	E834G	probably damaging	Het
Ogfod3	T	G	11: 121,183,536 (GRCm38)		probably null	Het
Olfr1454	A	T	19: 13,064,059 (GRCm38)	Y216F	probably damaging	Het
Olfr924	T	C	9: 38,848,318 (GRCm38)	L68P	probably damaging	Het
Plscr4	A	T	9: 92,482,640 (GRCm38)		probably null	Het
Pou2f1	A	G	1: 165,875,875 (GRCm38)	S749P	probably damaging	Het
Ppp4r3b	T	G	11: 29,205,701 (GRCm38)	L556V	possibly damaging	Het
Psd4	T	G	2: 24,401,096 (GRCm38)		probably null	Het
Rbbp4	T	C	4: 129,334,563 (GRCm38)	D33G	probably damaging	Het
Rif1	T	A	2: 52,085,141 (GRCm38)	M354K	probably damaging	Het
Rmi1	A	G	13: 58,409,253 (GRCm38)	K439E	probably benign	Het
Scgb2b7	A	G	7: 31,705,029 (GRCm38)		probably null	Het
Sdc1	A	G	12: 8,791,370 (GRCm38)	D237G	probably benign	Het
Sel1l3	T	C	5: 53,200,251 (GRCm38)	Y133C	probably damaging	Het
Snx7	A	G	3: 117,838,839 (GRCm38)	F201S	probably damaging	Het
Tas2r131	C	T	6: 132,957,475 (GRCm38)	V124I	possibly damaging	Het
Tbx20	A	T	9: 24,740,285 (GRCm38)		probably null	Het
Topbp1	A	T	9: 103,320,557 (GRCm38)	N445I	probably damaging	Het
Tpx2	T	A	2: 152,867,343 (GRCm38)	I31K	possibly damaging	Het
Trpv3	T	A	11: 73,288,262 (GRCm38)	V499E	probably damaging	Het
Tshr	G	A	12: 91,533,969 (GRCm38)	W258*	probably null	Het
Usp32	G	T	11: 84,987,281 (GRCm38)	D1543E	probably damaging	Het
Usp39	A	G	6: 72,338,538 (GRCm38)		probably benign	Het
Vac14	T	C	8: 110,634,388 (GRCm38)	S197P	probably damaging	Het
Vars2	A	G	17: 35,660,943 (GRCm38)	S497P	probably damaging	Het
Zfp462	C	A	4: 55,008,637 (GRCm38)	P201Q	probably benign	Het
Zkscan5	A	G	5: 145,221,037 (GRCm38)	Q783R	possibly damaging	Het

Other mutations in Snx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Snx31	APN	15	36,545,616 (GRCm38)	critical splice acceptor site	probably null
IGL01627:Snx31	APN	15	36,517,672 (GRCm38)	missense	probably damaging	1.00
IGL02514:Snx31	APN	15	36,525,582 (GRCm38)	missense	probably damaging	1.00
IGL03069:Snx31	APN	15	36,525,603 (GRCm38)	nonsense	probably null
IGL03182:Snx31	APN	15	36,525,687 (GRCm38)	missense	probably benign	0.00
R0755:Snx31	UTSW	15	36,534,430 (GRCm38)	missense	probably damaging	0.99
R1005:Snx31	UTSW	15	36,517,691 (GRCm38)	splice site	probably benign
R1463:Snx31	UTSW	15	36,539,298 (GRCm38)	missense	probably null	1.00
R1513:Snx31	UTSW	15	36,545,600 (GRCm38)	missense	probably damaging	0.99
R2030:Snx31	UTSW	15	36,525,702 (GRCm38)	missense	probably benign	0.31
R3404:Snx31	UTSW	15	36,525,653 (GRCm38)	missense	probably benign	0.00
R3720:Snx31	UTSW	15	36,523,558 (GRCm38)	critical splice acceptor site	probably null
R4152:Snx31	UTSW	15	36,525,639 (GRCm38)	missense	probably benign
R4474:Snx31	UTSW	15	36,546,111 (GRCm38)	intron	probably benign
R4729:Snx31	UTSW	15	36,523,552 (GRCm38)	missense	possibly damaging	0.92
R4998:Snx31	UTSW	15	36,539,367 (GRCm38)	missense	probably damaging	0.96
R5010:Snx31	UTSW	15	36,555,324 (GRCm38)	missense	probably damaging	1.00
R5375:Snx31	UTSW	15	36,525,584 (GRCm38)	missense	probably damaging	0.99
R5893:Snx31	UTSW	15	36,523,455 (GRCm38)	missense	probably damaging	0.98
R5970:Snx31	UTSW	15	36,523,488 (GRCm38)	nonsense	probably null
R6211:Snx31	UTSW	15	36,546,885 (GRCm38)	missense	probably damaging	0.98
R7198:Snx31	UTSW	15	36,555,310 (GRCm38)	missense	probably benign	0.04
R7293:Snx31	UTSW	15	36,523,450 (GRCm38)	missense	probably damaging	0.97
R7329:Snx31	UTSW	15	36,555,476 (GRCm38)	missense	probably benign	0.00
R8057:Snx31	UTSW	15	36,523,460 (GRCm38)	missense	probably damaging	0.98
R8791:Snx31	UTSW	15	36,537,532 (GRCm38)	missense	probably benign	0.01
R8806:Snx31	UTSW	15	36,537,552 (GRCm38)	missense	probably damaging	1.00
R9349:Snx31	UTSW	15	36,555,285 (GRCm38)	missense	probably damaging	1.00
R9655:Snx31	UTSW	15	36,534,436 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAATTATGACCATGGTGACCAAG -3'
(R):5'- AACTTTGCCCCTCTGGATGG -3'

Sequencing Primer
(F):5'- CCATGGTGACCAAGAAAATAAAGC -3'
(R):5'- TGCTGAGTTACTGCCACG -3'

Posted On

2019-11-26