Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Snx31'

470822

Institutional Source

Beutler Lab

Gene Symbol

Snx31

Ensembl Gene

ENSMUSG00000013611

Gene Name

sorting nexin 31

Synonyms

4631426E05Rik

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36504062-36555573 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36523488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 349 (Y349*)

Ref Sequence

ENSEMBL: ENSMUSP00000124063 (fasta)

Gene Model

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

AlphaFold

Q6P8Y7

Predicted Effect

probably null
Transcript: ENSMUST00000013755
AA Change: Y349*

SMART Domains

Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
AA Change: Y349*

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
AA Change: Y349*

SMART Domains

Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
AA Change: Y349*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046		probably benign	Het
Ambn	T	C	5: 88,467,951	V413A	possibly damaging	Het
Amotl1	T	A	9: 14,596,528	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847	I104F	unknown	Het
Cry2	A	G	2: 92,412,967	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352		probably null	Het
Heatr6	G	A	11: 83,753,718		probably benign	Het
Kcns2	A	G	15: 34,839,784	D431G	probably benign	Het
Kdm3b	A	G	18: 34,829,289	N1543D	probably damaging	Het
Man2a1	A	G	17: 64,625,380	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773	L402Q	probably damaging	Het
Pigp	T	A	16: 94,370,194		probably null	Het
Rp1	A	G	1: 4,348,462	L809P	probably benign	Het
Scn3a	T	A	2: 65,494,781		probably benign	Het
Sdf2	A	T	11: 78,246,080	M29L	probably benign	Het
Serpina3b	T	G	12: 104,134,091	L311V	possibly damaging	Het
Spidr	A	C	16: 16,114,869	C182W	probably damaging	Het
St13	A	T	15: 81,377,798	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016		probably null	Het
Tcp11l2	T	A	10: 84,594,797		probably benign	Het
Tfdp2	C	T	9: 96,317,574	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366	P72T	probably benign	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
R3720:Snx31	UTSW	15	36523558	critical splice acceptor site	probably null
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
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
R8791:Snx31	UTSW	15	36537532	missense	probably benign	0.01
R8806:Snx31	UTSW	15	36537552	missense	probably damaging	1.00
R9349:Snx31	UTSW	15	36555285	missense	probably damaging	1.00
R9655:Snx31	UTSW	15	36534436	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2017-03-31