Mutagenetix > Incidental Mutation

Incidental Mutation 'R5375:Snx31'

429037

Institutional Source

Beutler Lab

Gene Symbol

Snx31

Ensembl Gene

ENSMUSG00000013611

Gene Name

sorting nexin 31

Synonyms

4631426E05Rik

MMRRC Submission

042951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36504208-36555718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36525730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 323 (V323A)

Ref Sequence

ENSEMBL: ENSMUSP00000124063 (fasta)

Gene Model

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

AlphaFold

Q6P8Y7

Predicted Effect

probably damaging
Transcript: ENSMUST00000013755
AA Change: V323A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
AA Change: V323A

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 damaging
Transcript: ENSMUST00000161202
AA Change: V323A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
AA Change: V323A

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	T	A	12: 4,260,870 (GRCm39)	N995K	probably damaging	Het
Aldh4a1	T	C	4: 139,361,233 (GRCm39)	M60T	probably benign	Het
Alpk2	A	T	18: 65,505,809 (GRCm39)	H70Q	probably damaging	Het
Babam2	T	A	5: 31,859,207 (GRCm39)	I5N	possibly damaging	Het
Blm	T	C	7: 80,162,977 (GRCm39)	T125A	probably benign	Het
Bloc1s1	T	C	10: 128,759,826 (GRCm39)		probably benign	Het
Calcr	G	T	6: 3,714,651 (GRCm39)	Q160K	probably benign	Het
Ccdc43	C	T	11: 102,581,058 (GRCm39)	A131T	probably damaging	Het
Cdh15	A	T	8: 123,591,839 (GRCm39)	N575Y	probably damaging	Het
Chd8	T	C	14: 52,441,611 (GRCm39)	D827G	probably damaging	Het
Col3a1	A	G	1: 45,387,059 (GRCm39)		probably null	Het
Creb5	A	T	6: 53,658,002 (GRCm39)	M255L	possibly damaging	Het
Cst8	A	G	2: 148,646,503 (GRCm39)	I78V	probably benign	Het
Cyld	A	G	8: 89,459,664 (GRCm39)	E440G	possibly damaging	Het
Cyp2b9	A	C	7: 25,887,167 (GRCm39)	D192A	probably damaging	Het
Dclre1b	C	T	3: 103,711,290 (GRCm39)	R207H	probably damaging	Het
Dnah6	A	T	6: 73,100,838 (GRCm39)	F1936L	probably damaging	Het
Dpp9	A	C	17: 56,496,424 (GRCm39)	Y761*	probably null	Het
Drc1	A	T	5: 30,513,745 (GRCm39)	M434L	probably benign	Het
Dtx3l	A	T	16: 35,753,397 (GRCm39)	I403N	probably damaging	Het
Ecpas	T	A	4: 58,809,401 (GRCm39)	K1658*	probably null	Het
Efcab9	A	G	11: 32,477,484 (GRCm39)	Y13H	probably damaging	Het
Efhb	T	A	17: 53,708,654 (GRCm39)	N672I	possibly damaging	Het
Eif5b	T	C	1: 38,084,835 (GRCm39)	V894A	possibly damaging	Het
Elovl3	T	C	19: 46,123,135 (GRCm39)	F237S	probably benign	Het
Emc1	T	A	4: 139,093,802 (GRCm39)	D637E	probably damaging	Het
Erbb2	C	A	11: 98,324,238 (GRCm39)	P742Q	probably damaging	Het
Fam234b	C	A	6: 135,210,355 (GRCm39)	L584M	probably damaging	Het
Fancd2	A	T	6: 113,545,673 (GRCm39)	D14V	possibly damaging	Het
Fat2	T	C	11: 55,153,646 (GRCm39)	H3522R	probably benign	Het
Fgfr2	T	C	7: 129,842,945 (GRCm39)	N147D	possibly damaging	Het
Gm26657	A	G	4: 56,741,180 (GRCm39)		probably benign	Het
Hcrtr1	C	T	4: 130,029,518 (GRCm39)	V188M	probably benign	Het
Herc1	T	C	9: 66,375,169 (GRCm39)	V3331A	probably damaging	Het
Hmcn2	T	C	2: 31,320,453 (GRCm39)	V3978A	possibly damaging	Het
Invs	G	A	4: 48,385,262 (GRCm39)	R202K	probably benign	Het
Lgr5	C	T	10: 115,314,469 (GRCm39)	S156N	probably benign	Het
Mras	T	G	9: 99,276,669 (GRCm39)	D67A	probably damaging	Het
Mrpl39	A	G	16: 84,520,790 (GRCm39)	L283P	probably damaging	Het
Ncoa6	A	T	2: 155,275,915 (GRCm39)	I110N	probably benign	Het
Neb	T	C	2: 52,102,596 (GRCm39)	D544G	possibly damaging	Het
Nlrc3	A	G	16: 3,782,617 (GRCm39)	I264T	possibly damaging	Het
Or10a2	T	A	7: 106,673,080 (GRCm39)	M15K	probably benign	Het
Or1j13	A	G	2: 36,369,309 (GRCm39)	Y278H	probably damaging	Het
Or5k16	T	C	16: 58,736,248 (GRCm39)	Y252C	possibly damaging	Het
Or7g18	A	G	9: 18,787,442 (GRCm39)	K273R	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phf11d	T	C	14: 59,590,120 (GRCm39)	D234G	probably null	Het
Polq	A	T	16: 36,903,146 (GRCm39)	D1980V	probably damaging	Het
Rasa1	A	T	13: 85,437,022 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23a	A	G	12: 59,053,791 (GRCm39)	V69A	probably benign	Het
Sipa1	A	G	19: 5,709,640 (GRCm39)	I260T	probably damaging	Het
Smarcc1	T	A	9: 110,020,017 (GRCm39)	L628H	probably damaging	Het
Sun2	A	G	15: 79,611,723 (GRCm39)	S565P	probably damaging	Het
Tmem74	C	T	15: 43,730,564 (GRCm39)	D160N	possibly damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Trp53inp1	A	G	4: 11,165,305 (GRCm39)	T110A	probably benign	Het
Ttll9	G	T	2: 152,826,144 (GRCm39)	C118F	probably benign	Het
Vps4b	A	G	1: 106,719,422 (GRCm39)	L42P	probably benign	Het
Xirp2	A	T	2: 67,342,250 (GRCm39)	N1497I	probably damaging	Het
Xpo4	A	G	14: 57,875,764 (GRCm39)	V123A	probably damaging	Het
Zfhx4	A	T	3: 5,477,485 (GRCm39)	T3367S	probably damaging	Het
Zfp236	T	C	18: 82,615,813 (GRCm39)	E1782G	possibly damaging	Het
Zfp35	T	A	18: 24,135,973 (GRCm39)	C106S	possibly damaging	Het
Zfpm1	A	G	8: 123,062,812 (GRCm39)	T624A	probably benign	Het
Zmiz2	C	T	11: 6,347,519 (GRCm39)	Q276*	probably null	Het

Other mutations in Snx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Snx31	APN	15	36,545,761 (GRCm39)	critical splice acceptor site	probably null
IGL01627:Snx31	APN	15	36,517,818 (GRCm39)	missense	probably damaging	1.00
IGL02514:Snx31	APN	15	36,525,728 (GRCm39)	missense	probably damaging	1.00
IGL03069:Snx31	APN	15	36,525,749 (GRCm39)	nonsense	probably null
IGL03182:Snx31	APN	15	36,525,833 (GRCm39)	missense	probably benign	0.00
R0755:Snx31	UTSW	15	36,534,576 (GRCm39)	missense	probably damaging	0.99
R1005:Snx31	UTSW	15	36,517,837 (GRCm39)	splice site	probably benign
R1463:Snx31	UTSW	15	36,539,444 (GRCm39)	missense	probably null	1.00
R1513:Snx31	UTSW	15	36,545,745 (GRCm39)	missense	probably damaging	0.99
R2030:Snx31	UTSW	15	36,525,848 (GRCm39)	missense	probably benign	0.31
R3404:Snx31	UTSW	15	36,525,799 (GRCm39)	missense	probably benign	0.00
R3720:Snx31	UTSW	15	36,523,704 (GRCm39)	critical splice acceptor site	probably null
R4152:Snx31	UTSW	15	36,525,785 (GRCm39)	missense	probably benign
R4474:Snx31	UTSW	15	36,546,256 (GRCm39)	intron	probably benign
R4729:Snx31	UTSW	15	36,523,698 (GRCm39)	missense	possibly damaging	0.92
R4998:Snx31	UTSW	15	36,539,513 (GRCm39)	missense	probably damaging	0.96
R5010:Snx31	UTSW	15	36,555,469 (GRCm39)	missense	probably damaging	1.00
R5893:Snx31	UTSW	15	36,523,601 (GRCm39)	missense	probably damaging	0.98
R5970:Snx31	UTSW	15	36,523,634 (GRCm39)	nonsense	probably null
R6211:Snx31	UTSW	15	36,547,030 (GRCm39)	missense	probably damaging	0.98
R7198:Snx31	UTSW	15	36,555,455 (GRCm39)	missense	probably benign	0.04
R7293:Snx31	UTSW	15	36,523,596 (GRCm39)	missense	probably damaging	0.97
R7329:Snx31	UTSW	15	36,555,621 (GRCm39)	missense	probably benign	0.00
R7741:Snx31	UTSW	15	36,523,587 (GRCm39)	critical splice donor site	probably null
R8057:Snx31	UTSW	15	36,523,606 (GRCm39)	missense	probably damaging	0.98
R8791:Snx31	UTSW	15	36,537,678 (GRCm39)	missense	probably benign	0.01
R8806:Snx31	UTSW	15	36,537,698 (GRCm39)	missense	probably damaging	1.00
R9349:Snx31	UTSW	15	36,555,430 (GRCm39)	missense	probably damaging	1.00
R9655:Snx31	UTSW	15	36,534,582 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTGACATCCAAAGTGAC -3'
(R):5'- CGGCACTATGGGTATGTTCAG -3'

Sequencing Primer
(F):5'- TGACAGAATTTTCAGATCACAAGAGG -3'
(R):5'- GTATGTTCAGCTGGATCCCTGC -3'

Posted On

2016-09-06