Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Snx14'

368779

Institutional Source

Beutler Lab

Gene Symbol

Snx14

Ensembl Gene

ENSMUSG00000032422

Gene Name

sorting nexin 14

Synonyms

YR-14, C330035N22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88258805-88320982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88276495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 606 (S606P)

Ref Sequence

ENSEMBL: ENSMUSP00000133533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126405] [ENSMUST00000165315] [ENSMUST00000173011] [ENSMUST00000173039] [ENSMUST00000174806]

AlphaFold

Q8BHY8

Predicted Effect

probably benign
Transcript: ENSMUST00000126405

SMART Domains

Protein: ENSMUSP00000116773
Gene: ENSMUSG00000032422

Domain	Start	End	E-Value	Type
transmembrane domain	57	76	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:PXA	157	210	3.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155008

Predicted Effect

probably damaging
Transcript: ENSMUST00000165315
AA Change: S597P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: S597P

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
Pfam:PXA	157	330	8.2e-49	PFAM
Pfam:RGS	363	495	4.3e-13	PFAM
PX	585	704	8.77e-13	SMART
low complexity region	771	785	N/A	INTRINSIC
Pfam:Nexin_C	825	930	2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173011

SMART Domains

Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
Pfam:PXA	157	330	3.1e-49	PFAM
Pfam:RGS	363	482	3.1e-9	PFAM
low complexity region	499	513	N/A	INTRINSIC
Pfam:Nexin_C	553	658	7.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173039
AA Change: S553P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: S553P

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
Pfam:PXA	154	286	6.5e-33	PFAM
Pfam:RGS	319	451	2.6e-13	PFAM
PX	541	660	8.77e-13	SMART
low complexity region	727	741	N/A	INTRINSIC
Pfam:Nexin_C	781	886	1.1e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174806
AA Change: S606P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: S606P

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
Pfam:PXA	158	327	1.9e-44	PFAM
Pfam:RGS	363	495	1.3e-13	PFAM
PX	594	713	8.77e-13	SMART
low complexity region	780	794	N/A	INTRINSIC
Pfam:Nexin_C	834	938	2.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187610

Meta Mutation Damage Score

0.1064

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Acp2	T	C	2: 91,037,134 (GRCm39)	F205L	probably benign	Het
Adam17	T	C	12: 21,397,396 (GRCm39)	N219D	probably benign	Het
Aldh2	T	C	5: 121,707,042 (GRCm39)	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Tpi1	A	T	6: 124,789,544 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	probably damaging	Het

Other mutations in Snx14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Snx14	APN	9	88,284,243 (GRCm39)	missense	probably damaging	0.99
IGL00773:Snx14	APN	9	88,276,592 (GRCm39)	missense	probably damaging	0.96
IGL00847:Snx14	APN	9	88,302,382 (GRCm39)	missense	probably damaging	1.00
IGL01526:Snx14	APN	9	88,263,553 (GRCm39)	missense	probably damaging	0.99
IGL01662:Snx14	APN	9	88,267,891 (GRCm39)	splice site	probably benign
IGL01928:Snx14	APN	9	88,263,565 (GRCm39)	missense	probably benign	0.04
IGL02225:Snx14	APN	9	88,295,577 (GRCm39)	missense	probably damaging	0.99
IGL02498:Snx14	APN	9	88,289,517 (GRCm39)	missense	probably damaging	1.00
IGL02585:Snx14	APN	9	88,286,571 (GRCm39)	missense	possibly damaging	0.92
IGL02634:Snx14	APN	9	88,285,356 (GRCm39)	missense	probably damaging	1.00
IGL03073:Snx14	APN	9	88,304,949 (GRCm39)	critical splice donor site	probably null
R0167:Snx14	UTSW	9	88,289,469 (GRCm39)	missense	probably damaging	1.00
R0324:Snx14	UTSW	9	88,287,291 (GRCm39)	critical splice donor site	probably null
R0627:Snx14	UTSW	9	88,276,483 (GRCm39)	missense	probably benign
R0862:Snx14	UTSW	9	88,266,049 (GRCm39)	missense	possibly damaging	0.81
R0864:Snx14	UTSW	9	88,266,049 (GRCm39)	missense	possibly damaging	0.81
R0973:Snx14	UTSW	9	88,282,774 (GRCm39)	critical splice donor site	probably null
R0973:Snx14	UTSW	9	88,282,774 (GRCm39)	critical splice donor site	probably null
R0974:Snx14	UTSW	9	88,282,774 (GRCm39)	critical splice donor site	probably null
R1478:Snx14	UTSW	9	88,276,581 (GRCm39)	missense	probably benign	0.00
R1511:Snx14	UTSW	9	88,280,417 (GRCm39)	nonsense	probably null
R1522:Snx14	UTSW	9	88,284,277 (GRCm39)	missense	possibly damaging	0.52
R1612:Snx14	UTSW	9	88,258,958 (GRCm39)	missense	possibly damaging	0.81
R1634:Snx14	UTSW	9	88,289,543 (GRCm39)	splice site	probably benign
R1634:Snx14	UTSW	9	88,267,792 (GRCm39)	missense	probably benign	0.00
R1704:Snx14	UTSW	9	88,295,591 (GRCm39)	missense	probably damaging	1.00
R1713:Snx14	UTSW	9	88,297,728 (GRCm39)	missense	probably damaging	1.00
R1883:Snx14	UTSW	9	88,284,314 (GRCm39)	missense	probably benign	0.01
R3701:Snx14	UTSW	9	88,302,296 (GRCm39)	splice site	probably benign
R3853:Snx14	UTSW	9	88,289,372 (GRCm39)	splice site	probably benign
R4301:Snx14	UTSW	9	88,292,676 (GRCm39)	missense	probably damaging	1.00
R4449:Snx14	UTSW	9	88,305,052 (GRCm39)	missense	probably benign	0.05
R4934:Snx14	UTSW	9	88,280,341 (GRCm39)	missense	probably damaging	0.98
R5126:Snx14	UTSW	9	88,264,152 (GRCm39)	missense	probably damaging	1.00
R5227:Snx14	UTSW	9	88,280,347 (GRCm39)	missense	possibly damaging	0.77
R5518:Snx14	UTSW	9	88,265,855 (GRCm39)	missense	probably damaging	1.00
R5838:Snx14	UTSW	9	88,273,829 (GRCm39)	missense	probably damaging	1.00
R5957:Snx14	UTSW	9	88,285,327 (GRCm39)	missense	possibly damaging	0.84
R6153:Snx14	UTSW	9	88,273,859 (GRCm39)	missense	probably damaging	1.00
R6156:Snx14	UTSW	9	88,289,392 (GRCm39)	missense	possibly damaging	0.92
R6703:Snx14	UTSW	9	88,304,967 (GRCm39)	missense	probably damaging	0.96
R6784:Snx14	UTSW	9	88,263,845 (GRCm39)	missense	probably benign	0.01
R6823:Snx14	UTSW	9	88,276,435 (GRCm39)	missense	possibly damaging	0.90
R6837:Snx14	UTSW	9	88,262,276 (GRCm39)	missense	probably benign	0.07
R7169:Snx14	UTSW	9	88,280,362 (GRCm39)	missense	probably damaging	0.98
R7216:Snx14	UTSW	9	88,263,844 (GRCm39)	missense	probably damaging	0.99
R7224:Snx14	UTSW	9	88,276,614 (GRCm39)	missense	possibly damaging	0.92
R7357:Snx14	UTSW	9	88,286,369 (GRCm39)	missense	possibly damaging	0.49
R7738:Snx14	UTSW	9	88,289,527 (GRCm39)	missense	probably benign	0.00
R7743:Snx14	UTSW	9	88,280,402 (GRCm39)	missense	probably benign	0.01
R7969:Snx14	UTSW	9	88,295,613 (GRCm39)	missense	probably damaging	1.00
R8016:Snx14	UTSW	9	88,297,740 (GRCm39)	missense	probably damaging	0.99
R8384:Snx14	UTSW	9	88,285,333 (GRCm39)	nonsense	probably null
R8492:Snx14	UTSW	9	88,263,869 (GRCm39)	missense	possibly damaging	0.94
R8686:Snx14	UTSW	9	88,297,746 (GRCm39)	missense	probably damaging	1.00
R8738:Snx14	UTSW	9	88,289,453 (GRCm39)	missense	possibly damaging	0.93
R8870:Snx14	UTSW	9	88,295,541 (GRCm39)	missense	probably benign	0.01
R9208:Snx14	UTSW	9	88,265,832 (GRCm39)	missense	probably benign	0.01
R9402:Snx14	UTSW	9	88,289,490 (GRCm39)	missense	probably damaging	1.00
R9620:Snx14	UTSW	9	88,263,794 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTAGATGTCAGGGGTCGG -3'
(R):5'- GCAGTTGTATCTCACGTGCTG -3'

Sequencing Primer
(F):5'- AGGTGTGGAGGGTTGACACC -3'
(R):5'- GCTGTGGTATAGGATGTATGAGAAAC -3'

Posted On

2016-02-04