Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Snx14'

4836

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

88258805-88320982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88284243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 475 (S475Y)

Ref Sequence

ENSEMBL: ENSMUSP00000130116 (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

probably damaging
Transcript: ENSMUST00000165315
AA Change: S475Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: S475Y

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: S431Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: S431Y

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: S475Y

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: S475Y

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

Coding Region Coverage

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,200,276 (GRCm39)		probably null	Het
Cfap251	T	G	5: 123,412,240 (GRCm39)	I84S	probably damaging	Het
Dusp23	T	C	1: 172,459,199 (GRCm39)		probably benign	Het
Invs	C	T	4: 48,407,689 (GRCm39)	Q555*	probably null	Het
Mak16	T	C	8: 31,656,778 (GRCm39)	N9D	probably benign	Het
Mrps7	T	C	11: 115,495,684 (GRCm39)	I74T	possibly damaging	Het
Nlrp4a	T	G	7: 26,149,410 (GRCm39)	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,151,075 (GRCm39)	L102P	probably damaging	Het
Pdp2	T	C	8: 105,320,829 (GRCm39)	M226T	probably benign	Het
Pik3r2	T	C	8: 71,223,073 (GRCm39)	D449G	probably damaging	Het
Rnf157	G	A	11: 116,253,181 (GRCm39)	P76S	probably benign	Het
Senp6	C	A	9: 80,021,120 (GRCm39)	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,781,818 (GRCm39)	E349G	probably damaging	Het
Vmn1r180	A	T	7: 23,651,948 (GRCm39)	H37L	probably benign	Het
Xrn1	A	T	9: 95,921,002 (GRCm39)	H1371L	probably benign	Het

Other mutations in Snx14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4793:Snx14	UTSW	9	88,276,495 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2012-04-20