Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Snx14'

168330

Institutional Source

Beutler Lab

Gene Symbol

Snx14

Ensembl Gene

ENSMUSG00000032422

Gene Name

sorting nexin 14

Synonyms

C330035N22Rik, YR-14

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88376750-88438958 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 88398364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 522 (Q522*)

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

probably null
Transcript: ENSMUST00000165315
AA Change: Q513*

SMART Domains

Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: Q513*

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 null
Transcript: ENSMUST00000173039
AA Change: Q469*

SMART Domains

Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: Q469*

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 null
Transcript: ENSMUST00000174806
AA Change: Q522*

SMART Domains

Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: Q522*

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977 (GRCm38)	N576K	probably benign	Het
Abca5	T	A	11: 110,299,986 (GRCm38)	H766L	possibly damaging	Het
Abca5	G	T	11: 110,299,978 (GRCm38)	L769M	probably damaging	Het
Acvr1c	A	G	2: 58,287,884 (GRCm38)	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779 (GRCm38)	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768 (GRCm38)	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746 (GRCm38)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277 (GRCm38)	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185 (GRCm38)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161 (GRCm38)	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651 (GRCm38)	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097 (GRCm38)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782 (GRCm38)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958 (GRCm38)	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703 (GRCm38)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169 (GRCm38)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558 (GRCm38)	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552 (GRCm38)	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788 (GRCm38)		probably benign	Het
Cr2	T	G	1: 195,155,272 (GRCm38)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112 (GRCm38)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250 (GRCm38)		probably benign	Het
Cxcr1	T	C	1: 74,192,770 (GRCm38)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936 (GRCm38)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727 (GRCm38)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278 (GRCm38)	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477 (GRCm38)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374 (GRCm38)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664 (GRCm38)	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281 (GRCm38)	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919 (GRCm38)	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076 (GRCm38)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285 (GRCm38)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469 (GRCm38)		noncoding transcript	Het
Galm	C	A	17: 80,183,267 (GRCm38)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102 (GRCm38)	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383 (GRCm38)	S207T	probably benign	Het
Il33	C	T	19: 29,955,215 (GRCm38)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm38)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324 (GRCm38)		probably null	Het
Kirrel2	A	G	7: 30,456,498 (GRCm38)	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555 (GRCm38)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484 (GRCm38)	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025 (GRCm38)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670 (GRCm38)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278 (GRCm38)	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529 (GRCm38)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664 (GRCm38)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822 (GRCm38)		probably null	Het
Nckap1	T	C	2: 80,553,415 (GRCm38)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170 (GRCm38)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347 (GRCm38)	D143V	probably damaging	Het
Olfr548-ps1	T	C	7: 102,542,125 (GRCm38)	L63P	probably damaging	Het
Or14a260	T	C	7: 86,336,345 (GRCm38)	D17G	possibly damaging	Het
Or4a69	T	C	2: 89,482,248 (GRCm38)	M296V	probably null	Het
Or4b1d	A	G	2: 90,138,404 (GRCm38)	V245A	probably benign	Het
Or4c120	A	G	2: 89,170,937 (GRCm38)	S92P	probably damaging	Het
Or4f58	A	G	2: 112,021,404 (GRCm38)	V150A	probably benign	Het
Or8b44	A	G	9: 38,498,818 (GRCm38)	I50V	probably benign	Het
Or8g17	T	C	9: 39,019,025 (GRCm38)	D172G	probably benign	Het
Parp14	T	G	16: 35,857,224 (GRCm38)	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389 (GRCm38)	R578H	possibly damaging	Het
Phrf1	T	A	7: 141,259,801 (GRCm38)		probably benign	Het
Polr3b	C	A	10: 84,680,385 (GRCm38)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859 (GRCm38)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460 (GRCm38)	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982 (GRCm38)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005 (GRCm38)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130 (GRCm38)	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748 (GRCm38)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634 (GRCm38)	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536 (GRCm38)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050 (GRCm38)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347 (GRCm38)	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000 (GRCm38)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952 (GRCm38)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813 (GRCm38)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734 (GRCm38)		probably null	Het
Sidt2	A	G	9: 45,950,089 (GRCm38)	V19A	probably damaging	Het
Stx1b	A	G	7: 127,814,972 (GRCm38)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878 (GRCm38)	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975 (GRCm38)	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951 (GRCm38)	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452 (GRCm38)	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184 (GRCm38)		probably null	Het
Txk	A	C	5: 72,707,671 (GRCm38)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887 (GRCm38)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301 (GRCm38)		probably null	Het
Ubtfl1	T	G	9: 18,410,193 (GRCm38)	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505 (GRCm38)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653 (GRCm38)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786 (GRCm38)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270 (GRCm38)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496 (GRCm38)	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801 (GRCm38)	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975 (GRCm38)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573 (GRCm38)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675 (GRCm38)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433 (GRCm38)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972 (GRCm38)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771 (GRCm38)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731 (GRCm38)	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256 (GRCm38)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793 (GRCm38)	V430E	probably damaging	Het

Other mutations in Snx14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Snx14	APN	9	88,402,190 (GRCm38)	missense	probably damaging	0.99
IGL00773:Snx14	APN	9	88,394,539 (GRCm38)	missense	probably damaging	0.96
IGL00847:Snx14	APN	9	88,420,329 (GRCm38)	missense	probably damaging	1.00
IGL01526:Snx14	APN	9	88,381,500 (GRCm38)	missense	probably damaging	0.99
IGL01662:Snx14	APN	9	88,385,838 (GRCm38)	splice site	probably benign
IGL01928:Snx14	APN	9	88,381,512 (GRCm38)	missense	probably benign	0.04
IGL02225:Snx14	APN	9	88,413,524 (GRCm38)	missense	probably damaging	0.99
IGL02498:Snx14	APN	9	88,407,464 (GRCm38)	missense	probably damaging	1.00
IGL02585:Snx14	APN	9	88,404,518 (GRCm38)	missense	possibly damaging	0.92
IGL02634:Snx14	APN	9	88,403,303 (GRCm38)	missense	probably damaging	1.00
IGL03073:Snx14	APN	9	88,422,896 (GRCm38)	critical splice donor site	probably null
R0167:Snx14	UTSW	9	88,407,416 (GRCm38)	missense	probably damaging	1.00
R0324:Snx14	UTSW	9	88,405,238 (GRCm38)	critical splice donor site	probably null
R0627:Snx14	UTSW	9	88,394,430 (GRCm38)	missense	probably benign
R0862:Snx14	UTSW	9	88,383,996 (GRCm38)	missense	possibly damaging	0.81
R0864:Snx14	UTSW	9	88,383,996 (GRCm38)	missense	possibly damaging	0.81
R0973:Snx14	UTSW	9	88,400,721 (GRCm38)	critical splice donor site	probably null
R0973:Snx14	UTSW	9	88,400,721 (GRCm38)	critical splice donor site	probably null
R0974:Snx14	UTSW	9	88,400,721 (GRCm38)	critical splice donor site	probably null
R1478:Snx14	UTSW	9	88,394,528 (GRCm38)	missense	probably benign	0.00
R1522:Snx14	UTSW	9	88,402,224 (GRCm38)	missense	possibly damaging	0.52
R1612:Snx14	UTSW	9	88,376,905 (GRCm38)	missense	possibly damaging	0.81
R1634:Snx14	UTSW	9	88,407,490 (GRCm38)	splice site	probably benign
R1634:Snx14	UTSW	9	88,385,739 (GRCm38)	missense	probably benign	0.00
R1704:Snx14	UTSW	9	88,413,538 (GRCm38)	missense	probably damaging	1.00
R1713:Snx14	UTSW	9	88,415,675 (GRCm38)	missense	probably damaging	1.00
R1883:Snx14	UTSW	9	88,402,261 (GRCm38)	missense	probably benign	0.01
R3701:Snx14	UTSW	9	88,420,243 (GRCm38)	splice site	probably benign
R3853:Snx14	UTSW	9	88,407,319 (GRCm38)	splice site	probably benign
R4301:Snx14	UTSW	9	88,410,623 (GRCm38)	missense	probably damaging	1.00
R4449:Snx14	UTSW	9	88,422,999 (GRCm38)	missense	probably benign	0.05
R4793:Snx14	UTSW	9	88,394,442 (GRCm38)	missense	probably damaging	0.98
R4934:Snx14	UTSW	9	88,398,288 (GRCm38)	missense	probably damaging	0.98
R5126:Snx14	UTSW	9	88,382,099 (GRCm38)	missense	probably damaging	1.00
R5227:Snx14	UTSW	9	88,398,294 (GRCm38)	missense	possibly damaging	0.77
R5518:Snx14	UTSW	9	88,383,802 (GRCm38)	missense	probably damaging	1.00
R5838:Snx14	UTSW	9	88,391,776 (GRCm38)	missense	probably damaging	1.00
R5957:Snx14	UTSW	9	88,403,274 (GRCm38)	missense	possibly damaging	0.84
R6153:Snx14	UTSW	9	88,391,806 (GRCm38)	missense	probably damaging	1.00
R6156:Snx14	UTSW	9	88,407,339 (GRCm38)	missense	possibly damaging	0.92
R6703:Snx14	UTSW	9	88,422,914 (GRCm38)	missense	probably damaging	0.96
R6784:Snx14	UTSW	9	88,381,792 (GRCm38)	missense	probably benign	0.01
R6823:Snx14	UTSW	9	88,394,382 (GRCm38)	missense	possibly damaging	0.90
R6837:Snx14	UTSW	9	88,380,223 (GRCm38)	missense	probably benign	0.07
R7169:Snx14	UTSW	9	88,398,309 (GRCm38)	missense	probably damaging	0.98
R7216:Snx14	UTSW	9	88,381,791 (GRCm38)	missense	probably damaging	0.99
R7224:Snx14	UTSW	9	88,394,561 (GRCm38)	missense	possibly damaging	0.92
R7357:Snx14	UTSW	9	88,404,316 (GRCm38)	missense	possibly damaging	0.49
R7738:Snx14	UTSW	9	88,407,474 (GRCm38)	missense	probably benign	0.00
R7743:Snx14	UTSW	9	88,398,349 (GRCm38)	missense	probably benign	0.01
R7969:Snx14	UTSW	9	88,413,560 (GRCm38)	missense	probably damaging	1.00
R8016:Snx14	UTSW	9	88,415,687 (GRCm38)	missense	probably damaging	0.99
R8384:Snx14	UTSW	9	88,403,280 (GRCm38)	nonsense	probably null
R8492:Snx14	UTSW	9	88,381,816 (GRCm38)	missense	possibly damaging	0.94
R8686:Snx14	UTSW	9	88,415,693 (GRCm38)	missense	probably damaging	1.00
R8738:Snx14	UTSW	9	88,407,400 (GRCm38)	missense	possibly damaging	0.93
R8870:Snx14	UTSW	9	88,413,488 (GRCm38)	missense	probably benign	0.01
R9208:Snx14	UTSW	9	88,383,779 (GRCm38)	missense	probably benign	0.01
R9402:Snx14	UTSW	9	88,407,437 (GRCm38)	missense	probably damaging	1.00
R9620:Snx14	UTSW	9	88,381,741 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCACCTACATCTacacaaacatacaca -3'
(R):5'- TTAGCACTTTAAGTCATTggttctcaacct -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- agagtcgcagcattaggaag -3'

Posted On

2014-04-13