Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Snx14'

596673

Institutional Source

Beutler Lab

Gene Symbol

Snx14

Ensembl Gene

ENSMUSG00000032422

Gene Name

sorting nexin 14

Synonyms

YR-14, C330035N22Rik

MMRRC Submission

045799-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88258805-88320982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88280402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 518 (S518T)

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

probably benign
Transcript: ENSMUST00000165315
AA Change: S518T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: S518T

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 benign
Transcript: ENSMUST00000173039
AA Change: S474T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: S474T

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 benign
Transcript: ENSMUST00000174806
AA Change: S527T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: S527T

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,516 (GRCm39)	E1235G	probably damaging	Het
Abtb3	A	T	10: 85,460,813 (GRCm39)	I569F	possibly damaging	Het
Adam6a	A	G	12: 113,508,152 (GRCm39)	D175G	probably benign	Het
Adgrf4	A	T	17: 42,983,453 (GRCm39)	C76*	probably null	Het
Agbl3	C	T	6: 34,823,765 (GRCm39)	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,748,383 (GRCm39)	V488A	not run	Het
Akip1	T	A	7: 109,311,035 (GRCm39)	S192T	probably benign	Het
Apc2	G	A	10: 80,140,749 (GRCm39)	M201I	probably damaging	Het
Arel1	G	T	12: 84,987,043 (GRCm39)	N124K	probably damaging	Het
Atp10a	A	T	7: 58,453,457 (GRCm39)	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,599,634 (GRCm39)	Y586H	probably benign	Het
BC051019	A	G	7: 109,315,266 (GRCm39)	Y330H	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chek2	T	G	5: 110,987,916 (GRCm39)		probably null	Het
Cldn14	A	G	16: 93,716,615 (GRCm39)	L77S	probably damaging	Het
Cox15	T	C	19: 43,728,380 (GRCm39)	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,305,607 (GRCm39)	D369E	probably benign	Het
Cpxm1	T	C	2: 130,235,342 (GRCm39)	N550S	probably benign	Het
Csdc2	A	G	15: 81,833,399 (GRCm39)	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,669,702 (GRCm39)	C219S	probably damaging	Het
Erbb4	T	C	1: 68,367,278 (GRCm39)	T480A	probably benign	Het
Fndc1	G	A	17: 7,983,969 (GRCm39)	T1319I	unknown	Het
Gm5773	T	G	3: 93,680,565 (GRCm39)	V79G	probably damaging	Het
Hsf2	G	A	10: 57,387,431 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,238,608 (GRCm39)	T64A	probably damaging	Het
Kifc5b	T	C	17: 27,143,176 (GRCm39)	V316A	probably damaging	Het
Ktn1	A	G	14: 47,907,750 (GRCm39)	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,716,206 (GRCm39)	E143G	possibly damaging	Het
Mroh9	C	T	1: 162,852,122 (GRCm39)	E856K	probably benign	Het
Muc16	T	C	9: 18,568,773 (GRCm39)	T1249A	unknown	Het
Myh6	G	A	14: 55,194,607 (GRCm39)	R721W	probably damaging	Het
Myo6	A	T	9: 80,183,611 (GRCm39)	I669F	unknown	Het
N4bp2	A	G	5: 65,965,802 (GRCm39)	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,724 (GRCm39)	M1T	probably null	Het
Obscn	C	T	11: 58,990,603 (GRCm39)	V1657M	probably damaging	Het
Olfr908	A	G	9: 38,427,624 (GRCm39)	T99A	possibly damaging	Het
Or52a20	A	G	7: 103,366,560 (GRCm39)	E253G	possibly damaging	Het
Or52p2	A	T	7: 102,237,638 (GRCm39)	F104Y	probably benign	Het
Otud6b	C	A	4: 14,818,389 (GRCm39)	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 33,892,256 (GRCm39)	D204E	probably benign	Het
Pdia2	T	C	17: 26,417,842 (GRCm39)	S56G	probably benign	Het
Plcxd1	G	A	5: 110,250,369 (GRCm39)	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,501,712 (GRCm39)	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,586,594 (GRCm39)	F937L	possibly damaging	Het
Pth2	A	T	7: 44,830,733 (GRCm39)	M6L	probably benign	Het
Ptprd	T	A	4: 76,004,326 (GRCm39)	K143I	probably damaging	Het
Rhbdf2	T	C	11: 116,492,427 (GRCm39)	D487G	probably benign	Het
Rhbdf2	A	T	11: 116,494,775 (GRCm39)	D300E	probably benign	Het
Rock2	G	A	12: 17,026,048 (GRCm39)	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,683,790 (GRCm39)	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,216 (GRCm39)	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,293,227 (GRCm39)	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,007,088 (GRCm39)	V207I	probably damaging	Het
Sipa1l2	T	C	8: 126,190,972 (GRCm39)	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,661,201 (GRCm39)	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,535,159 (GRCm39)	F106I	probably damaging	Het
Sp2	T	C	11: 96,851,935 (GRCm39)	T330A	probably damaging	Het
Spata13	A	T	14: 60,993,698 (GRCm39)	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,703,201 (GRCm39)	V23G	possibly damaging	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tars1	A	C	15: 11,399,458 (GRCm39)		probably null	Het
Tead3	T	A	17: 28,551,801 (GRCm39)	T431S	probably benign	Het
Tiam2	G	A	17: 3,568,431 (GRCm39)	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,524,891 (GRCm39)	P12L	probably benign	Het
Topaz1	A	G	9: 122,614,201 (GRCm39)	H1207R	probably benign	Het
Trdn	G	T	10: 33,133,058 (GRCm39)	E107*	probably null	Het
Trp63	A	G	16: 25,701,375 (GRCm39)	N483S	probably benign	Het
Trpm4	A	G	7: 44,957,762 (GRCm39)	S1009P	probably benign	Het
Trpm6	T	C	19: 18,804,772 (GRCm39)	V908A	probably benign	Het
Tsen34	A	T	7: 3,697,601 (GRCm39)	M25L	possibly damaging	Het
Ttn	T	C	2: 76,781,827 (GRCm39)	E1073G	unknown	Het
Uaca	A	T	9: 60,783,677 (GRCm39)	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,774,793 (GRCm39)	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,094,117 (GRCm39)	M115K	probably benign	Het
Unc45b	A	T	11: 82,813,726 (GRCm39)	I378F	probably damaging	Het
Unk	G	A	11: 115,940,262 (GRCm39)	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,542,376 (GRCm39)	L3314Q	probably benign	Het
Vezt	A	G	10: 93,816,286 (GRCm39)	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,564,772 (GRCm39)	Q220*	probably null	Het
Yap1	T	C	9: 7,962,379 (GRCm39)	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,813,467 (GRCm39)	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,060,217 (GRCm39)	C374G	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
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
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'- GCATCAAGGTGGGTCTAAGG -3'
(R):5'- CTCCTGGATGTTGAGACTTAATCAG -3'

Sequencing Primer
(F):5'- GTATGGGGTTAGTACAATGAAACTAC -3'
(R):5'- CAGTAACTGAAAACTCCAAGCTTTG -3'

Posted On

2019-11-26