Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Snx14'

537744

Institutional Source

Beutler Lab

Gene Symbol

Snx14

Ensembl Gene

ENSMUSG00000032422

Gene Name

sorting nexin 14

Synonyms

YR-14, C330035N22Rik

MMRRC Submission

044935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88258805-88320982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88276435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 617 (N617D)

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

possibly damaging
Transcript: ENSMUST00000165315
AA Change: N617D

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: N617D

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

possibly damaging
Transcript: ENSMUST00000173039
AA Change: N573D

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: N573D

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

possibly damaging
Transcript: ENSMUST00000174806
AA Change: N626D

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: N626D

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: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,626,735 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,705,200 (GRCm39)	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,501,231 (GRCm39)	S384G	probably benign	Het
Anxa8	A	T	14: 33,816,722 (GRCm39)	D204V	possibly damaging	Het
Asap3	A	T	4: 135,954,883 (GRCm39)	E71V	possibly damaging	Het
BC024139	T	C	15: 76,003,946 (GRCm39)	*773W	probably null	Het
Bckdhb	T	C	9: 83,835,814 (GRCm39)	V106A	possibly damaging	Het
Cep250	A	G	2: 155,823,379 (GRCm39)	D1010G	probably benign	Het
Chrd	T	A	16: 20,553,486 (GRCm39)	L243Q	probably damaging	Het
Cib2	G	T	9: 54,457,175 (GRCm39)	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,510,248 (GRCm39)	L113*	probably null	Het
Cubn	T	A	2: 13,449,840 (GRCm39)	I895L	probably benign	Het
Cyp24a1	C	A	2: 170,329,899 (GRCm39)	R351I	probably benign	Het
Cyp2a12	A	T	7: 26,733,581 (GRCm39)	D320V	possibly damaging	Het
Dact1	C	G	12: 71,364,713 (GRCm39)	P498R	probably benign	Het
Diaph1	T	A	18: 38,009,436 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,495,863 (GRCm39)	I3198N	probably benign	Het
Dop1b	A	T	16: 93,552,373 (GRCm39)	I271F	possibly damaging	Het
Elp1	A	G	4: 56,787,939 (GRCm39)	Y331H	probably damaging	Het
Erich3	C	A	3: 154,433,074 (GRCm39)	F349L	probably damaging	Het
Fam187b	G	C	7: 30,688,715 (GRCm39)	V358L	probably benign	Het
Fat4	T	A	3: 39,038,088 (GRCm39)	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,865,934 (GRCm39)	E118D	probably benign	Het
Fgf1	A	G	18: 38,980,161 (GRCm39)	I71T	probably damaging	Het
Fryl	A	T	5: 73,222,560 (GRCm39)	I2007K	probably damaging	Het
Galnt2	C	G	8: 125,050,750 (GRCm39)	P130A	probably benign	Het
H1f10	G	A	6: 87,958,284 (GRCm39)	R19C	probably damaging	Het
Hmga2	A	C	10: 120,311,929 (GRCm39)	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,209,480 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,814 (GRCm39)	I756F	probably damaging	Het
Hspa1b	A	T	17: 35,177,161 (GRCm39)	S275T	probably benign	Het
Kcnh1	T	C	1: 192,187,597 (GRCm39)	*99R	probably null	Het
Kit	C	A	5: 75,813,309 (GRCm39)	L864I	probably benign	Het
Klk14	A	T	7: 43,343,880 (GRCm39)	K196*	probably null	Het
Lmod1	A	G	1: 135,252,905 (GRCm39)	N53S	probably damaging	Het
Myh13	T	C	11: 67,246,984 (GRCm39)	M1235T	probably benign	Het
Neurl3	T	A	1: 36,307,785 (GRCm39)	K175*	probably null	Het
Nlgn2	T	A	11: 69,716,750 (GRCm39)	K597M	probably damaging	Het
Npdc1	T	C	2: 25,299,121 (GRCm39)	M306T	probably damaging	Het
Obscn	C	T	11: 58,958,769 (GRCm39)		probably null	Het
Or1p1b	T	C	11: 74,130,522 (GRCm39)	L44P	probably damaging	Het
Or52m2	G	A	7: 102,263,693 (GRCm39)	L168F	probably damaging	Het
Or8b49	T	C	9: 38,506,201 (GRCm39)	I228T	possibly damaging	Het
Pbrm1	A	T	14: 30,806,747 (GRCm39)	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,727,921 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Phf12	C	T	11: 77,913,337 (GRCm39)	Q430*	probably null	Het
Plaat5	A	T	19: 7,616,861 (GRCm39)		probably benign	Het
Pld3	C	T	7: 27,235,322 (GRCm39)	R302H	probably damaging	Het
Plekha5	T	C	6: 140,471,584 (GRCm39)	S112P	probably benign	Het
Pmfbp1	T	A	8: 110,256,939 (GRCm39)	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,503,382 (GRCm39)	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078 (GRCm38)		probably benign	Het
Psmg2	A	T	18: 67,781,927 (GRCm39)	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824 (GRCm38)	R155G	probably damaging	Het
Rnf215	T	C	11: 4,086,609 (GRCm39)	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtkn2	G	A	10: 67,862,462 (GRCm39)	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,218,814 (GRCm39)	I472F	probably benign	Het
Spire2	T	C	8: 124,083,466 (GRCm39)	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,064,787 (GRCm39)	R1904M	probably damaging	Het
Swap70	A	G	7: 109,880,510 (GRCm39)	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,896,087 (GRCm39)	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,709,872 (GRCm39)	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,297,780 (GRCm39)	S207T	probably damaging	Het
Timm44	A	G	8: 4,317,282 (GRCm39)	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,633,849 (GRCm39)	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,788,035 (GRCm39)	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,412,513 (GRCm39)	L28I	probably benign	Het
Tph2	T	A	10: 115,010,011 (GRCm39)	N183I	probably benign	Het
Ttyh1	T	C	7: 4,125,528 (GRCm39)	I60T	probably damaging	Het
Ubn1	T	G	16: 4,882,411 (GRCm39)	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,842 (GRCm39)	N2019S	probably benign	Het
Wbp2	T	C	11: 115,977,736 (GRCm39)	N6D	probably benign	Het
Wdr59	T	A	8: 112,185,672 (GRCm39)	E810V	possibly damaging	Het
Wiz	T	C	17: 32,579,395 (GRCm39)	D220G	probably damaging	Het
Yipf7	A	G	5: 69,674,413 (GRCm39)	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,790,972 (GRCm39)	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,644,472 (GRCm39)		probably benign	Het
Zfp707	C	T	15: 75,841,572 (GRCm39)		probably benign	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
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'- GTAATGGAGGATGACTCTCCAG -3'

Sequencing Primer
(F):5'- TCAGGGGTCGGGGAGTAC -3'
(R):5'- ATGACTCTCCAGTAGAAGCTGTG -3'

Posted On

2018-10-18