Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Snx25'

100940

Institutional Source

Beutler Lab

Gene Symbol

Snx25

Ensembl Gene

ENSMUSG00000038291

Gene Name

sorting nexin 25

Synonyms

LOC382008, SBBI31

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46033261-46152159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46035715 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 868 (I868L)

Ref Sequence

ENSEMBL: ENSMUSP00000106007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110378] [ENSMUST00000170416]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041582
AA Change: I722L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: I722L

Domain	Start	End	E-Value	Type
Pfam:PXA	1	163	9e-32	PFAM
RGS	287	401	6.62e-10	SMART
low complexity region	421	438	N/A	INTRINSIC
PX	512	624	1.38e-10	SMART
low complexity region	658	663	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Nexin_C	701	808	1.7e-35	PFAM
low complexity region	812	828	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110378
AA Change: I868L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: I868L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
Pfam:PXA	145	306	8.7e-30	PFAM
RGS	433	547	6.62e-10	SMART
low complexity region	567	584	N/A	INTRINSIC
PX	658	770	1.38e-10	SMART
low complexity region	804	809	N/A	INTRINSIC
low complexity region	810	822	N/A	INTRINSIC
Pfam:Nexin_C	847	953	1e-28	PFAM
low complexity region	958	974	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170416
AA Change: I722L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: I722L

Domain	Start	End	E-Value	Type
Pfam:PXA	1	163	9e-32	PFAM
RGS	287	401	6.62e-10	SMART
low complexity region	421	438	N/A	INTRINSIC
PX	512	624	1.38e-10	SMART
low complexity region	658	663	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Nexin_C	701	808	1.7e-35	PFAM
low complexity region	812	828	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176410

Predicted Effect

probably benign
Transcript: ENSMUST00000177186

Meta Mutation Damage Score

0.5530

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Snx25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Snx25	APN	8	46038476	missense	probably damaging	1.00
IGL01432:Snx25	APN	8	46105160	missense	probably damaging	0.96
IGL01600:Snx25	APN	8	46116310	missense	probably benign	0.00
IGL02150:Snx25	APN	8	46116281	missense	possibly damaging	0.89
IGL02386:Snx25	APN	8	46041349	missense	possibly damaging	0.93
IGL02691:Snx25	APN	8	46105265	missense	possibly damaging	0.88
IGL03338:Snx25	APN	8	46045210	missense	probably benign	0.04
IGL03377:Snx25	APN	8	46080301	unclassified	probably benign
duo	UTSW	8	46124082	start codon destroyed	probably null	0.88
R0047:Snx25	UTSW	8	46041365	missense	probably damaging	0.99
R0047:Snx25	UTSW	8	46041365	missense	probably damaging	0.99
R0048:Snx25	UTSW	8	46105109	splice site	probably benign
R0048:Snx25	UTSW	8	46105109	splice site	probably benign
R0056:Snx25	UTSW	8	46038513	missense	probably damaging	1.00
R0546:Snx25	UTSW	8	46103630	missense	probably benign	0.00
R0791:Snx25	UTSW	8	46124082	start codon destroyed	probably null	0.88
R1255:Snx25	UTSW	8	46116238	missense	probably benign	0.13
R1262:Snx25	UTSW	8	46105291	missense	probably damaging	0.98
R1522:Snx25	UTSW	8	46124082	start codon destroyed	probably null	0.88
R1652:Snx25	UTSW	8	46049473	missense	probably damaging	0.99
R1710:Snx25	UTSW	8	46116207	missense	possibly damaging	0.69
R1829:Snx25	UTSW	8	46035632	missense	possibly damaging	0.82
R2090:Snx25	UTSW	8	46056113	missense	probably damaging	1.00
R2158:Snx25	UTSW	8	46041407	missense	probably damaging	1.00
R2906:Snx25	UTSW	8	46049523	splice site	probably null
R4244:Snx25	UTSW	8	46105254	missense	probably damaging	0.98
R4394:Snx25	UTSW	8	46035678	missense	probably damaging	1.00
R4465:Snx25	UTSW	8	46068229	missense	possibly damaging	0.78
R4586:Snx25	UTSW	8	46116437	intron	probably benign
R4663:Snx25	UTSW	8	46035579	missense	probably damaging	1.00
R4961:Snx25	UTSW	8	46068192	missense	probably damaging	0.99
R5104:Snx25	UTSW	8	46068166	makesense	probably null
R5634:Snx25	UTSW	8	46041391	missense	possibly damaging	0.94
R6128:Snx25	UTSW	8	46105203	missense	probably benign	0.01
R6344:Snx25	UTSW	8	46035638	nonsense	probably null
R6382:Snx25	UTSW	8	46055991	missense	probably benign
R6523:Snx25	UTSW	8	46055855	missense	probably damaging	0.96
R6798:Snx25	UTSW	8	46033773	missense	probably damaging	0.98
R7143:Snx25	UTSW	8	46035715	missense	possibly damaging	0.92
R7147:Snx25	UTSW	8	46105196	missense	probably damaging	0.98
R7519:Snx25	UTSW	8	46116272	missense	probably damaging	1.00
R7723:Snx25	UTSW	8	46038479	missense	probably damaging	1.00
RF002:Snx25	UTSW	8	46116181	critical splice donor site	probably null

Predicted Primers

Posted On

2014-01-15