Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01600:Snx25'

92139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx25

Ensembl Gene

ENSMUSG00000038291

Gene Name

sorting nexin 25

Synonyms

LOC382008, SBBI31

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01600

Quality Score

Status

Chromosome

Chromosomal Location

46486298-46605196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46569347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 183 (D183E)

Ref Sequence

ENSEMBL: ENSMUSP00000106007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110377] [ENSMUST00000110378] [ENSMUST00000170416]

AlphaFold

Q3ZT31

Predicted Effect

probably benign
Transcript: ENSMUST00000041582
AA Change: D37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: D37E

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 benign
Transcript: ENSMUST00000110377
AA Change: D37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: D37E

Domain	Start	End	E-Value	Type
Pfam:PXA	1	138	5.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110378
AA Change: D183E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: D183E

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

probably benign
Transcript: ENSMUST00000170416
AA Change: D37E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: D37E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp7b	C	A	8: 22,517,541 (GRCm39)		probably null	Het
Ccr7	A	G	11: 99,035,971 (GRCm39)	V317A	probably benign	Het
Dna2	T	A	10: 62,786,585 (GRCm39)	I111K	probably damaging	Het
Egflam	A	G	15: 7,249,245 (GRCm39)	S858P	probably damaging	Het
Glt28d2	T	C	3: 85,779,290 (GRCm39)	Y61C	probably damaging	Het
Kbtbd12	C	T	6: 88,595,540 (GRCm39)	A97T	probably benign	Het
Myh4	A	G	11: 67,151,015 (GRCm39)	E1890G	possibly damaging	Het
Notch3	C	A	17: 32,363,472 (GRCm39)	G1197V	probably damaging	Het
Or4c10b	A	T	2: 89,712,006 (GRCm39)	M279L	probably benign	Het
Pcdh10	A	T	3: 45,333,922 (GRCm39)	I79L	probably damaging	Het
Runx1t1	T	A	4: 13,841,871 (GRCm39)	V181D	probably damaging	Het
Srsf11	G	A	3: 157,725,079 (GRCm39)		probably benign	Het
Tox	A	G	4: 6,697,585 (GRCm39)	V406A	probably damaging	Het
Vmn2r68	T	A	7: 84,871,468 (GRCm39)	H605L	probably benign	Het

Other mutations in Snx25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Snx25	APN	8	46,491,513 (GRCm39)	missense	probably damaging	1.00
IGL01432:Snx25	APN	8	46,558,197 (GRCm39)	missense	probably damaging	0.96
IGL02150:Snx25	APN	8	46,569,318 (GRCm39)	missense	possibly damaging	0.89
IGL02386:Snx25	APN	8	46,494,386 (GRCm39)	missense	possibly damaging	0.93
IGL02691:Snx25	APN	8	46,558,302 (GRCm39)	missense	possibly damaging	0.88
IGL03338:Snx25	APN	8	46,498,247 (GRCm39)	missense	probably benign	0.04
IGL03377:Snx25	APN	8	46,533,338 (GRCm39)	unclassified	probably benign
duo	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R0047:Snx25	UTSW	8	46,494,402 (GRCm39)	missense	probably damaging	0.99
R0047:Snx25	UTSW	8	46,494,402 (GRCm39)	missense	probably damaging	0.99
R0048:Snx25	UTSW	8	46,558,146 (GRCm39)	splice site	probably benign
R0048:Snx25	UTSW	8	46,558,146 (GRCm39)	splice site	probably benign
R0056:Snx25	UTSW	8	46,491,550 (GRCm39)	missense	probably damaging	1.00
R0546:Snx25	UTSW	8	46,556,667 (GRCm39)	missense	probably benign	0.00
R0791:Snx25	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R1165:Snx25	UTSW	8	46,488,752 (GRCm39)	missense	probably damaging	0.99
R1255:Snx25	UTSW	8	46,569,275 (GRCm39)	missense	probably benign	0.13
R1262:Snx25	UTSW	8	46,558,328 (GRCm39)	missense	probably damaging	0.98
R1522:Snx25	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R1652:Snx25	UTSW	8	46,502,510 (GRCm39)	missense	probably damaging	0.99
R1710:Snx25	UTSW	8	46,569,244 (GRCm39)	missense	possibly damaging	0.69
R1829:Snx25	UTSW	8	46,488,669 (GRCm39)	missense	possibly damaging	0.82
R2090:Snx25	UTSW	8	46,509,150 (GRCm39)	missense	probably damaging	1.00
R2158:Snx25	UTSW	8	46,494,444 (GRCm39)	missense	probably damaging	1.00
R2906:Snx25	UTSW	8	46,502,560 (GRCm39)	splice site	probably null
R4244:Snx25	UTSW	8	46,558,291 (GRCm39)	missense	probably damaging	0.98
R4394:Snx25	UTSW	8	46,488,715 (GRCm39)	missense	probably damaging	1.00
R4465:Snx25	UTSW	8	46,521,266 (GRCm39)	missense	possibly damaging	0.78
R4586:Snx25	UTSW	8	46,569,474 (GRCm39)	intron	probably benign
R4663:Snx25	UTSW	8	46,488,616 (GRCm39)	missense	probably damaging	1.00
R4961:Snx25	UTSW	8	46,521,229 (GRCm39)	missense	probably damaging	0.99
R5104:Snx25	UTSW	8	46,521,203 (GRCm39)	makesense	probably null
R5634:Snx25	UTSW	8	46,494,428 (GRCm39)	missense	possibly damaging	0.94
R6128:Snx25	UTSW	8	46,558,240 (GRCm39)	missense	probably benign	0.01
R6344:Snx25	UTSW	8	46,488,675 (GRCm39)	nonsense	probably null
R6382:Snx25	UTSW	8	46,509,028 (GRCm39)	missense	probably benign
R6523:Snx25	UTSW	8	46,508,892 (GRCm39)	missense	probably damaging	0.96
R6798:Snx25	UTSW	8	46,486,810 (GRCm39)	missense	probably damaging	0.98
R7143:Snx25	UTSW	8	46,488,752 (GRCm39)	missense	possibly damaging	0.92
R7147:Snx25	UTSW	8	46,558,233 (GRCm39)	missense	probably damaging	0.98
R7519:Snx25	UTSW	8	46,569,309 (GRCm39)	missense	probably damaging	1.00
R7723:Snx25	UTSW	8	46,491,516 (GRCm39)	missense	probably damaging	1.00
R9084:Snx25	UTSW	8	46,521,203 (GRCm39)	makesense	probably null
R9519:Snx25	UTSW	8	46,486,783 (GRCm39)	missense	probably damaging	1.00
RF002:Snx25	UTSW	8	46,569,218 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-09