Mutagenetix > Incidental Mutation

Incidental Mutation 'R1262:Snx25'

151626

Institutional Source

Beutler Lab

Gene Symbol

Snx25

Ensembl Gene

ENSMUSG00000038291

Gene Name

sorting nexin 25

Synonyms

LOC382008, SBBI31

MMRRC Submission

039329-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1262 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46486298-46605196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46558328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 80 (R80S)

Ref Sequence

ENSEMBL: ENSMUSP00000106006 (fasta)

Gene Model

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

AlphaFold

Q3ZT31

Predicted Effect

probably benign
Transcript: ENSMUST00000041582
AA Change: R80S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: R80S

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: ENSMUST00000110377
AA Change: R80S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291
AA Change: R80S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110378
AA Change: R226S

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: R226S

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

noncoding transcript
Transcript: ENSMUST00000150645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158004

Predicted Effect

probably benign
Transcript: ENSMUST00000170416
AA Change: R80S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: R80S

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

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
BC048679	A	G	7: 81,145,089 (GRCm39)	F85L	probably benign	Het
Btbd7	A	G	12: 102,754,210 (GRCm39)	I852T	probably benign	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,614,836 (GRCm39)	T281M	probably benign	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Or51b6b	G	A	7: 103,309,648 (GRCm39)	P270S	probably benign	Het
Or52h1	A	G	7: 103,828,623 (GRCm39)		probably null	Het
Syt6	A	T	3: 103,492,656 (GRCm39)		probably null	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,648,364 (GRCm39)	T521I	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
IGL01600:Snx25	APN	8	46,569,347 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCGAGCATTGTACGTAAGCTGAGA -3'
(R):5'- ACGGACGACATCATACATTCACATTCAC -3'

Sequencing Primer
(F):5'- CATTGTACGTAAGCTGAGAGACTG -3'
(R):5'- accatagcatcagtaatagtgtcag -3'

Posted On

2014-01-29