Mutagenetix > Incidental Mutation

Incidental Mutation 'R3964:Snx27'

312237

Institutional Source

Beutler Lab

Gene Symbol

Snx27

Ensembl Gene

ENSMUSG00000028136

Gene Name

sorting nexin family member 27

Synonyms

ESTM47, 5730552M22Rik

MMRRC Submission

040933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94404851-94490023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94438613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 207 (R207S)

Ref Sequence

ENSEMBL: ENSMUSP00000102904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000198426] [ENSMUST00000199462] [ENSMUST00000200642]

AlphaFold

Q3UHD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000029783
AA Change: R207S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: R207S

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDZ	49	134	3.77e-19	SMART
PX	154	263	7.5e-21	SMART
Pfam:RA	271	360	1.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107283
AA Change: R207S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: R207S

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDZ	49	134	3.77e-19	SMART
PX	154	263	7.5e-21	SMART
Pfam:RA	271	360	1.5e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198426
AA Change: R37S

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136
AA Change: R37S

Domain	Start	End	E-Value	Type
PX	1	93	5.11e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198902

Predicted Effect

probably benign
Transcript: ENSMUST00000199462

SMART Domains

Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDB:3QE1\|A	39	58	9e-7	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200642
AA Change: R116S

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: R116S

Domain	Start	End	E-Value	Type
PDB:3QGL\|E	12	42	3e-12	PDB
PX	63	172	7.5e-21	SMART
Pfam:RA	180	269	5.3e-14	PFAM

Meta Mutation Damage Score

0.2651

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (64/65)

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, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	A	12: 81,607,583 (GRCm39)	A60S	possibly damaging	Het
Arpp21	C	G	9: 111,894,844 (GRCm39)	V805L	probably damaging	Het
C1galt1c1	A	T	X: 37,720,453 (GRCm39)	V181E	probably benign	Het
Cdh18	A	T	15: 23,474,187 (GRCm39)	T686S	probably benign	Het
Cemip	T	A	7: 83,600,717 (GRCm39)	Y968F	probably benign	Het
Cep70	T	A	9: 99,180,587 (GRCm39)	F581I	probably damaging	Het
Ctc1	T	A	11: 68,921,954 (GRCm39)	V800D	probably damaging	Het
Cttnbp2nl	T	C	3: 104,913,321 (GRCm39)	K188E	probably damaging	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cux2	G	T	5: 122,025,539 (GRCm39)	S43*	probably null	Het
Dhx57	T	A	17: 80,572,541 (GRCm39)	K711*	probably null	Het
Ehbp1l1	C	T	19: 5,760,601 (GRCm39)		probably null	Het
Esyt3	T	A	9: 99,202,375 (GRCm39)	D512V	probably damaging	Het
Gadl1	T	C	9: 115,794,676 (GRCm39)	S284P	probably damaging	Het
Gm14137	T	A	2: 119,005,497 (GRCm39)	S19T	probably benign	Het
Gpr141b	A	G	13: 19,913,614 (GRCm39)		noncoding transcript	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Gsdmc2	A	G	15: 63,721,683 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,449,320 (GRCm39)	T110A	probably benign	Het
Il23r	G	A	6: 67,443,281 (GRCm39)	T274I	probably benign	Het
Inhbb	C	A	1: 119,345,291 (GRCm39)	G333W	probably damaging	Het
Kcnb1	C	T	2: 166,946,412 (GRCm39)	C812Y	probably damaging	Het
Lrp1b	A	G	2: 41,202,482 (GRCm39)		probably benign	Het
Med31	C	T	11: 72,102,755 (GRCm39)	A118T	probably benign	Het
Mov10l1	A	G	15: 88,896,366 (GRCm39)	I737V	probably benign	Het
Mrs2	A	G	13: 25,185,746 (GRCm39)	I142T	possibly damaging	Het
Ms4a6b	T	C	19: 11,499,098 (GRCm39)	S71P	probably benign	Het
Muc2	G	A	7: 141,286,233 (GRCm39)	R120H	probably benign	Het
Muc5b	A	T	7: 141,420,705 (GRCm39)	I4191F	possibly damaging	Het
Myrf	T	C	19: 10,196,979 (GRCm39)	E267G	probably benign	Het
Nfatc2	C	T	2: 168,346,469 (GRCm39)	S875N	probably benign	Het
Nmi	T	C	2: 51,846,081 (GRCm39)	E67G	possibly damaging	Het
Nrap	T	C	19: 56,330,576 (GRCm39)	S1126G	probably damaging	Het
Nucb2	A	G	7: 116,128,110 (GRCm39)	E273G	probably damaging	Het
Or10g9	A	T	9: 39,911,767 (GRCm39)	V252E	possibly damaging	Het
Or1j4	A	G	2: 36,740,729 (GRCm39)	T224A	probably benign	Het
Or8b1b	T	C	9: 38,375,979 (GRCm39)	I214T	probably benign	Het
Or8b51	G	A	9: 38,569,023 (GRCm39)	L222F	probably benign	Het
Pcdhga12	A	T	18: 37,900,254 (GRCm39)	Q362L	probably benign	Het
Peak1	C	T	9: 56,167,263 (GRCm39)	E222K	probably damaging	Het
Pik3r1	T	C	13: 101,825,193 (GRCm39)	E458G	possibly damaging	Het
Pls1	T	C	9: 95,667,665 (GRCm39)	Q81R	probably benign	Het
Plxdc2	T	A	2: 16,665,651 (GRCm39)	F284I	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pole	A	G	5: 110,460,648 (GRCm39)	K1143E	probably damaging	Het
Ppfia4	A	T	1: 134,250,754 (GRCm39)	D478E	probably benign	Het
Ptprd	A	G	4: 75,978,073 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,298,785 (GRCm39)	I315T	probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Rnf13	G	A	3: 57,676,533 (GRCm39)	G63S	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shld2	T	A	14: 33,981,644 (GRCm39)	Q498L	probably damaging	Het
Slc50a1	T	C	3: 89,176,093 (GRCm39)	I151V	probably benign	Het
Sos1	C	T	17: 80,762,608 (GRCm39)	R73H	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,523 (GRCm39)	E975G	possibly damaging	Het
Tbccd1	A	G	16: 22,660,523 (GRCm39)	S98P	probably damaging	Het
Timd5	T	A	11: 46,426,340 (GRCm39)	V149D	possibly damaging	Het
Tmx4	T	C	2: 134,441,981 (GRCm39)	I206V	possibly damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Usp19	T	A	9: 108,375,228 (GRCm39)	V818E	probably damaging	Het
Wdr38	A	G	2: 38,889,362 (GRCm39)	Y51C	probably damaging	Het
Zfp456	T	C	13: 67,514,900 (GRCm39)	T269A	probably benign	Het
Zfp628	T	C	7: 4,924,744 (GRCm39)	S989P	probably benign	Het

Other mutations in Snx27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Snx27	APN	3	94,469,279 (GRCm39)	missense	probably damaging	1.00
IGL01061:Snx27	APN	3	94,436,287 (GRCm39)	splice site	probably benign
IGL01598:Snx27	APN	3	94,469,150 (GRCm39)	missense	probably damaging	1.00
IGL02276:Snx27	APN	3	94,438,686 (GRCm39)	missense	probably damaging	1.00
IGL02558:Snx27	APN	3	94,410,188 (GRCm39)	missense	probably damaging	0.99
IGL02748:Snx27	APN	3	94,410,872 (GRCm39)	missense	probably benign	0.04
IGL02817:Snx27	APN	3	94,410,770 (GRCm39)	missense	probably damaging	1.00
IGL02965:Snx27	APN	3	94,489,733 (GRCm39)	missense	probably damaging	0.99
R0733:Snx27	UTSW	3	94,469,320 (GRCm39)	missense	probably benign	0.03
R1241:Snx27	UTSW	3	94,427,540 (GRCm39)	missense	probably benign	0.18
R1882:Snx27	UTSW	3	94,426,416 (GRCm39)	missense	probably damaging	0.97
R2517:Snx27	UTSW	3	94,438,541 (GRCm39)	missense	probably damaging	1.00
R3850:Snx27	UTSW	3	94,427,542 (GRCm39)	missense	probably benign	0.00
R4035:Snx27	UTSW	3	94,431,551 (GRCm39)	missense	probably damaging	0.99
R4172:Snx27	UTSW	3	94,410,794 (GRCm39)	missense	probably benign	0.00
R4424:Snx27	UTSW	3	94,469,330 (GRCm39)	missense	probably benign	0.03
R4425:Snx27	UTSW	3	94,469,330 (GRCm39)	missense	probably benign	0.03
R4548:Snx27	UTSW	3	94,433,746 (GRCm39)	intron	probably benign
R4820:Snx27	UTSW	3	94,427,518 (GRCm39)	missense	probably damaging	1.00
R5114:Snx27	UTSW	3	94,431,551 (GRCm39)	missense	probably damaging	1.00
R5672:Snx27	UTSW	3	94,410,157 (GRCm39)	splice site	probably null
R5877:Snx27	UTSW	3	94,410,270 (GRCm39)	missense	probably damaging	1.00
R7138:Snx27	UTSW	3	94,436,247 (GRCm39)	missense	probably benign	0.04
R7284:Snx27	UTSW	3	94,431,498 (GRCm39)	missense	probably damaging	0.97
R7403:Snx27	UTSW	3	94,436,233 (GRCm39)	missense	probably damaging	1.00
R7593:Snx27	UTSW	3	94,410,272 (GRCm39)	missense	possibly damaging	0.83
R7827:Snx27	UTSW	3	94,426,366 (GRCm39)	missense	probably benign	0.11
R9320:Snx27	UTSW	3	94,431,593 (GRCm39)	missense	probably damaging	0.96
R9326:Snx27	UTSW	3	94,409,369 (GRCm39)	missense	probably damaging	0.99
R9467:Snx27	UTSW	3	94,489,723 (GRCm39)	missense	possibly damaging	0.46
X0057:Snx27	UTSW	3	94,431,581 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- ATAGGACAGCCTGTGTGAGTTG -3'
(R):5'- ACTGGTAAAATGAGATCATACCTCC -3'

Sequencing Primer
(F):5'- ACAGCCTGTGTGAGTTGCTTTTC -3'
(R):5'- CCTCCTCAAAAAGAGTAGTTTTCTTG -3'

Posted On

2015-04-29