Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Snx27'

706072

Institutional Source

Beutler Lab

Gene Symbol

Snx27

Ensembl Gene

ENSMUSG00000028136

Gene Name

sorting nexin family member 27

Synonyms

ESTM47, 5730552M22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94404851-94490023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94431593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 267 (Y267C)

Ref Sequence

ENSEMBL: ENSMUSP00000102904 (fasta)

Gene Model

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

AlphaFold

Q3UHD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029783
AA Change: Y267C

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: Y267C

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: Y267C

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: Y267C

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

silent
Transcript: ENSMUST00000198426

SMART Domains

Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136

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

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

probably benign
Transcript: ENSMUST00000200642
AA Change: Y176C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: Y176C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bcat2	A	G	7: 45,234,542 (GRCm39)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fam83h	T	A	15: 75,873,924 (GRCm39)	T1138S	possibly damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Mroh4	G	A	15: 74,483,405 (GRCm39)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Sphk2	C	T	7: 45,361,179 (GRCm39)	R275H	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Umod	C	T	7: 119,065,355 (GRCm39)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	probably damaging	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
R3964:Snx27	UTSW	3	94,438,613 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTCTGGGGTATTTACTGCAC -3'
(R):5'- GCAACGTATCTGTTCATCTTAGAGG -3'

Sequencing Primer
(F):5'- TCCTAGGCACTGAGATTACAAGC -3'
(R):5'- CGTATCTGTTCATCTTAGAGGATAAC -3'

Posted On

2022-03-25