Mutagenetix > Incidental Mutation

Incidental Mutation 'R7138:Snx27'

553176

Institutional Source

Beutler Lab

Gene Symbol

Snx27

Ensembl Gene

ENSMUSG00000028136

Gene Name

sorting nexin family member 27

Synonyms

ESTM47, 5730552M22Rik

MMRRC Submission

045249-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94404851-94490023 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94436247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 256 (M256K)

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: M256K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136
AA Change: M256K

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 benign
Transcript: ENSMUST00000107283
AA Change: M256K

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136
AA Change: M256K

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

probably benign
Transcript: ENSMUST00000198426
AA Change: M86K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136
AA Change: M86K

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: M165K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136
AA Change: M165K

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: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,113 (GRCm39)	C698*	probably null	Het
Acacb	G	A	5: 114,345,387 (GRCm39)	V947M	probably benign	Het
Acadsb	T	G	7: 131,042,968 (GRCm39)	L343R	probably damaging	Het
Adgrf2	C	T	17: 43,021,874 (GRCm39)	E317K	probably damaging	Het
Agap2	A	G	10: 126,923,154 (GRCm39)	T663A	unknown	Het
Akap8	A	T	17: 32,535,515 (GRCm39)	F166L	possibly damaging	Het
Ankrd17	A	T	5: 90,390,836 (GRCm39)	M2278K	probably benign	Het
Avl9	T	C	6: 56,705,242 (GRCm39)	S148P	probably damaging	Het
Brf1	T	C	12: 112,933,835 (GRCm39)	E266G	probably damaging	Het
Cabin1	T	C	10: 75,581,187 (GRCm39)	K380E	probably damaging	Het
Catsper2	T	C	2: 121,227,544 (GRCm39)	D542G	possibly damaging	Het
Cbln4	C	A	2: 171,884,095 (GRCm39)	D42Y	probably damaging	Het
Ccn6	T	A	10: 39,034,473 (GRCm39)	Q43L	possibly damaging	Het
Cd5	C	T	19: 10,697,668 (GRCm39)	R437Q	probably damaging	Het
Ceacam18	G	C	7: 43,288,706 (GRCm39)	E152D	possibly damaging	Het
Chd8	A	G	14: 52,451,955 (GRCm39)	S1347P	possibly damaging	Het
Chodl	T	G	16: 78,738,335 (GRCm39)	I101R	probably damaging	Het
Clk4	T	G	11: 51,168,759 (GRCm39)	F377L	probably damaging	Het
Cntnap3	C	T	13: 64,929,539 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,458,780 (GRCm39)	S231G	probably benign	Het
Disp2	T	A	2: 118,617,361 (GRCm39)	H118Q	probably benign	Het
Dnah10	T	C	5: 124,900,009 (GRCm39)	F3869S	probably damaging	Het
Edil3	C	T	13: 89,279,847 (GRCm39)	T175I	probably damaging	Het
Eif1ad18	T	G	12: 88,050,648 (GRCm39)	I61R	probably damaging	Het
Fap	A	G	2: 62,372,522 (GRCm39)	S319P	probably benign	Het
Frmpd2	T	A	14: 33,293,761 (GRCm39)	V1309E	probably benign	Het
Galntl5	T	A	5: 25,394,842 (GRCm39)	S70T	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gna15	G	A	10: 81,343,881 (GRCm39)	T260M	probably damaging	Het
Gucy2c	A	G	6: 136,705,342 (GRCm39)	I531T	probably damaging	Het
Heatr5b	A	G	17: 79,135,417 (GRCm39)	V238A	probably damaging	Het
Htr2a	A	G	14: 74,943,182 (GRCm39)	Y254C	probably damaging	Het
Inpp5b	A	G	4: 124,679,065 (GRCm39)	R491G	probably damaging	Het
Kcnt2	C	T	1: 140,523,778 (GRCm39)	L1093F	possibly damaging	Het
Kcp	C	A	6: 29,491,861 (GRCm39)	E922*	probably null	Het
Lrp2	G	A	2: 69,296,089 (GRCm39)	A3340V	possibly damaging	Het
Lrrn1	T	G	6: 107,545,336 (GRCm39)	V378G	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Net1	G	A	13: 3,938,510 (GRCm39)	R126C	probably damaging	Het
Nipsnap3a	T	C	4: 52,993,978 (GRCm39)	C20R	probably benign	Het
Nxpe2	C	T	9: 48,232,006 (GRCm39)	C317Y	probably damaging	Het
Or10v9	T	A	19: 11,832,652 (GRCm39)	I222F	probably damaging	Het
Or52h1	T	C	7: 103,829,504 (GRCm39)	Y37C	probably damaging	Het
Or8b8	T	C	9: 37,809,360 (GRCm39)	I220T	probably damaging	Het
Or8g54	T	G	9: 39,707,086 (GRCm39)	Y138*	probably null	Het
Orm1	T	A	4: 63,262,949 (GRCm39)	W39R	probably damaging	Het
Pds5b	A	T	5: 150,724,142 (GRCm39)	K1240*	probably null	Het
Pdss1	T	A	2: 22,802,681 (GRCm39)	H173Q	probably damaging	Het
Pebp1	A	G	5: 117,423,882 (GRCm39)	W84R	probably damaging	Het
Pla2g4e	C	T	2: 120,001,759 (GRCm39)	C630Y	probably damaging	Het
Plaat3	T	A	19: 7,556,550 (GRCm39)	V117E	probably damaging	Het
Plekho2	G	T	9: 65,463,635 (GRCm39)	Q405K	probably benign	Het
Plppr2	T	A	9: 21,855,708 (GRCm39)	V227E	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,589 (GRCm39)	D229E	probably benign	Het
Rapgef4	T	C	2: 72,028,707 (GRCm39)	S393P	probably damaging	Het
Rapgefl1	A	G	11: 98,737,900 (GRCm39)		probably null	Het
Ripk3	C	A	14: 56,025,803 (GRCm39)	R19L	probably benign	Het
Rnase10	G	T	14: 51,247,167 (GRCm39)	V182F	probably damaging	Het
Rsf1	T	A	7: 97,319,002 (GRCm39)	S917R		Het
Sephs2	T	C	7: 126,872,187 (GRCm39)	N302S	possibly damaging	Het
Slc13a2	C	T	11: 78,289,950 (GRCm39)	V455M	possibly damaging	Het
Slc30a2	A	T	4: 134,071,429 (GRCm39)	D54V	probably benign	Het
Slco6c1	T	C	1: 97,047,706 (GRCm39)	E199G	possibly damaging	Het
Spag4	T	A	2: 155,908,519 (GRCm39)	S150T	probably benign	Het
Spon1	T	A	7: 113,635,945 (GRCm39)	C720S	probably damaging	Het
Tbc1d22a	T	C	15: 86,123,356 (GRCm39)	S166P	probably benign	Het
Tbc1d9	T	C	8: 83,937,113 (GRCm39)	I65T	probably damaging	Het
Tmem176a	T	A	6: 48,820,953 (GRCm39)	V141D	probably damaging	Het
Tmem268	G	A	4: 63,480,687 (GRCm39)		probably benign	Het
Tonsl	A	G	15: 76,518,976 (GRCm39)	V519A	probably benign	Het
Ttn	G	A	2: 76,612,376 (GRCm39)	P17204S	possibly damaging	Het
Wrap53	T	A	11: 69,454,694 (GRCm39)	D225V	probably benign	Het
Zfhx4	G	A	3: 5,477,107 (GRCm39)	A3241T	possibly damaging	Het
Zfp1002	T	C	2: 150,097,372 (GRCm39)	H47R	probably damaging	Het
Znfx1	T	C	2: 166,898,697 (GRCm39)	R76G	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
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
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'- ACCTGGTTCTAGGTATTAAAGGG -3'
(R):5'- AGGTTATAGTTGCCTGCTGC -3'

Sequencing Primer
(F):5'- TCTAGGTATTAAAGGGTAGATACGC -3'
(R):5'- AGCTGACCTTGAACTTGCAG -3'

Posted On

2019-05-15