Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Snx11'

530911

Institutional Source

Beutler Lab

Gene Symbol

Snx11

Ensembl Gene

ENSMUSG00000020876

Gene Name

sorting nexin 11

Synonyms

A930041K09Rik, 4933439F10Rik

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6753 (G1)

Quality Score

167.009

Status

Validated

Chromosome

Chromosomal Location

96658381-96668385 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 96660732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021246] [ENSMUST00000107661] [ENSMUST00000127375]

AlphaFold

Q91WL6

Predicted Effect

probably benign
Transcript: ENSMUST00000021246

SMART Domains

Protein: ENSMUSP00000021246
Gene: ENSMUSG00000020876

Domain	Start	End	E-Value	Type
PX	11	129	3.7e-20	SMART
low complexity region	185	196	N/A	INTRINSIC
low complexity region	213	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107661

SMART Domains

Protein: ENSMUSP00000103288
Gene: ENSMUSG00000020876

Domain	Start	End	E-Value	Type
PX	11	129	3.7e-20	SMART
low complexity region	185	196	N/A	INTRINSIC
low complexity region	213	230	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125025

Predicted Effect

unknown
Transcript: ENSMUST00000127375
AA Change: T193A

SMART Domains

Protein: ENSMUSP00000115789
Gene: ENSMUSG00000020876
AA Change: T193A

Domain	Start	End	E-Value	Type
PX	11	129	3.7e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132354

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably damaging	Het

Other mutations in Snx11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0918:Snx11	UTSW	11	96,660,104 (GRCm39)	missense	possibly damaging	0.92
R1282:Snx11	UTSW	11	96,663,987 (GRCm39)	missense	probably damaging	1.00
R1586:Snx11	UTSW	11	96,661,522 (GRCm39)	missense	probably benign	0.14
R4838:Snx11	UTSW	11	96,665,284 (GRCm39)	missense	possibly damaging	0.47
R5308:Snx11	UTSW	11	96,661,535 (GRCm39)	missense	probably damaging	1.00
R6898:Snx11	UTSW	11	96,659,888 (GRCm39)	missense	probably benign	0.23
R7092:Snx11	UTSW	11	96,663,665 (GRCm39)	missense	probably damaging	1.00
R7266:Snx11	UTSW	11	96,663,985 (GRCm39)	missense	probably damaging	1.00
R7836:Snx11	UTSW	11	96,660,032 (GRCm39)	missense	possibly damaging	0.89
R8022:Snx11	UTSW	11	96,663,680 (GRCm39)	missense	probably damaging	1.00
R8098:Snx11	UTSW	11	96,661,500 (GRCm39)	missense	probably benign	0.02
R8220:Snx11	UTSW	11	96,661,885 (GRCm39)	missense	probably damaging	1.00
R8248:Snx11	UTSW	11	96,660,759 (GRCm39)	missense	unknown
R9524:Snx11	UTSW	11	96,660,023 (GRCm39)	missense	probably benign	0.05
R9722:Snx11	UTSW	11	96,661,925 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCTTGGAAGAAAGCAGCAACTG -3'
(R):5'- GTACATCAGTGAGCAGCAGC -3'

Sequencing Primer
(F):5'- ATGGCGCATGTAATCCTAGC -3'
(R):5'- AGCTCTTGTTGCCCCTAGTAAC -3'

Posted On

2018-08-01