Mutagenetix > Incidental Mutation

Incidental Mutation 'R9272:Snx32'

703057

Institutional Source

Beutler Lab

Gene Symbol

Snx32

Ensembl Gene

ENSMUSG00000056185

Gene Name

sorting nexin 32

Synonyms

B930037P14Rik, Snx6b

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R9272 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

5545302-5560741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5548485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 65 (H65L)

Ref Sequence

ENSEMBL: ENSMUSP00000070915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000116560] [ENSMUST00000189704] [ENSMUST00000209469]

AlphaFold

Q80ZJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070172
AA Change: H65L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185
AA Change: H65L

Domain	Start	End	E-Value	Type
Pfam:PX	24	165	1.4e-19	PFAM
Pfam:Vps5	183	394	9.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116560

SMART Domains

Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201

Domain	Start	End	E-Value	Type
ADF	19	154	5.3e-56	SMART
low complexity region	195	205	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189704

SMART Domains

Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937

Domain	Start	End	E-Value	Type
Pfam:MAGE	82	253	2.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209469

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	G	6: 146,854,499 (GRCm39)	V181A	probably damaging	Het
Abca16	T	A	7: 120,076,993 (GRCm39)	D686E	probably benign	Het
Abca8a	C	A	11: 109,953,908 (GRCm39)	C844F	probably damaging	Het
Acd	G	A	8: 106,424,952 (GRCm39)	P396L	probably damaging	Het
Adamtsl3	A	G	7: 82,189,753 (GRCm39)	Y659C	probably damaging	Het
Ankfn1	C	T	11: 89,413,875 (GRCm39)	V167M	probably benign	Het
Ankrd13c	T	A	3: 157,700,358 (GRCm39)	L393Q	possibly damaging	Het
Arid1b	G	A	17: 5,386,879 (GRCm39)	G1391D	possibly damaging	Het
Arid5b	T	A	10: 67,937,882 (GRCm39)	D415V	probably damaging	Het
Arl13b	G	T	16: 62,647,774 (GRCm39)	H45N	probably benign	Het
Atp13a4	A	T	16: 29,268,797 (GRCm39)	I519N		Het
Atrnl1	T	C	19: 57,643,420 (GRCm39)	I436T	probably benign	Het
Bbx	A	G	16: 50,022,935 (GRCm39)	I675T	probably damaging	Het
Bcas1	A	T	2: 170,190,040 (GRCm39)	V619E	probably damaging	Het
Cad	T	C	5: 31,218,576 (GRCm39)	V501A	possibly damaging	Het
Car8	T	A	4: 8,169,686 (GRCm39)	N274I	probably damaging	Het
Ccdc3	A	G	2: 5,146,143 (GRCm39)	Q159R	probably damaging	Het
Ccdc7b	A	T	8: 129,893,459 (GRCm39)	E95D	possibly damaging	Het
Cdh12	G	T	15: 21,492,801 (GRCm39)		probably benign	Het
Col11a1	G	T	3: 113,901,948 (GRCm39)	G548*	probably null	Het
Cpb2	A	G	14: 75,520,803 (GRCm39)	E406G	probably damaging	Het
Crocc	T	C	4: 140,747,132 (GRCm39)	S1723G	probably benign	Het
Ctu2	T	C	8: 123,206,045 (GRCm39)	V262A	probably benign	Het
Dmxl2	A	T	9: 54,311,404 (GRCm39)	N1772K	possibly damaging	Het
Dock3	A	T	9: 106,774,569 (GRCm39)	M62K	probably benign	Het
Dok7	G	A	5: 35,214,239 (GRCm39)		probably benign	Het
E2f3	A	G	13: 30,102,629 (GRCm39)	Y211H	probably damaging	Het
Elapor2	T	C	5: 9,460,699 (GRCm39)	Y207H	probably damaging	Het
Fam53c	T	A	18: 34,895,774 (GRCm39)	S25R	probably damaging	Het
Fhod3	T	G	18: 25,030,681 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,180,033 (GRCm39)	Y623H	unknown	Het
Ggt1	A	T	10: 75,421,749 (GRCm39)	H532L	probably benign	Het
Gm10775	A	C	13: 65,407,770 (GRCm39)	T24P	unknown	Het
Hinfp	A	G	9: 44,213,872 (GRCm39)	S2P	probably benign	Het
Hs3st4	A	G	7: 123,582,749 (GRCm39)	T116A	probably benign	Het
Ighv5-9-1	A	T	12: 113,699,818 (GRCm39)	I98N	probably damaging	Het
Ipo11	A	T	13: 107,046,713 (GRCm39)	Y171N	probably benign	Het
Jph1	C	A	1: 17,161,838 (GRCm39)	A275S	probably damaging	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kcnh7	A	T	2: 62,618,097 (GRCm39)	I464K	probably damaging	Het
Lrp8	C	A	4: 107,717,158 (GRCm39)	P603T	probably benign	Het
Man1c1	C	A	4: 134,291,118 (GRCm39)	D593Y	probably damaging	Het
Mdm4	A	T	1: 132,929,169 (GRCm39)	I176K	possibly damaging	Het
Mpo	T	C	11: 87,686,693 (GRCm39)	V139A	probably benign	Het
Niban3	A	C	8: 72,055,520 (GRCm39)	D310A	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1f12	A	G	13: 21,721,864 (GRCm39)	S89P	possibly damaging	Het
Or4k51	G	A	2: 111,584,965 (GRCm39)	V124M	probably damaging	Het
Or9g4b	A	T	2: 85,616,088 (GRCm39)	I78L	probably benign	Het
Pcdh7	A	G	5: 57,878,779 (GRCm39)	D778G	possibly damaging	Het
Pcdhb12	T	C	18: 37,570,675 (GRCm39)	F607S	probably damaging	Het
Pcolce	A	G	5: 137,606,333 (GRCm39)	F157L	probably benign	Het
Pogk	T	C	1: 166,226,780 (GRCm39)	Y457C	probably damaging	Het
Ppp1r21	G	A	17: 88,866,086 (GRCm39)	E323K	possibly damaging	Het
Prkn	T	A	17: 11,456,527 (GRCm39)	V117E	probably damaging	Het
Prr12	A	C	7: 44,692,811 (GRCm39)	F1574V	probably damaging	Het
Rasl2-9	A	T	7: 5,128,448 (GRCm39)	F161I	probably damaging	Het
Rb1	A	G	14: 73,517,602 (GRCm39)	I268T	possibly damaging	Het
Rin3	A	T	12: 102,335,691 (GRCm39)	D534V	probably damaging	Het
Scn5a	C	T	9: 119,315,717 (GRCm39)	G1664S	probably damaging	Het
Sin3b	T	C	8: 73,471,168 (GRCm39)	S372P	probably benign	Het
Spidr	T	A	16: 15,855,544 (GRCm39)	I324F	probably damaging	Het
Stab1	A	T	14: 30,867,298 (GRCm39)	F1687L	probably benign	Het
Taar6	T	C	10: 23,860,903 (GRCm39)	I214M	probably benign	Het
Vmn2r105	T	A	17: 20,447,685 (GRCm39)	N380Y	probably damaging	Het

Other mutations in Snx32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Snx32	APN	19	5,547,764 (GRCm39)	missense	possibly damaging	0.82
IGL03389:Snx32	APN	19	5,546,082 (GRCm39)	unclassified	probably benign
R1547:Snx32	UTSW	19	5,547,339 (GRCm39)	missense	possibly damaging	0.48
R1739:Snx32	UTSW	19	5,546,139 (GRCm39)	missense	probably benign	0.00
R2138:Snx32	UTSW	19	5,546,157 (GRCm39)	missense	probably damaging	1.00
R5865:Snx32	UTSW	19	5,546,382 (GRCm39)	missense	probably benign	0.05
R6106:Snx32	UTSW	19	5,548,042 (GRCm39)	missense	probably benign	0.00
R6755:Snx32	UTSW	19	5,560,372 (GRCm39)	missense	probably benign
R7075:Snx32	UTSW	19	5,547,018 (GRCm39)	missense	probably damaging	1.00
R9487:Snx32	UTSW	19	5,547,736 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATTCTTCCCGGGTGATGGAG -3'
(R):5'- CCTTAGAAAGCATCGTCCCC -3'

Sequencing Primer
(F):5'- TTGAAGCCTCAAAGTCTGGC -3'
(R):5'- CCCGAGTGCTGGTTGTCTC -3'

Posted On

2022-03-25