Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Snx25'

602564

Institutional Source

Beutler Lab

Gene Symbol

Snx25

Ensembl Gene

ENSMUSG00000038291

Gene Name

sorting nexin 25

Synonyms

LOC382008, SBBI31

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46033261-46152159 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 46116181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110377] [ENSMUST00000110378] [ENSMUST00000170416]

AlphaFold

Q3ZT31

Predicted Effect

probably null
Transcript: ENSMUST00000041582

SMART Domains

Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291

Domain	Start	End	E-Value	Type
Pfam:PXA	1	163	9e-32	PFAM
RGS	287	401	6.62e-10	SMART
low complexity region	421	438	N/A	INTRINSIC
PX	512	624	1.38e-10	SMART
low complexity region	658	663	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Nexin_C	701	808	1.7e-35	PFAM
low complexity region	812	828	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110377

SMART Domains

Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291

Domain	Start	End	E-Value	Type
Pfam:PXA	1	138	5.8e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110378

SMART Domains

Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
Pfam:PXA	145	306	8.7e-30	PFAM
RGS	433	547	6.62e-10	SMART
low complexity region	567	584	N/A	INTRINSIC
PX	658	770	1.38e-10	SMART
low complexity region	804	809	N/A	INTRINSIC
low complexity region	810	822	N/A	INTRINSIC
Pfam:Nexin_C	847	953	1e-28	PFAM
low complexity region	958	974	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170416

SMART Domains

Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291

Domain	Start	End	E-Value	Type
Pfam:PXA	1	163	9e-32	PFAM
RGS	287	401	6.62e-10	SMART
low complexity region	421	438	N/A	INTRINSIC
PX	512	624	1.38e-10	SMART
low complexity region	658	663	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Nexin_C	701	808	1.7e-35	PFAM
low complexity region	812	828	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Snx25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Snx25	APN	8	46038476	missense	probably damaging	1.00
IGL01432:Snx25	APN	8	46105160	missense	probably damaging	0.96
IGL01600:Snx25	APN	8	46116310	missense	probably benign	0.00
IGL02150:Snx25	APN	8	46116281	missense	possibly damaging	0.89
IGL02386:Snx25	APN	8	46041349	missense	possibly damaging	0.93
IGL02691:Snx25	APN	8	46105265	missense	possibly damaging	0.88
IGL03338:Snx25	APN	8	46045210	missense	probably benign	0.04
IGL03377:Snx25	APN	8	46080301	unclassified	probably benign
duo	UTSW	8	46124082	start codon destroyed	probably null	0.88
R0047:Snx25	UTSW	8	46041365	missense	probably damaging	0.99
R0047:Snx25	UTSW	8	46041365	missense	probably damaging	0.99
R0048:Snx25	UTSW	8	46105109	splice site	probably benign
R0048:Snx25	UTSW	8	46105109	splice site	probably benign
R0056:Snx25	UTSW	8	46038513	missense	probably damaging	1.00
R0546:Snx25	UTSW	8	46103630	missense	probably benign	0.00
R0791:Snx25	UTSW	8	46124082	start codon destroyed	probably null	0.88
R1165:Snx25	UTSW	8	46035715	missense	probably damaging	0.99
R1255:Snx25	UTSW	8	46116238	missense	probably benign	0.13
R1262:Snx25	UTSW	8	46105291	missense	probably damaging	0.98
R1522:Snx25	UTSW	8	46124082	start codon destroyed	probably null	0.88
R1652:Snx25	UTSW	8	46049473	missense	probably damaging	0.99
R1710:Snx25	UTSW	8	46116207	missense	possibly damaging	0.69
R1829:Snx25	UTSW	8	46035632	missense	possibly damaging	0.82
R2090:Snx25	UTSW	8	46056113	missense	probably damaging	1.00
R2158:Snx25	UTSW	8	46041407	missense	probably damaging	1.00
R2906:Snx25	UTSW	8	46049523	splice site	probably null
R4244:Snx25	UTSW	8	46105254	missense	probably damaging	0.98
R4394:Snx25	UTSW	8	46035678	missense	probably damaging	1.00
R4465:Snx25	UTSW	8	46068229	missense	possibly damaging	0.78
R4586:Snx25	UTSW	8	46116437	intron	probably benign
R4663:Snx25	UTSW	8	46035579	missense	probably damaging	1.00
R4961:Snx25	UTSW	8	46068192	missense	probably damaging	0.99
R5104:Snx25	UTSW	8	46068166	makesense	probably null
R5634:Snx25	UTSW	8	46041391	missense	possibly damaging	0.94
R6128:Snx25	UTSW	8	46105203	missense	probably benign	0.01
R6344:Snx25	UTSW	8	46035638	nonsense	probably null
R6382:Snx25	UTSW	8	46055991	missense	probably benign
R6523:Snx25	UTSW	8	46055855	missense	probably damaging	0.96
R6798:Snx25	UTSW	8	46033773	missense	probably damaging	0.98
R7143:Snx25	UTSW	8	46035715	missense	possibly damaging	0.92
R7147:Snx25	UTSW	8	46105196	missense	probably damaging	0.98
R7519:Snx25	UTSW	8	46116272	missense	probably damaging	1.00
R7723:Snx25	UTSW	8	46038479	missense	probably damaging	1.00
R9084:Snx25	UTSW	8	46068166	makesense	probably null
R9519:Snx25	UTSW	8	46033746	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGCAGGCAAACCATTC -3'
(R):5'- GAACCTCAGCAGAGATGACG -3'

Sequencing Primer
(F):5'- AGCGTGAGTATGCTTAACCC -3'
(R):5'- GATGACGGACAGCTCTACCATCTG -3'

Posted On

2019-12-04