Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:Snx25'

533114

Institutional Source

Beutler Lab

Gene Symbol

Snx25

Ensembl Gene

ENSMUSG00000038291

Gene Name

sorting nexin 25

Synonyms

LOC382008, SBBI31

MMRRC Submission

044911-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6798 (G1)

Quality Score

119.008

Status

Validated

Chromosome

Chromosomal Location

46486298-46605196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46486810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 977 (H977R)

Ref Sequence

ENSEMBL: ENSMUSP00000106007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110378] [ENSMUST00000110381] [ENSMUST00000170416]

AlphaFold

Q3ZT31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041582
AA Change: H831R

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291
AA Change: H831R

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 damaging
Transcript: ENSMUST00000110378
AA Change: H977R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291
AA Change: H977R

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 benign
Transcript: ENSMUST00000110381

SMART Domains

Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART
SEL1	172	205	6.3e-3	SMART
SEL1	206	241	3.9e-8	SMART
Blast:SEL1	242	272	1e-5	BLAST
SEL1	296	331	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132341

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170416
AA Change: H831R

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291
AA Change: H831R

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: ENSMUST00000177186

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,782,364 (GRCm39)	Y916H	probably damaging	Het
Adam11	A	G	11: 102,667,834 (GRCm39)	I740V	probably damaging	Het
Adam22	A	T	5: 8,210,784 (GRCm39)	D161E	probably damaging	Het
Agap3	A	G	5: 24,703,280 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,913 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,396,423 (GRCm39)	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,917,196 (GRCm39)		probably null	Het
BC048507	A	C	13: 68,011,683 (GRCm39)	D20A	probably benign	Het
Cacna1a	G	A	8: 85,338,231 (GRCm39)	A1704T	probably damaging	Het
Cep152	A	C	2: 125,408,447 (GRCm39)		probably null	Het
Cep19	T	C	16: 31,922,867 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,625,859 (GRCm39)	T813A	probably benign	Het
Chd9	A	T	8: 91,778,182 (GRCm39)	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,553,056 (GRCm39)	L139P	probably damaging	Het
Cit	A	G	5: 116,064,585 (GRCm39)	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,378,734 (GRCm39)	N720D	probably damaging	Het
Col6a3	T	C	1: 90,722,731 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,255,593 (GRCm39)	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,614,751 (GRCm39)	I64T	probably damaging	Het
Eif2b3	G	T	4: 116,923,655 (GRCm39)	W290L	probably benign	Het
Epha6	T	G	16: 60,425,427 (GRCm39)	E62A	possibly damaging	Het
Epha6	C	T	16: 60,425,428 (GRCm39)	E62K	possibly damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw17	C	A	13: 50,587,300 (GRCm39)		probably null	Het
Fndc8	C	T	11: 82,783,217 (GRCm39)	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850 (GRCm39)	T1224A	probably benign	Het
Gcm2	T	C	13: 41,259,361 (GRCm39)	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,779,296 (GRCm39)	D59G	probably benign	Het
Gorasp1	T	C	9: 119,758,663 (GRCm39)	D243G	probably benign	Het
Gtsf1l	T	C	2: 162,929,391 (GRCm39)	K31E	probably benign	Het
Heatr5a	A	G	12: 51,928,048 (GRCm39)	V1816A	probably benign	Het
Il10ra	T	C	9: 45,167,730 (GRCm39)	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,404,400 (GRCm39)	I507T	probably damaging	Het
Jak3	T	G	8: 72,133,615 (GRCm39)	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,222,012 (GRCm39)	T484A	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Map9	T	G	3: 82,287,471 (GRCm39)	L31W	probably damaging	Het
Mical2	T	C	7: 111,975,266 (GRCm39)		probably benign	Het
Mt1	A	G	8: 94,906,516 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,909,252 (GRCm39)	I1964V	probably damaging	Het
Nalf1	G	A	8: 9,820,205 (GRCm39)	Q272*	probably null	Het
Nod1	A	T	6: 54,921,596 (GRCm39)	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,937,378 (GRCm39)	D685V	probably damaging	Het
Oog1	A	T	12: 87,655,609 (GRCm39)		probably null	Het
Or11a4	T	G	17: 37,536,697 (GRCm39)	L227R	probably damaging	Het
Or2ag13	T	C	7: 106,313,402 (GRCm39)	Y162C	probably damaging	Het
Or4k2	A	G	14: 50,424,584 (GRCm39)	V30A	probably benign	Het
Or56b1b	T	A	7: 108,164,967 (GRCm39)	K12*	probably null	Het
P4htm	T	A	9: 108,460,117 (GRCm39)	N219I	possibly damaging	Het
Pcif1	T	C	2: 164,727,711 (GRCm39)	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,795,850 (GRCm39)	V46A	probably benign	Het
Pias1	T	C	9: 62,799,451 (GRCm39)	T480A	probably benign	Het
Prkd2	A	T	7: 16,583,128 (GRCm39)	K297*	probably null	Het
Prl7d1	T	A	13: 27,893,380 (GRCm39)		probably null	Het
Pxdc1	G	T	13: 34,836,408 (GRCm39)	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,006,320 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,730,759 (GRCm39)	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,412,406 (GRCm39)	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Setd4	C	A	16: 93,386,841 (GRCm39)	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,137,968 (GRCm39)	S536P	probably benign	Het
Spint5	T	A	2: 164,559,060 (GRCm39)	C95*	probably null	Het
Sprr5	G	C	3: 92,440,243 (GRCm39)	C65W	unknown	Het
Srgap1	T	C	10: 121,761,809 (GRCm39)	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,691,180 (GRCm39)	S476T	probably benign	Het
Tg	A	G	15: 66,550,688 (GRCm39)	T273A	probably damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trappc10	A	G	10: 78,024,665 (GRCm39)	Y1155H	probably benign	Het
Trpm2	T	A	10: 77,750,574 (GRCm39)	N1341Y	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,411,236 (GRCm39)	K67T	probably benign	Het
Zfand4	A	C	6: 116,305,214 (GRCm39)	K214Q	probably benign	Het
Zfp653	A	T	9: 21,968,668 (GRCm39)	V465E	probably damaging	Het
Zswim8	A	G	14: 20,766,060 (GRCm39)	Y782C	probably damaging	Het

Other mutations in Snx25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Snx25	APN	8	46,491,513 (GRCm39)	missense	probably damaging	1.00
IGL01432:Snx25	APN	8	46,558,197 (GRCm39)	missense	probably damaging	0.96
IGL01600:Snx25	APN	8	46,569,347 (GRCm39)	missense	probably benign	0.00
IGL02150:Snx25	APN	8	46,569,318 (GRCm39)	missense	possibly damaging	0.89
IGL02386:Snx25	APN	8	46,494,386 (GRCm39)	missense	possibly damaging	0.93
IGL02691:Snx25	APN	8	46,558,302 (GRCm39)	missense	possibly damaging	0.88
IGL03338:Snx25	APN	8	46,498,247 (GRCm39)	missense	probably benign	0.04
IGL03377:Snx25	APN	8	46,533,338 (GRCm39)	unclassified	probably benign
duo	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R0047:Snx25	UTSW	8	46,494,402 (GRCm39)	missense	probably damaging	0.99
R0047:Snx25	UTSW	8	46,494,402 (GRCm39)	missense	probably damaging	0.99
R0048:Snx25	UTSW	8	46,558,146 (GRCm39)	splice site	probably benign
R0048:Snx25	UTSW	8	46,558,146 (GRCm39)	splice site	probably benign
R0056:Snx25	UTSW	8	46,491,550 (GRCm39)	missense	probably damaging	1.00
R0546:Snx25	UTSW	8	46,556,667 (GRCm39)	missense	probably benign	0.00
R0791:Snx25	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R1165:Snx25	UTSW	8	46,488,752 (GRCm39)	missense	probably damaging	0.99
R1255:Snx25	UTSW	8	46,569,275 (GRCm39)	missense	probably benign	0.13
R1262:Snx25	UTSW	8	46,558,328 (GRCm39)	missense	probably damaging	0.98
R1522:Snx25	UTSW	8	46,577,119 (GRCm39)	start codon destroyed	probably null	0.88
R1652:Snx25	UTSW	8	46,502,510 (GRCm39)	missense	probably damaging	0.99
R1710:Snx25	UTSW	8	46,569,244 (GRCm39)	missense	possibly damaging	0.69
R1829:Snx25	UTSW	8	46,488,669 (GRCm39)	missense	possibly damaging	0.82
R2090:Snx25	UTSW	8	46,509,150 (GRCm39)	missense	probably damaging	1.00
R2158:Snx25	UTSW	8	46,494,444 (GRCm39)	missense	probably damaging	1.00
R2906:Snx25	UTSW	8	46,502,560 (GRCm39)	splice site	probably null
R4244:Snx25	UTSW	8	46,558,291 (GRCm39)	missense	probably damaging	0.98
R4394:Snx25	UTSW	8	46,488,715 (GRCm39)	missense	probably damaging	1.00
R4465:Snx25	UTSW	8	46,521,266 (GRCm39)	missense	possibly damaging	0.78
R4586:Snx25	UTSW	8	46,569,474 (GRCm39)	intron	probably benign
R4663:Snx25	UTSW	8	46,488,616 (GRCm39)	missense	probably damaging	1.00
R4961:Snx25	UTSW	8	46,521,229 (GRCm39)	missense	probably damaging	0.99
R5104:Snx25	UTSW	8	46,521,203 (GRCm39)	makesense	probably null
R5634:Snx25	UTSW	8	46,494,428 (GRCm39)	missense	possibly damaging	0.94
R6128:Snx25	UTSW	8	46,558,240 (GRCm39)	missense	probably benign	0.01
R6344:Snx25	UTSW	8	46,488,675 (GRCm39)	nonsense	probably null
R6382:Snx25	UTSW	8	46,509,028 (GRCm39)	missense	probably benign
R6523:Snx25	UTSW	8	46,508,892 (GRCm39)	missense	probably damaging	0.96
R7143:Snx25	UTSW	8	46,488,752 (GRCm39)	missense	possibly damaging	0.92
R7147:Snx25	UTSW	8	46,558,233 (GRCm39)	missense	probably damaging	0.98
R7519:Snx25	UTSW	8	46,569,309 (GRCm39)	missense	probably damaging	1.00
R7723:Snx25	UTSW	8	46,491,516 (GRCm39)	missense	probably damaging	1.00
R9084:Snx25	UTSW	8	46,521,203 (GRCm39)	makesense	probably null
R9519:Snx25	UTSW	8	46,486,783 (GRCm39)	missense	probably damaging	1.00
RF002:Snx25	UTSW	8	46,569,218 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCACTTCACGTACAGCTAG -3'
(R):5'- ATATAACGTGGCAGGCGATTGG -3'

Sequencing Primer
(F):5'- CACTTCACGTACAGCTAGAGGGAG -3'
(R):5'- TCTCCTAGCATGGGATAAATCAGG -3'

Posted On

2018-08-29