Mutagenetix > Incidental Mutation

Incidental Mutation 'R5207:Snx29'

402111

Institutional Source

Beutler Lab

Gene Symbol

Snx29

Ensembl Gene

ENSMUSG00000071669

Gene Name

sorting nexin 29

Synonyms

4933437K13Rik, LOC381035, LOC385605, Gm11170, Rundc2a

MMRRC Submission

042782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11322908-11755472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11738363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 753 (I753F)

Ref Sequence

ENSEMBL: ENSMUSP00000138025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096273] [ENSMUST00000180792]

AlphaFold

Q9D3S3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096273
AA Change: I411F

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: I411F

Domain	Start	End	E-Value	Type
low complexity region	103	120	N/A	INTRINSIC
coiled coil region	125	206	N/A	INTRINSIC
PX	319	422	3.13e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180792
AA Change: I753F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: I753F

Domain	Start	End	E-Value	Type
low complexity region	64	74	N/A	INTRINSIC
RUN	115	178	7.89e-26	SMART
internal_repeat_1	192	211	2.63e-5	PROSPERO
internal_repeat_1	203	222	2.63e-5	PROSPERO
low complexity region	252	262	N/A	INTRINSIC
low complexity region	270	275	N/A	INTRINSIC
low complexity region	314	323	N/A	INTRINSIC
low complexity region	445	462	N/A	INTRINSIC
coiled coil region	467	548	N/A	INTRINSIC
PX	661	764	3.13e-9	SMART

Meta Mutation Damage Score

0.2389

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	T	1: 179,793,594		probably benign	Het
Alg6	C	T	4: 99,719,194	L15F	possibly damaging	Het
Allc	T	A	12: 28,555,326	M325L	probably benign	Het
Ap3b2	T	C	7: 81,476,769	N361S	possibly damaging	Het
Bmp8b	A	G	4: 123,115,921		probably benign	Het
Borcs6	A	T	11: 69,060,848	T351S	probably damaging	Het
Casc1	A	T	6: 145,179,068	D510E	probably damaging	Het
Ccar1	T	C	10: 62,753,281	R808G	unknown	Het
Celsr3	A	T	9: 108,832,759	T1480S	probably benign	Het
Chdh	C	T	14: 30,031,361	P76S	probably damaging	Het
Chmp7	T	C	14: 69,732,306	S62G	probably benign	Het
Cldn23	A	T	8: 35,826,028	V102E	probably damaging	Het
Csn2	G	A	5: 87,694,962	Q69*	probably null	Het
Ctrc	A	C	4: 141,840,384	I136S	probably damaging	Het
Cysltr2	A	C	14: 73,029,511	L253R	probably damaging	Het
Ddr2	G	A	1: 169,984,961	T654M	probably damaging	Het
Derl2	G	T	11: 71,019,247		probably null	Het
Dock5	T	C	14: 67,776,284	S1330G	probably benign	Het
Emp3	T	C	7: 45,919,949	N56S	probably benign	Het
Fam161a	A	T	11: 23,020,583	K195*	probably null	Het
Fam71b	T	C	11: 46,405,163	S121P	probably benign	Het
Ficd	T	A	5: 113,737,011	V47E	probably benign	Het
Gbp10	T	C	5: 105,224,709	T123A	probably benign	Het
Gdf7	C	T	12: 8,298,371	A309T	unknown	Het
Gm14486	G	T	2: 30,658,560		noncoding transcript	Het
Herc1	T	A	9: 66,399,869	C990*	probably null	Het
Itgb4	T	C	11: 116,006,539	V1530A	probably damaging	Het
Itpka	G	A	2: 119,750,493	R374H	probably damaging	Het
Lacc1	T	A	14: 77,034,154		probably null	Het
Med23	A	T	10: 24,895,836	K225*	probably null	Het
Mrgpra3	T	A	7: 47,590,161	T6S	probably benign	Het
Mroh7	T	A	4: 106,721,386	N32Y	probably damaging	Het
Mrps2	A	G	2: 28,469,751	R207G	probably damaging	Het
Mup20	A	C	4: 62,051,586		probably null	Het
Nagpa	A	G	16: 5,199,614		probably null	Het
Nek3	A	T	8: 22,132,227		probably benign	Het
Nes	G	A	3: 87,978,628	G1398E	probably damaging	Het
Nf1	G	T	11: 79,454,189	V1323L	probably damaging	Het
Olfr1416	A	T	1: 92,479,872	F250I	probably benign	Het
Olfr1446	T	A	19: 12,890,437	I47F	probably benign	Het
Olfr791	T	C	10: 129,526,904	F226L	probably benign	Het
Paqr8	G	T	1: 20,935,258	C212F	probably benign	Het
Pcdhb1	T	C	18: 37,266,462	Y489H	probably damaging	Het
Piwil2	T	C	14: 70,392,517	K683E	probably damaging	Het
Pjvk	A	C	2: 76,650,390		probably null	Het
Pkd1l3	A	T	8: 109,633,191	S893C	probably damaging	Het
Plxna2	A	G	1: 194,788,899	T993A	probably benign	Het
Ppp2r2b	A	T	18: 42,688,352	I247N	probably damaging	Het
Rac2	T	C	15: 78,565,454	N92S	probably damaging	Het
Senp2	A	T	16: 22,041,380	H501L	possibly damaging	Het
Tcf20	T	A	15: 82,856,185	H355L	probably damaging	Het
Tex2	T	C	11: 106,546,840	D668G	unknown	Het
Tlr12	G	A	4: 128,616,709	Q583*	probably null	Het
Tmem119	T	C	5: 113,795,228	I171V	probably damaging	Het
Ube2m	C	T	7: 13,036,322		probably null	Het
Vmn2r25	A	T	6: 123,840,103	I173N	probably damaging	Het
Whrn	A	T	4: 63,432,714	V15E	probably damaging	Het
Zfp558	A	C	9: 18,457,000	V164G	possibly damaging	Het

Other mutations in Snx29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Snx29	APN	16	11403502	missense	probably damaging	0.97
IGL02207:Snx29	APN	16	11738352	missense	probably damaging	1.00
PIT1430001:Snx29	UTSW	16	11403624	missense	probably benign	0.00
PIT4810001:Snx29	UTSW	16	11400981	missense	probably damaging	1.00
R0240:Snx29	UTSW	16	11660553	missense	probably damaging	1.00
R0240:Snx29	UTSW	16	11660553	missense	probably damaging	1.00
R0276:Snx29	UTSW	16	11738373	missense	probably benign	0.01
R0506:Snx29	UTSW	16	11395303	missense	probably benign	0.15
R0621:Snx29	UTSW	16	11405787	splice site	probably null
R0975:Snx29	UTSW	16	11347871	missense	possibly damaging	0.66
R1225:Snx29	UTSW	16	11420686	intron	probably benign
R1406:Snx29	UTSW	16	11399793	missense	probably benign	0.38
R1406:Snx29	UTSW	16	11399793	missense	probably benign	0.38
R1452:Snx29	UTSW	16	11631471	missense	probably damaging	1.00
R1515:Snx29	UTSW	16	11399837	critical splice donor site	probably null
R1874:Snx29	UTSW	16	11367681	missense	probably benign	0.01
R1953:Snx29	UTSW	16	11399783	nonsense	probably null
R1978:Snx29	UTSW	16	11367724	missense	probably benign	0.23
R2054:Snx29	UTSW	16	11631492	missense	probably damaging	1.00
R2105:Snx29	UTSW	16	11511034	missense	possibly damaging	0.72
R2128:Snx29	UTSW	16	11400971	missense	probably damaging	0.98
R2152:Snx29	UTSW	16	11400843	missense	possibly damaging	0.95
R2912:Snx29	UTSW	16	11447453	missense	probably damaging	0.99
R2913:Snx29	UTSW	16	11447453	missense	probably damaging	0.99
R2914:Snx29	UTSW	16	11447453	missense	probably damaging	0.99
R4468:Snx29	UTSW	16	11420701	splice site	probably null
R4469:Snx29	UTSW	16	11420701	splice site	probably null
R4612:Snx29	UTSW	16	11447495	missense	probably damaging	0.99
R4744:Snx29	UTSW	16	11349909	nonsense	probably null
R4798:Snx29	UTSW	16	11420736	missense	probably damaging	1.00
R5000:Snx29	UTSW	16	11403507	missense	probably damaging	0.99
R5165:Snx29	UTSW	16	11420775	missense	probably damaging	0.98
R5235:Snx29	UTSW	16	11413246	missense	possibly damaging	0.94
R5274:Snx29	UTSW	16	11738404	missense	probably damaging	1.00
R5277:Snx29	UTSW	16	11399824	missense	possibly damaging	0.82
R5462:Snx29	UTSW	16	11511012	missense	possibly damaging	0.89
R5655:Snx29	UTSW	16	11755321	missense	probably damaging	1.00
R6036:Snx29	UTSW	16	11738437	splice site	probably null
R6036:Snx29	UTSW	16	11738437	splice site	probably null
R6326:Snx29	UTSW	16	11403566	missense	probably benign
R6576:Snx29	UTSW	16	11715056	critical splice donor site	probably null
R7406:Snx29	UTSW	16	11755316	missense	probably damaging	1.00
R7552:Snx29	UTSW	16	11420785	critical splice donor site	probably null
R7555:Snx29	UTSW	16	11400942	missense	probably benign	0.02
R7736:Snx29	UTSW	16	11367724	missense	probably benign	0.23
R7962:Snx29	UTSW	16	11413357	critical splice donor site	probably null
R8101:Snx29	UTSW	16	11571716	missense	probably benign	0.16
R8415:Snx29	UTSW	16	11447427	missense	probably damaging	1.00
R8549:Snx29	UTSW	16	11715056	critical splice donor site	probably null
R9010:Snx29	UTSW	16	11631527	missense	probably benign	0.00
R9091:Snx29	UTSW	16	11395291	missense	probably benign	0.33
R9099:Snx29	UTSW	16	11660571	missense	probably damaging	1.00
R9176:Snx29	UTSW	16	11418864	missense	probably benign
R9258:Snx29	UTSW	16	11714935	missense	possibly damaging	0.78
R9270:Snx29	UTSW	16	11395291	missense	probably benign	0.33
R9672:Snx29	UTSW	16	11660651	missense	probably benign	0.00
R9778:Snx29	UTSW	16	11405745	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CATGCCACTCTCTACTGCAG -3'
(R):5'- TTAGCGTTTCAGCACCACC -3'

Sequencing Primer
(F):5'- AGCCCCTCTGCCAGTGTC -3'
(R):5'- GTTTCAGCACCACCGACAG -3'

Posted On

2016-07-22