Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Snx29'

161100

Institutional Source

Beutler Lab

Gene Symbol

Snx29

Ensembl Gene

ENSMUSG00000071669

Gene Name

sorting nexin 29

Synonyms

4933437K13Rik, LOC381035, LOC385605, Gm11170, Rundc2a

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1452 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

11322908-11755472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11631471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 260 (H260L)

Ref Sequence

ENSEMBL: ENSMUSP00000093993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096273] [ENSMUST00000122168] [ENSMUST00000150993] [ENSMUST00000180792]

AlphaFold

Q9D3S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096273
AA Change: H260L

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

SMART Domains

Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: H260L

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 benign
Transcript: ENSMUST00000122168
AA Change: H245L

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: H245L

Domain	Start	End	E-Value	Type
low complexity region	88	105	N/A	INTRINSIC
coiled coil region	110	191	N/A	INTRINSIC
Blast:PX	301	326	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134941

Predicted Effect

probably damaging
Transcript: ENSMUST00000150993
AA Change: H158L

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

SMART Domains

Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
AA Change: H158L

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
coiled coil region	23	104	N/A	INTRINSIC
Blast:PX	217	245	3e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151478

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180792
AA Change: H602L

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: H602L

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

0.4302

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	T	C	1: 93,152,939	Y415C	probably damaging	Het
2810474O19Rik	A	T	6: 149,326,632	K392I	probably damaging	Het
A2m	A	G	6: 121,678,056	I1446M	probably benign	Het
Acaca	T	A	11: 84,295,059		probably benign	Het
Adgre4	A	T	17: 55,784,996	E85D	probably benign	Het
Akt3	A	T	1: 177,131,067	Y26N	possibly damaging	Het
Arl15	T	C	13: 113,967,783	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,098,137		probably benign	Het
Atrip	T	A	9: 109,072,659	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,282,239		probably benign	Het
Cd53	C	T	3: 106,768,959	G31S	probably damaging	Het
Cdk14	T	C	5: 4,888,927	S404G	possibly damaging	Het
Cers3	A	T	7: 66,783,404	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,504,153	L448M	probably damaging	Het
Cox15	G	T	19: 43,746,905	T141K	probably damaging	Het
Csnk2a2	C	T	8: 95,457,375		probably benign	Het
Cyp2b10	A	T	7: 25,925,388		probably benign	Het
Cyp2c55	A	G	19: 39,011,090	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,526,691	Y693C	possibly damaging	Het
Des	T	C	1: 75,363,477	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,249,863		probably benign	Het
Eif3m	T	A	2: 105,006,777	Q199L	probably damaging	Het
Emsy	G	T	7: 98,600,674	T802K	probably damaging	Het
Endov	A	G	11: 119,491,825	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,549,166	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,318,402	I363V	probably benign	Het
Gm8674	C	T	13: 49,900,517		noncoding transcript	Het
Gm9733	G	T	3: 15,332,152	T24K	unknown	Het
Il6st	T	A	13: 112,481,464	N137K	possibly damaging	Het
Inf2	A	G	12: 112,601,344	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,559	I376N	probably benign	Het
Kansl3	A	G	1: 36,354,793		probably benign	Het
Kbtbd2	A	T	6: 56,781,924	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,453,327	Y140*	probably null	Het
Macf1	T	A	4: 123,493,998	I924L	probably benign	Het
Mcoln2	A	T	3: 146,181,814	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,381,520	L621Q	probably damaging	Het
Mut	A	G	17: 40,937,468		probably benign	Het
Ncor1	T	C	11: 62,334,631	H1038R	probably damaging	Het
Neb	A	G	2: 52,271,297		probably null	Het
Ngrn	A	G	7: 80,264,772	T224A	probably benign	Het
Nin	G	A	12: 70,017,650	R2019*	probably null	Het
Nphp4	C	G	4: 152,547,018	Q792E	probably damaging	Het
Olfr1047	T	A	2: 86,228,455	N172I	probably damaging	Het
Olfr1166	C	T	2: 88,124,311	V225I	probably benign	Het
Olfr140	C	T	2: 90,051,671	V218I	possibly damaging	Het
Olfr373	C	T	8: 72,100,176	Q139*	probably null	Het
Olfr70	C	T	4: 43,696,823	V117M	probably benign	Het
Pde4dip	C	A	3: 97,724,102	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067		probably benign	Het
Pole2	G	A	12: 69,207,929	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,469,536		probably benign	Het
Prim2	T	A	1: 33,630,404	E163D	probably benign	Het
Prrc2b	A	T	2: 32,194,985	D296V	probably damaging	Het
Pter	A	G	2: 12,978,621		probably benign	Het
Robo2	C	A	16: 73,961,910	V662L	probably damaging	Het
Slco1b2	A	T	6: 141,672,200	I424F	probably benign	Het
Stil	A	G	4: 115,039,195	N959S	probably benign	Het
Taar8c	A	T	10: 24,101,610	D101E	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,147	M573I	probably damaging	Het
Tsr1	A	T	11: 74,899,599	D171V	probably benign	Het
Ube4b	T	C	4: 149,371,169	T348A	probably damaging	Het
Vmn1r85	A	T	7: 13,084,881	I112N	probably damaging	Het
Vps36	A	G	8: 22,218,210		probably null	Het
Wdfy3	G	A	5: 101,937,738	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,876,800	D14E	probably null	Het
Ylpm1	T	C	12: 85,030,383	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,955,075	F378L	probably benign	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
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
R5207:Snx29	UTSW	16	11738363	missense	probably damaging	1.00
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'- AGCTGGGACATCATCATCACCATTG -3'
(R):5'- GAATGCGCCTGTATGACAAGCAC -3'

Sequencing Primer
(F):5'- gcagtcacgctaccacttatc -3'
(R):5'- CATGACTCTCTAATGATACAGTCTGC -3'

Posted On

2014-03-14