Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Snx29'

284514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx29

Ensembl Gene

ENSMUSG00000071669

Gene Name

sorting nexin 29

Synonyms

4933437K13Rik, LOC381035, LOC385605, Gm11170, Rundc2a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

11322908-11755472 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11738352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 407 (M407R)

Ref Sequence

ENSEMBL: ENSMUSP00000093993 (fasta)

Gene Model

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

AlphaFold

Q9D3S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096273
AA Change: M407R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: M407R

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: M749R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: M749R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	T	2: 132,691,946		probably benign	Het
Adamtsl2	A	G	2: 27,102,981	E702G	probably damaging	Het
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581		probably null	Het
Chrnb4	T	C	9: 55,035,216	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792		probably null	Het
Commd3	T	C	2: 18,674,008		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748		probably benign	Het
Fat4	T	C	3: 38,951,263	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119		probably null	Het
Flg2	A	T	3: 93,220,128	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244		probably null	Het
Ift140	A	G	17: 25,055,598	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702		probably null	Het
Kif18a	A	T	2: 109,296,707	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435	V1768G	probably damaging	Het
Nek9	A	T	12: 85,303,483	L939*	probably null	Het
Nfe2l2	A	G	2: 75,678,525	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,130,931	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678		probably null	Het
Plcb1	A	G	2: 135,387,171	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,718,885	D394G	possibly damaging	Het
Syf2	A	G	4: 134,935,052		probably null	Het
Syn1	T	C	X: 20,865,137	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785		probably benign	Het
Trav6-2	G	A	14: 52,667,432	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465		probably null	Het

Other mutations in Snx29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Snx29	APN	16	11403502	missense	probably damaging	0.97
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
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

Posted On

2015-04-16