Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Snx29'

344878

Institutional Source

Beutler Lab

Gene Symbol

Snx29

Ensembl Gene

ENSMUSG00000071669

Gene Name

sorting nexin 29

Synonyms

Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11140772-11573336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11265359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 530 (Q530K)

Ref Sequence

ENSEMBL: ENSMUSP00000138025 (fasta)

Gene Model

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

AlphaFold

Q9D3S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000096273
AA Change: Q188K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: Q188K

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

possibly damaging
Transcript: ENSMUST00000122168
AA Change: Q173K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: Q173K

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: Q86K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
AA Change: Q86K

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

probably damaging
Transcript: ENSMUST00000180792
AA Change: Q530K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: Q530K

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	Het

Other mutations in Snx29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00733:Snx29	APN	16	11,221,366 (GRCm39)	missense	probably damaging	0.97
IGL02207:Snx29	APN	16	11,556,216 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Snx29	UTSW	16	11,221,488 (GRCm39)	missense	probably benign	0.00
PIT4810001:Snx29	UTSW	16	11,218,845 (GRCm39)	missense	probably damaging	1.00
R0240:Snx29	UTSW	16	11,478,417 (GRCm39)	missense	probably damaging	1.00
R0240:Snx29	UTSW	16	11,478,417 (GRCm39)	missense	probably damaging	1.00
R0276:Snx29	UTSW	16	11,556,237 (GRCm39)	missense	probably benign	0.01
R0506:Snx29	UTSW	16	11,213,167 (GRCm39)	missense	probably benign	0.15
R0621:Snx29	UTSW	16	11,223,651 (GRCm39)	splice site	probably null
R0975:Snx29	UTSW	16	11,165,735 (GRCm39)	missense	possibly damaging	0.66
R1225:Snx29	UTSW	16	11,238,550 (GRCm39)	intron	probably benign
R1406:Snx29	UTSW	16	11,217,657 (GRCm39)	missense	probably benign	0.38
R1406:Snx29	UTSW	16	11,217,657 (GRCm39)	missense	probably benign	0.38
R1452:Snx29	UTSW	16	11,449,335 (GRCm39)	missense	probably damaging	1.00
R1515:Snx29	UTSW	16	11,217,701 (GRCm39)	critical splice donor site	probably null
R1874:Snx29	UTSW	16	11,185,545 (GRCm39)	missense	probably benign	0.01
R1953:Snx29	UTSW	16	11,217,647 (GRCm39)	nonsense	probably null
R1978:Snx29	UTSW	16	11,185,588 (GRCm39)	missense	probably benign	0.23
R2054:Snx29	UTSW	16	11,449,356 (GRCm39)	missense	probably damaging	1.00
R2105:Snx29	UTSW	16	11,328,898 (GRCm39)	missense	possibly damaging	0.72
R2128:Snx29	UTSW	16	11,218,835 (GRCm39)	missense	probably damaging	0.98
R2152:Snx29	UTSW	16	11,218,707 (GRCm39)	missense	possibly damaging	0.95
R2912:Snx29	UTSW	16	11,265,317 (GRCm39)	missense	probably damaging	0.99
R2913:Snx29	UTSW	16	11,265,317 (GRCm39)	missense	probably damaging	0.99
R2914:Snx29	UTSW	16	11,265,317 (GRCm39)	missense	probably damaging	0.99
R4468:Snx29	UTSW	16	11,238,565 (GRCm39)	splice site	probably null
R4469:Snx29	UTSW	16	11,238,565 (GRCm39)	splice site	probably null
R4744:Snx29	UTSW	16	11,167,773 (GRCm39)	nonsense	probably null
R4798:Snx29	UTSW	16	11,238,600 (GRCm39)	missense	probably damaging	1.00
R5000:Snx29	UTSW	16	11,221,371 (GRCm39)	missense	probably damaging	0.99
R5165:Snx29	UTSW	16	11,238,639 (GRCm39)	missense	probably damaging	0.98
R5207:Snx29	UTSW	16	11,556,227 (GRCm39)	missense	probably damaging	1.00
R5235:Snx29	UTSW	16	11,231,110 (GRCm39)	missense	possibly damaging	0.94
R5274:Snx29	UTSW	16	11,556,268 (GRCm39)	missense	probably damaging	1.00
R5277:Snx29	UTSW	16	11,217,688 (GRCm39)	missense	possibly damaging	0.82
R5462:Snx29	UTSW	16	11,328,876 (GRCm39)	missense	possibly damaging	0.89
R5655:Snx29	UTSW	16	11,573,185 (GRCm39)	missense	probably damaging	1.00
R6036:Snx29	UTSW	16	11,556,301 (GRCm39)	splice site	probably null
R6036:Snx29	UTSW	16	11,556,301 (GRCm39)	splice site	probably null
R6326:Snx29	UTSW	16	11,221,430 (GRCm39)	missense	probably benign
R6576:Snx29	UTSW	16	11,532,920 (GRCm39)	critical splice donor site	probably null
R7406:Snx29	UTSW	16	11,573,180 (GRCm39)	missense	probably damaging	1.00
R7552:Snx29	UTSW	16	11,238,649 (GRCm39)	critical splice donor site	probably null
R7555:Snx29	UTSW	16	11,218,806 (GRCm39)	missense	probably benign	0.02
R7736:Snx29	UTSW	16	11,185,588 (GRCm39)	missense	probably benign	0.23
R7962:Snx29	UTSW	16	11,231,221 (GRCm39)	critical splice donor site	probably null
R8101:Snx29	UTSW	16	11,389,580 (GRCm39)	missense	probably benign	0.16
R8415:Snx29	UTSW	16	11,265,291 (GRCm39)	missense	probably damaging	1.00
R8549:Snx29	UTSW	16	11,532,920 (GRCm39)	critical splice donor site	probably null
R9010:Snx29	UTSW	16	11,449,391 (GRCm39)	missense	probably benign	0.00
R9091:Snx29	UTSW	16	11,213,155 (GRCm39)	missense	probably benign	0.33
R9099:Snx29	UTSW	16	11,478,435 (GRCm39)	missense	probably damaging	1.00
R9176:Snx29	UTSW	16	11,236,728 (GRCm39)	missense	probably benign
R9258:Snx29	UTSW	16	11,532,799 (GRCm39)	missense	possibly damaging	0.78
R9270:Snx29	UTSW	16	11,213,155 (GRCm39)	missense	probably benign	0.33
R9672:Snx29	UTSW	16	11,478,515 (GRCm39)	missense	probably benign	0.00
R9778:Snx29	UTSW	16	11,223,609 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CAGTGATGAGCCTTGATCTGG -3'
(R):5'- TGCACAACTGTAGCTTCCTTTG -3'

Sequencing Primer
(F):5'- ATCTGGGTGGGATGGATGCAC -3'
(R):5'- GCTGGCACATGCTTGCAATC -3'

Posted On

2015-09-25