Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Snx29'

230915

Institutional Source

Beutler Lab

Gene Symbol

Snx29

Ensembl Gene

ENSMUSG00000071669

Gene Name

sorting nexin 29

Synonyms

Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11140772-11573336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11328898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 559 (T559I)

Ref Sequence

ENSEMBL: ENSMUSP00000138025 (fasta)

Gene Model

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

AlphaFold

Q9D3S3

Predicted Effect

probably benign
Transcript: ENSMUST00000096273
AA Change: T217I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: T217I

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: T202I

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: T202I

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 benign
Transcript: ENSMUST00000150993
AA Change: T115I

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
AA Change: T115I

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: T559I

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: T559I

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,650,459 (GRCm39)	P1189L	probably benign	Het
Acbd4	G	A	11: 102,995,265 (GRCm39)	D57N	probably damaging	Het
Acot4	A	T	12: 84,085,516 (GRCm39)	M78L	probably damaging	Het
Ago1	A	T	4: 126,355,581 (GRCm39)	M76K	probably benign	Het
Agrn	G	T	4: 156,261,756 (GRCm39)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,838,507 (GRCm39)		probably null	Het
Atp1a3	A	T	7: 24,689,278 (GRCm39)	M594K	probably damaging	Het
Atp4a	G	A	7: 30,419,793 (GRCm39)		probably null	Het
Bckdk	T	A	7: 127,506,489 (GRCm39)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,989,622 (GRCm39)	V367A	probably benign	Het
C1galt1c1	T	C	X: 37,720,145 (GRCm39)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,366,105 (GRCm39)	C4*	probably null	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,067,794 (GRCm39)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Cyp2c67	T	C	19: 39,614,681 (GRCm39)	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,770,793 (GRCm39)	A1201T	probably benign	Het
Dock4	A	G	12: 40,742,988 (GRCm39)	H381R	probably benign	Het
Drc1	C	T	5: 30,513,785 (GRCm39)	S447F	probably benign	Het
Fam83g	G	T	11: 61,594,284 (GRCm39)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,085,518 (GRCm39)	S688R	probably benign	Het
Fryl	C	T	5: 73,279,642 (GRCm39)	V219I	probably benign	Het
Golgb1	T	A	16: 36,735,026 (GRCm39)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,605,621 (GRCm39)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,351,409 (GRCm39)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,984,519 (GRCm39)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,138,267 (GRCm39)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,269,737 (GRCm39)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,954,490 (GRCm39)	F291I	probably benign	Het
Ino80	T	C	2: 119,262,410 (GRCm39)	E692G	probably null	Het
Itgam	T	A	7: 127,680,884 (GRCm39)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,226,385 (GRCm39)	I924S	probably damaging	Het
Kcnq2	A	G	2: 180,723,145 (GRCm39)	C628R	probably benign	Het
Krt78	A	C	15: 101,855,849 (GRCm39)	V654G	possibly damaging	Het
Lrit2	A	G	14: 36,793,913 (GRCm39)	T326A	probably damaging	Het
Ltk	T	C	2: 119,582,569 (GRCm39)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,042,285 (GRCm39)	L53S	probably damaging	Het
Mc4r	T	C	18: 66,992,669 (GRCm39)	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,973,162 (GRCm39)	Q172*	probably null	Het
Mknk2	A	G	10: 80,504,435 (GRCm39)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,216,573 (GRCm39)	H167L	probably benign	Het
Myc	T	C	15: 61,859,951 (GRCm39)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,471,377 (GRCm39)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,741,060 (GRCm39)	M1456L	probably benign	Het
Myocd	G	A	11: 65,109,484 (GRCm39)	Q96*	probably null	Het
Nckap5	T	A	1: 125,954,255 (GRCm39)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,824,325 (GRCm39)	E784G	probably benign	Het
Nf1	A	T	11: 79,360,652 (GRCm39)	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,361,072 (GRCm39)	W228R	probably damaging	Het
Nup107	G	A	10: 117,609,225 (GRCm39)	T378I	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or52d13	T	A	7: 103,109,480 (GRCm39)		probably null	Het
Or5m3b	C	T	2: 85,871,674 (GRCm39)	T5I	probably damaging	Het
Or5w11	A	G	2: 87,459,283 (GRCm39)	T159A	probably benign	Het
Or6b13	T	A	7: 139,782,656 (GRCm39)	D9V	probably benign	Het
Otop1	A	G	5: 38,457,801 (GRCm39)	D520G	probably benign	Het
Papln	C	T	12: 83,827,010 (GRCm39)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,880,846 (GRCm39)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 110,374,205 (GRCm39)	C29*	probably null	Het
Pou5f1	G	A	17: 35,820,899 (GRCm39)	V114M	probably benign	Het
Pramel28	A	T	4: 143,692,390 (GRCm39)	Y204N	probably benign	Het
Prpf4b	C	A	13: 35,068,214 (GRCm39)		probably benign	Het
Prr23a1	C	T	9: 98,724,709 (GRCm39)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,693,059 (GRCm39)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,289,636 (GRCm39)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm39)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Ryr1	G	T	7: 28,789,575 (GRCm39)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,410,890 (GRCm39)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,398,527 (GRCm39)	S28P	probably benign	Het
Scrn3	A	G	2: 73,160,196 (GRCm39)	M280V	probably damaging	Het
Spn	C	T	7: 126,735,413 (GRCm39)	E109K	probably damaging	Het
Sra1	C	T	18: 36,808,121 (GRCm39)	R369H	probably benign	Het
Srsf11	C	T	3: 157,724,982 (GRCm39)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,815,764 (GRCm39)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,707,661 (GRCm39)	G153V	probably damaging	Het
Sycp2	A	T	2: 177,991,931 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,116,543 (GRCm39)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,015,941 (GRCm39)	H160N	probably benign	Het
Ubn1	T	A	16: 4,895,088 (GRCm39)	C711*	probably null	Het
Usp13	A	T	3: 32,956,135 (GRCm39)	D469V	probably damaging	Het
Vmn1r231	A	T	17: 21,110,380 (GRCm39)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,857,250 (GRCm39)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,928,431 (GRCm39)	I424T	probably benign	Het
Zfp109	A	G	7: 23,936,041 (GRCm39)		probably null	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
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
R4612:Snx29	UTSW	16	11,265,359 (GRCm39)	missense	probably damaging	0.99
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'- TCAGTGTTGAGCTGTGAAACAAG -3'
(R):5'- GTGCCCACATCATACAACTGTTAC -3'

Sequencing Primer
(F):5'- GCTGTGAAACAAGATAGCACATTAAC -3'
(R):5'- ATCATACAACTGTTACTAAGCCAAG -3'

Posted On

2014-09-18