Incidental Mutation 'R1515:Snx29'
| ID |
168249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| MMRRC Submission |
039562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1515 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 11217701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115814]
[ENSMUST00000115814]
[ENSMUST00000180792]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115814
|
| SMART Domains |
Protein: ENSMUSP00000111481
Gene: ENSMUSG00000071669
| 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 |
2.98e-5 |
PROSPERO |
|
internal_repeat_1
|
203 |
222 |
2.98e-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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115814
|
| SMART Domains |
Protein: ENSMUSP00000111481
Gene: ENSMUSG00000071669
| 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 |
2.98e-5 |
PROSPERO |
|
internal_repeat_1
|
203 |
222 |
2.98e-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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180792
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180792
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
| 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: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
A |
G |
7: 27,336,583 (GRCm39) |
T401A |
probably damaging |
Het |
| Arhgap32 |
G |
T |
9: 32,027,498 (GRCm39) |
V23L |
probably benign |
Het |
| Atmin |
T |
A |
8: 117,681,579 (GRCm39) |
C193S |
possibly damaging |
Het |
| Atp13a5 |
C |
T |
16: 29,152,792 (GRCm39) |
V225I |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,008,526 (GRCm39) |
V350A |
possibly damaging |
Het |
| Birc6 |
G |
T |
17: 74,835,631 (GRCm39) |
E29* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,332,563 (GRCm39) |
N104S |
probably null |
Het |
| C030048H21Rik |
T |
C |
2: 26,147,515 (GRCm39) |
|
probably null |
Het |
| Cd320 |
G |
T |
17: 34,066,613 (GRCm39) |
C117F |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,510,133 (GRCm39) |
S542P |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,747,048 (GRCm39) |
T1587A |
probably benign |
Het |
| Defb41 |
T |
C |
1: 18,330,817 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,190,384 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,355 (GRCm39) |
N2836S |
probably benign |
Het |
| Dpp8 |
G |
A |
9: 64,986,030 (GRCm39) |
S840N |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,167,758 (GRCm39) |
F111L |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,178,622 (GRCm39) |
I261F |
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,678,819 (GRCm39) |
V509A |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,808 (GRCm39) |
M103T |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,240,063 (GRCm39) |
H1064R |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,377,966 (GRCm39) |
V252A |
possibly damaging |
Het |
| F13b |
A |
G |
1: 139,438,703 (GRCm39) |
Y369C |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,612,432 (GRCm39) |
|
probably null |
Het |
| Fzd10 |
T |
A |
5: 128,679,623 (GRCm39) |
F448I |
probably damaging |
Het |
| Gpr35 |
T |
G |
1: 92,910,770 (GRCm39) |
F161V |
probably damaging |
Het |
| Gprin2 |
T |
C |
14: 33,917,230 (GRCm39) |
D180G |
possibly damaging |
Het |
| Grik3 |
A |
G |
4: 125,564,521 (GRCm39) |
N501S |
probably benign |
Het |
| Hells |
A |
G |
19: 38,956,209 (GRCm39) |
K802E |
probably damaging |
Het |
| Il1r1 |
T |
A |
1: 40,332,509 (GRCm39) |
C96* |
probably null |
Het |
| Kcnk16 |
T |
A |
14: 20,315,345 (GRCm39) |
I73F |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,472,905 (GRCm39) |
S652P |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,830,763 (GRCm39) |
D1500G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,272,273 (GRCm39) |
F6468L |
probably damaging |
Het |
| Mgrn1 |
T |
A |
16: 4,733,644 (GRCm39) |
F198I |
probably benign |
Het |
| Mmp3 |
A |
G |
9: 7,451,232 (GRCm39) |
T323A |
probably benign |
Het |
| N4bp2 |
A |
G |
5: 65,947,841 (GRCm39) |
Y157C |
probably benign |
Het |
| Nfkbid |
C |
A |
7: 30,124,781 (GRCm39) |
H190Q |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,313,148 (GRCm39) |
V184A |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,044 (GRCm39) |
S237P |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,460 (GRCm39) |
S236P |
probably damaging |
Het |
| Osgin2 |
C |
T |
4: 15,998,380 (GRCm39) |
G414D |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,827 (GRCm39) |
R4097H |
probably benign |
Het |
| Pnkd |
T |
A |
1: 74,388,968 (GRCm39) |
L213Q |
probably null |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,930 (GRCm39) |
H850R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,257 (GRCm39) |
D148G |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 162,079,954 (GRCm39) |
S282T |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,894,457 (GRCm39) |
V536A |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,387,947 (GRCm39) |
Q383L |
probably benign |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,542 (GRCm39) |
|
noncoding transcript |
Het |
| Tmod4 |
A |
T |
3: 95,035,990 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Trim13 |
T |
C |
14: 61,843,108 (GRCm39) |
M375T |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,892,926 (GRCm39) |
S935P |
probably damaging |
Het |
| Umod |
T |
C |
7: 119,064,720 (GRCm39) |
N592D |
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,643 (GRCm39) |
Y290H |
probably benign |
Het |
| Vps26b |
A |
G |
9: 26,924,041 (GRCm39) |
M234T |
probably damaging |
Het |
| Zbtb48 |
A |
G |
4: 152,104,658 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,252,647 (GRCm39) |
F1320Y |
probably benign |
Het |
| Zfp784 |
A |
T |
7: 5,039,039 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- TGAATGAAGTCCATCCGTCCGTCC -3'
(R):5'- GTGCATCATCCGTACAGTGTCAGAG -3'
Sequencing Primer
(F):5'- ATGTCTAAAGCTCAGGGTCTCAG -3'
(R):5'- TCAGAGGCTAGATAAATTGGCCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation