Incidental Mutation 'R6036:Snx29'
| ID |
486600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| MMRRC Submission |
043257-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6036 (G1)
|
| Quality Score |
141.008 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 11556301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096273
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
| 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 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3 |
T |
C |
11: 95,723,684 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,743,005 (GRCm39) |
V941M |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,818,127 (GRCm39) |
W588R |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,919,194 (GRCm39) |
Y464H |
probably benign |
Het |
| Barx2 |
A |
T |
9: 31,824,304 (GRCm39) |
D28E |
probably damaging |
Het |
| Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,278 (GRCm39) |
T417A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eif4enif1 |
T |
C |
11: 3,189,420 (GRCm39) |
S227P |
probably damaging |
Het |
| Erv3 |
G |
A |
2: 131,697,925 (GRCm39) |
H145Y |
possibly damaging |
Het |
| Exoc5 |
T |
C |
14: 49,251,779 (GRCm39) |
T591A |
possibly damaging |
Het |
| F5 |
A |
T |
1: 164,012,565 (GRCm39) |
E493V |
probably damaging |
Het |
| Gm8444 |
G |
T |
15: 81,727,794 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,537,646 (GRCm39) |
I221L |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| H2bc13 |
A |
T |
13: 21,900,148 (GRCm39) |
S56T |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,929,696 (GRCm39) |
T249A |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,717,801 (GRCm39) |
T48A |
probably benign |
Het |
| Hp |
A |
G |
8: 110,303,406 (GRCm39) |
|
probably null |
Het |
| Ifna15 |
T |
G |
4: 88,476,310 (GRCm39) |
D58A |
possibly damaging |
Het |
| Kcnj1 |
A |
T |
9: 32,308,421 (GRCm39) |
M262L |
probably benign |
Het |
| Krt87 |
A |
C |
15: 101,385,412 (GRCm39) |
I320S |
possibly damaging |
Het |
| Megf10 |
A |
G |
18: 57,375,799 (GRCm39) |
N242D |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,157,895 (GRCm39) |
T451A |
probably benign |
Het |
| Or2ag2b |
A |
T |
7: 106,417,667 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4g7 |
T |
C |
2: 111,309,333 (GRCm39) |
L68P |
probably damaging |
Het |
| Or4k35 |
C |
T |
2: 111,099,957 (GRCm39) |
G252R |
probably damaging |
Het |
| Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
| Or8d23 |
A |
G |
9: 38,842,216 (GRCm39) |
I250V |
probably damaging |
Het |
| Pdzd8 |
G |
A |
19: 59,293,641 (GRCm39) |
P403S |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,248,019 (GRCm39) |
Q494* |
probably null |
Het |
| Pik3c2b |
T |
C |
1: 133,018,451 (GRCm39) |
F966S |
possibly damaging |
Het |
| Plag1 |
T |
C |
4: 3,904,618 (GRCm39) |
E191G |
possibly damaging |
Het |
| Pou4f2 |
A |
T |
8: 79,162,103 (GRCm39) |
S167T |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
G |
A |
19: 44,333,231 (GRCm39) |
D319N |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,847,308 (GRCm39) |
R279* |
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,649,806 (GRCm39) |
G137D |
probably benign |
Het |
| Simc1 |
C |
T |
13: 54,672,434 (GRCm39) |
P261S |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,821,436 (GRCm39) |
D151V |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,556 (GRCm39) |
A2271V |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,491,313 (GRCm39) |
N485D |
possibly damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,822,606 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ttc23 |
A |
G |
7: 67,361,114 (GRCm39) |
I378V |
possibly damaging |
Het |
| Ttc29 |
A |
G |
8: 79,052,205 (GRCm39) |
D362G |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,645,917 (GRCm39) |
I592V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,172 (GRCm39) |
H107L |
probably benign |
Het |
| Vmn1r70 |
A |
G |
7: 10,367,830 (GRCm39) |
Q87R |
probably damaging |
Het |
| Vmn2r-ps129 |
T |
C |
17: 23,214,146 (GRCm39) |
|
noncoding transcript |
Het |
| Wdfy4 |
G |
T |
14: 32,868,947 (GRCm39) |
S360R |
probably damaging |
Het |
| Zfp780b |
A |
G |
7: 27,662,993 (GRCm39) |
Y521H |
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 |
|
|
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 |
|
|
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'- GGTGCATGTGGGACAAGATC -3'
(R):5'- CCATTCAGACACTAGGTTGGTAAGG -3'
Sequencing Primer
(F):5'- TGCATGTGGGACAAGATCATCTC -3'
(R):5'- CACTAGGTTGGTAAGGTCCAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation