Incidental Mutation 'R2914:Snx29'
ID |
254819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx29
|
Ensembl Gene |
ENSMUSG00000071669 |
Gene Name |
sorting nexin 29 |
Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
MMRRC Submission |
040501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2914 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 11265317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 516
(R516W)
|
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: R174W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093993 Gene: ENSMUSG00000071669 AA Change: R174W
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: ENSMUST00000122168
AA Change: R159W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113595 Gene: ENSMUSG00000071669 AA Change: R159W
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: R72W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117896 Gene: ENSMUSG00000071669 AA Change: R72W
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: R516W
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138025 Gene: ENSMUSG00000071669 AA Change: R516W
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
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 |
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'- ATTGAGTTGGTGCAGAGCC -3'
(R):5'- CACAACTGTAGCTTCCTTTGG -3'
Sequencing Primer
(F):5'- CCTGTGGGCAGTGATGAGC -3'
(R):5'- GCTGGCACATGCTTGCAATC -3'
|
Posted On |
2014-12-29 |