Incidental Mutation 'R5274:Snx29'
ID |
403848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx29
|
Ensembl Gene |
ENSMUSG00000071669 |
Gene Name |
sorting nexin 29 |
Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
MMRRC Submission |
042837-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5274 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 11556268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 766
(E766D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000180792]
|
AlphaFold |
Q9D3S3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096273
AA Change: E424D
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093993 Gene: ENSMUSG00000071669 AA Change: E424D
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: ENSMUST00000180792
AA Change: E766D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138025 Gene: ENSMUSG00000071669 AA Change: E766D
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: 99.5%
- 3x: 98.9%
- 10x: 98.0%
- 20x: 96.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,092,856 (GRCm39) |
R155H |
probably benign |
Het |
Ace |
T |
C |
11: 105,858,863 (GRCm39) |
M19T |
probably benign |
Het |
Agl |
A |
G |
3: 116,566,135 (GRCm39) |
L995P |
probably damaging |
Het |
AY761185 |
T |
C |
8: 21,433,889 (GRCm39) |
N90S |
unknown |
Het |
Brca2 |
T |
C |
5: 150,463,154 (GRCm39) |
S973P |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,576,250 (GRCm39) |
T66A |
probably damaging |
Het |
Cbarp |
T |
C |
10: 79,967,649 (GRCm39) |
S531G |
possibly damaging |
Het |
Cby2 |
A |
G |
14: 75,820,666 (GRCm39) |
V362A |
probably benign |
Het |
Cd96 |
G |
T |
16: 45,890,066 (GRCm39) |
T319K |
possibly damaging |
Het |
Ceacam23 |
T |
C |
7: 17,649,642 (GRCm39) |
|
probably null |
Het |
Chil5 |
A |
C |
3: 105,936,169 (GRCm39) |
F41C |
probably damaging |
Het |
Col24a1 |
A |
C |
3: 145,190,433 (GRCm39) |
E1239D |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,109,985 (GRCm39) |
E1490G |
possibly damaging |
Het |
Dync1li1 |
T |
C |
9: 114,544,273 (GRCm39) |
V315A |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,116,540 (GRCm39) |
S99G |
probably benign |
Het |
Dynlt5 |
A |
T |
4: 102,859,768 (GRCm39) |
T103S |
possibly damaging |
Het |
E2f8 |
C |
T |
7: 48,516,925 (GRCm39) |
R818H |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,309,597 (GRCm39) |
V250A |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,200,350 (GRCm39) |
T615A |
probably benign |
Het |
Fbxo38 |
A |
T |
18: 62,648,140 (GRCm39) |
D799E |
probably damaging |
Het |
Fdft1 |
A |
G |
14: 63,389,792 (GRCm39) |
F288S |
probably damaging |
Het |
Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
Gm4871 |
C |
G |
5: 144,967,180 (GRCm39) |
E185Q |
probably damaging |
Het |
Gm5901 |
C |
A |
7: 105,026,655 (GRCm39) |
P141Q |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,306,691 (GRCm39) |
I933N |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,442,062 (GRCm39) |
Q385R |
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,315,518 (GRCm39) |
E634G |
probably damaging |
Het |
Klk6 |
C |
G |
7: 43,478,553 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
G |
15: 98,752,111 (GRCm39) |
|
probably benign |
Het |
Lig3 |
T |
A |
11: 82,688,118 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
C |
2: 41,234,456 (GRCm39) |
D310G |
probably null |
Het |
Mroh6 |
A |
G |
15: 75,756,849 (GRCm39) |
V571A |
possibly damaging |
Het |
Olfm5 |
A |
G |
7: 103,809,190 (GRCm39) |
S132P |
probably damaging |
Het |
Or52n20 |
T |
C |
7: 104,320,733 (GRCm39) |
S275P |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,842 (GRCm39) |
F168I |
probably benign |
Het |
Pacc1 |
T |
C |
1: 191,080,665 (GRCm39) |
V295A |
probably damaging |
Het |
Patj |
G |
C |
4: 98,407,218 (GRCm39) |
S4T |
probably damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,899,475 (GRCm39) |
C102* |
probably null |
Het |
Pik3ap1 |
T |
C |
19: 41,270,391 (GRCm39) |
D766G |
possibly damaging |
Het |
Plch2 |
A |
T |
4: 155,083,411 (GRCm39) |
L408Q |
probably damaging |
Het |
Pnma2 |
G |
T |
14: 67,154,209 (GRCm39) |
R211L |
probably damaging |
Het |
Prkg2 |
T |
A |
5: 99,117,850 (GRCm39) |
H468L |
probably damaging |
Het |
Rad1 |
T |
A |
15: 10,488,059 (GRCm39) |
|
probably null |
Het |
Rims3 |
A |
G |
4: 120,748,571 (GRCm39) |
D264G |
probably damaging |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Rrm2 |
T |
A |
12: 24,760,406 (GRCm39) |
Y75* |
probably null |
Het |
Sall3 |
T |
C |
18: 81,013,052 (GRCm39) |
N1128S |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,018,899 (GRCm39) |
T610A |
possibly damaging |
Het |
Sox17 |
A |
G |
1: 4,562,111 (GRCm39) |
V298A |
possibly damaging |
Het |
Ss18 |
G |
A |
18: 14,774,106 (GRCm39) |
Q228* |
probably null |
Het |
Tas2r121 |
A |
G |
6: 132,677,811 (GRCm39) |
S54P |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,066,627 (GRCm39) |
E342G |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,920,037 (GRCm39) |
Y818H |
probably damaging |
Het |
Usp15 |
C |
A |
10: 123,004,256 (GRCm39) |
R166I |
probably damaging |
Het |
Vmn1r34 |
T |
G |
6: 66,614,123 (GRCm39) |
H205P |
probably damaging |
Het |
Vmn2r22 |
A |
T |
6: 123,627,593 (GRCm39) |
M1K |
probably null |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Zdhhc1 |
T |
C |
8: 106,210,402 (GRCm39) |
N5S |
probably benign |
Het |
Zfp758 |
T |
A |
17: 22,594,836 (GRCm39) |
C441S |
probably benign |
Het |
Zp2 |
T |
C |
7: 119,737,315 (GRCm39) |
E291G |
possibly 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 |
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'- GTGCATGTGGGACAAGATCATC -3'
(R):5'- TCCATTCAGACACTAGGTTGG -3'
Sequencing Primer
(F):5'- CATGTGGGACAAGATCATCTCTGAAC -3'
(R):5'- GTGGAATTAGCGTTTCAGCACCAC -3'
|
Posted On |
2016-07-22 |