Incidental Mutation 'R9778:Snx29'
ID |
733868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx29
|
Ensembl Gene |
ENSMUSG00000071669 |
Gene Name |
sorting nexin 29 |
Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9778 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11223609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 18
(E18G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000115814]
[ENSMUST00000122168]
[ENSMUST00000180792]
|
AlphaFold |
Q9D3S3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096273
AA Change: E18G
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000093993 Gene: ENSMUSG00000071669 AA Change: E18G
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: 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 benign
Transcript: ENSMUST00000122168
|
SMART Domains |
Protein: ENSMUSP00000113595 Gene: ENSMUSG00000071669
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 |
probably benign
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: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
A |
T |
8: 125,366,098 (GRCm39) |
I215N |
probably damaging |
Het |
Aig1 |
T |
C |
10: 13,528,757 (GRCm39) |
|
probably null |
Het |
Atp8b2 |
T |
A |
3: 89,861,865 (GRCm39) |
K82N |
possibly damaging |
Het |
Cacnb4 |
T |
G |
2: 52,359,615 (GRCm39) |
Y131S |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,697,864 (GRCm39) |
S62N |
possibly damaging |
Het |
Crmp1 |
A |
G |
5: 37,422,619 (GRCm39) |
D142G |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,260,957 (GRCm39) |
Q716R |
possibly damaging |
Het |
Cyp2u1 |
T |
C |
3: 131,087,133 (GRCm39) |
T483A |
possibly damaging |
Het |
D930020B18Rik |
T |
C |
10: 121,503,565 (GRCm39) |
F247L |
probably benign |
Het |
Dcaf13 |
T |
C |
15: 39,008,586 (GRCm39) |
L396P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,353,240 (GRCm39) |
M2798V |
probably benign |
Het |
E030018B13Rik |
A |
T |
7: 63,569,125 (GRCm39) |
T58S |
unknown |
Het |
Eipr1 |
T |
C |
12: 28,897,657 (GRCm39) |
|
probably null |
Het |
Elf1 |
C |
T |
14: 79,817,948 (GRCm39) |
T526M |
possibly damaging |
Het |
Gm8369 |
GTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,128 (GRCm39) |
|
probably null |
Het |
Got1 |
A |
G |
19: 43,504,284 (GRCm39) |
S46P |
probably benign |
Het |
Inpp4b |
T |
C |
8: 82,775,160 (GRCm39) |
I786T |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,279,892 (GRCm39) |
I703M |
probably damaging |
Het |
Krt222 |
A |
T |
11: 99,125,838 (GRCm39) |
S264R |
probably benign |
Het |
Lrrd1 |
A |
C |
5: 3,899,982 (GRCm39) |
S96R |
possibly damaging |
Het |
Ltb |
C |
A |
17: 35,414,906 (GRCm39) |
Y235* |
probably null |
Het |
Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
Mlycd |
T |
A |
8: 120,129,325 (GRCm39) |
I264N |
probably damaging |
Het |
Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,349,021 (GRCm39) |
K487* |
probably null |
Het |
Myh13 |
T |
C |
11: 67,249,016 (GRCm39) |
I1274T |
probably damaging |
Het |
Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
Ncf1 |
T |
A |
5: 134,258,444 (GRCm39) |
|
probably benign |
Het |
Nipbl |
C |
A |
15: 8,321,032 (GRCm39) |
A2692S |
probably benign |
Het |
Odf2l |
C |
T |
3: 144,854,789 (GRCm39) |
T542I |
possibly damaging |
Het |
Or10a49 |
A |
G |
7: 108,467,698 (GRCm39) |
I221T |
probably damaging |
Het |
Or10al2 |
T |
A |
17: 37,983,145 (GRCm39) |
I77N |
probably damaging |
Het |
Oxsm |
T |
C |
14: 16,242,629 (GRCm38) |
T47A |
possibly damaging |
Het |
Pcdhga3 |
A |
T |
18: 37,807,786 (GRCm39) |
S80C |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,512,176 (GRCm39) |
T1377A |
probably benign |
Het |
Phactr3 |
C |
A |
2: 177,924,805 (GRCm39) |
Q252K |
possibly damaging |
Het |
Phf2 |
T |
C |
13: 48,973,101 (GRCm39) |
H385R |
unknown |
Het |
Pkd1l3 |
A |
T |
8: 110,357,937 (GRCm39) |
T820S |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,887,966 (GRCm39) |
H353Q |
|
Het |
Prss37 |
T |
A |
6: 40,494,713 (GRCm39) |
E24V |
probably damaging |
Het |
Reln |
A |
G |
5: 22,155,943 (GRCm39) |
F2183S |
probably damaging |
Het |
Slc20a2 |
A |
G |
8: 23,051,407 (GRCm39) |
D480G |
probably damaging |
Het |
Slc8a2 |
C |
T |
7: 15,887,124 (GRCm39) |
T672M |
probably damaging |
Het |
Slf2 |
A |
G |
19: 44,961,666 (GRCm39) |
T1062A |
probably benign |
Het |
Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
Srf |
C |
A |
17: 46,860,079 (GRCm39) |
G482V |
possibly damaging |
Het |
Styk1 |
G |
A |
6: 131,287,992 (GRCm39) |
Q124* |
probably null |
Het |
Tcf7l1 |
G |
T |
6: 72,608,226 (GRCm39) |
A385E |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,913,495 (GRCm39) |
S142P |
probably benign |
Het |
Tlr1 |
G |
A |
5: 65,083,371 (GRCm39) |
S402F |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,769,635 (GRCm39) |
H475R |
probably benign |
Het |
Trmt10b |
A |
T |
4: 45,314,374 (GRCm39) |
N272I |
probably damaging |
Het |
Ubxn7 |
A |
T |
16: 32,200,471 (GRCm39) |
N409I |
probably benign |
Het |
Vcan |
T |
C |
13: 89,837,930 (GRCm39) |
E2538G |
probably damaging |
Het |
Vmn1r65 |
C |
T |
7: 6,011,387 (GRCm39) |
W282* |
probably null |
Het |
Vmn2r4 |
A |
G |
3: 64,322,497 (GRCm39) |
I74T |
probably benign |
Het |
Wdr97 |
T |
A |
15: 76,241,125 (GRCm39) |
F574I |
|
Het |
Zfp949 |
T |
C |
9: 88,449,340 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGAGTCAATGCCTGAGC -3'
(R):5'- ATACTGGATAAAGCGGGATCC -3'
Sequencing Primer
(F):5'- AGTCAATGCCTGAGCCCCAG -3'
(R):5'- GGGATCCGGCACCAAAG -3'
|
Posted On |
2022-11-14 |