Incidental Mutation 'R9176:Snx29'
| ID |
696710 |
| 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 # |
R9176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11236728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 90
(N90D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000122168]
[ENSMUST00000150993]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096273
AA Change: N90D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: N90D
| 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: ENSMUST00000122168
AA Change: N74D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: N74D
| 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: ENSMUST00000150993
|
| SMART Domains |
Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
| 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 |
probably benign
Transcript: ENSMUST00000180792
AA Change: N432D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: N432D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,004 (GRCm39) |
D119G |
probably damaging |
Het |
| 1700123K08Rik |
T |
C |
5: 138,561,155 (GRCm39) |
D169G |
probably damaging |
Het |
| Abcd2 |
T |
G |
15: 91,075,623 (GRCm39) |
R63S |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,852,248 (GRCm39) |
Y678H |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,010,852 (GRCm39) |
V1750E |
possibly damaging |
Het |
| Cd300ld2 |
C |
A |
11: 114,904,772 (GRCm39) |
E32* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,076,442 (GRCm39) |
L423Q |
probably damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,127 (GRCm39) |
T90A |
probably damaging |
Het |
| Cmpk2 |
T |
A |
12: 26,524,027 (GRCm39) |
S275T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,620,730 (GRCm39) |
N936K |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
T |
1: 82,463,349 (GRCm39) |
P1047Q |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,938,755 (GRCm39) |
L1321P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,297,892 (GRCm39) |
F211L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,864,937 (GRCm39) |
Q27R |
|
Het |
| Dapk1 |
T |
C |
13: 60,866,262 (GRCm39) |
V205A |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,586,158 (GRCm39) |
N729S |
probably benign |
Het |
| Derl2 |
A |
G |
11: 70,904,376 (GRCm39) |
V139A |
possibly damaging |
Het |
| Dscam |
C |
T |
16: 96,486,553 (GRCm39) |
D1041N |
probably benign |
Het |
| Fbxo2 |
A |
T |
4: 148,250,147 (GRCm39) |
R226W |
probably damaging |
Het |
| Fhip1b |
A |
C |
7: 105,030,585 (GRCm39) |
H180Q |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,826,540 (GRCm39) |
K183E |
probably benign |
Het |
| Gpr19 |
A |
G |
6: 134,846,718 (GRCm39) |
S322P |
probably damaging |
Het |
| Gvin2 |
T |
C |
7: 105,551,262 (GRCm39) |
K597E |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,636,663 (GRCm39) |
N793S |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,191,025 (GRCm39) |
S563T |
probably benign |
Het |
| Il1r2 |
T |
C |
1: 40,144,478 (GRCm39) |
L55P |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Lims1 |
T |
G |
10: 58,254,265 (GRCm39) |
C340G |
probably damaging |
Het |
| Loxl3 |
G |
A |
6: 83,026,292 (GRCm39) |
C460Y |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,763,565 (GRCm39) |
L152* |
probably null |
Het |
| Mef2d |
T |
C |
3: 88,066,463 (GRCm39) |
V144A |
possibly damaging |
Het |
| Mertk |
A |
G |
2: 128,620,892 (GRCm39) |
D578G |
possibly damaging |
Het |
| Mettl1 |
C |
A |
10: 126,881,250 (GRCm39) |
Q254K |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,707 (GRCm39) |
E443G |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,241 (GRCm39) |
F484L |
probably damaging |
Het |
| Neurl1b |
C |
T |
17: 26,660,055 (GRCm39) |
T425I |
possibly damaging |
Het |
| Nomo1 |
G |
A |
7: 45,730,828 (GRCm39) |
V1104M |
possibly damaging |
Het |
| Or13a19 |
G |
T |
7: 139,903,121 (GRCm39) |
G170C |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,850 (GRCm39) |
Y135* |
probably null |
Het |
| Or4c10b |
T |
C |
2: 89,711,515 (GRCm39) |
V115A |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,600 (GRCm39) |
M43V |
probably benign |
Het |
| Or5p57 |
A |
G |
7: 107,665,246 (GRCm39) |
V223A |
probably benign |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Or9i2 |
A |
G |
19: 13,815,796 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,873,274 (GRCm39) |
K1173E |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,697,623 (GRCm39) |
N477K |
probably damaging |
Het |
| Plekha7 |
T |
G |
7: 115,739,926 (GRCm39) |
I812L |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,941,651 (GRCm39) |
T1711A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Pomt2 |
T |
A |
12: 87,194,451 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,316,123 (GRCm39) |
H671R |
probably damaging |
Het |
| Prkca |
G |
A |
11: 107,870,244 (GRCm39) |
R15C |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,746,968 (GRCm39) |
N282K |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,249 (GRCm39) |
R385G |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,841,455 (GRCm39) |
M87K |
probably damaging |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,103,689 (GRCm39) |
V1857E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,036,320 (GRCm39) |
T386A |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,598,229 (GRCm39) |
L94P |
probably damaging |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,363 (GRCm39) |
T584A |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,031,553 (GRCm39) |
N1124D |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,130,481 (GRCm39) |
T196S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,974,128 (GRCm39) |
E968G |
probably benign |
Het |
| Zbtb8a |
G |
T |
4: 129,254,221 (GRCm39) |
T91K |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,559,163 (GRCm39) |
V459E |
probably damaging |
Het |
| Zfp790 |
A |
G |
7: 29,529,387 (GRCm39) |
T691A |
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 |
|
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 |
|
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'- TGCCTGTTCAAAAGAAATGGG -3'
(R):5'- GTACACTGGCAACTTAGTTTTCTGG -3'
Sequencing Primer
(F):5'- CCTGTTCAAAAGAAATGGGTAGTAC -3'
(R):5'- TCTATTTCTTCGATCTGAGCACAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation