Incidental Mutation 'R1406:Snx29'
| ID |
188751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11217657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 153
(M153V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115814]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115814
AA Change: M153V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111481
Gene: ENSMUSG00000071669
AA Change: M153V
| 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: ENSMUST00000180792
AA Change: M153V
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: M153V
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,034,643 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
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 |
|
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 |
|
R9778:Snx29
|
UTSW |
16 |
11,223,609 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAATGAAGTCCATCCGTCCGTCC -3'
(R):5'- GTGCATCATCCGTACAGTGTCAGAG -3'
Sequencing Primer
(F):5'- ATGTCTAAAGCTCAGGGTCTCAG -3'
(R):5'- TCAGAGGCTAGATAAATTGGCCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation