Incidental Mutation 'R6576:Snx29'
| ID |
523525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| MMRRC Submission |
044700-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6576 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 11532920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000096273]
[ENSMUST00000180792]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096273
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
| 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 null
Transcript: ENSMUST00000096273
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
| 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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
92% (34/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
T |
4: 62,450,842 (GRCm39) |
T102S |
possibly damaging |
Het |
| Aff4 |
C |
A |
11: 53,291,268 (GRCm39) |
H743N |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,108,925 (GRCm39) |
T563A |
probably benign |
Het |
| Arhgap20 |
T |
C |
9: 51,760,578 (GRCm39) |
S774P |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,294,704 (GRCm39) |
Y528C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,783,547 (GRCm39) |
T558S |
probably benign |
Het |
| Chd8 |
T |
C |
14: 52,453,533 (GRCm39) |
Y1176C |
probably damaging |
Het |
| Cldn15 |
A |
T |
5: 137,003,470 (GRCm39) |
E157D |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,686,295 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Dnaaf3 |
A |
G |
7: 4,526,379 (GRCm39) |
I566T |
probably benign |
Het |
| Drc7 |
A |
T |
8: 95,801,886 (GRCm39) |
I716F |
probably damaging |
Het |
| Eddm13 |
G |
A |
7: 6,280,541 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,033,839 (GRCm39) |
I2497T |
probably benign |
Het |
| Fmo6 |
A |
G |
1: 162,750,264 (GRCm39) |
F264S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,292,556 (GRCm39) |
D356G |
probably damaging |
Het |
| Id1 |
T |
C |
2: 152,578,583 (GRCm39) |
V108A |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Klc3 |
G |
T |
7: 19,131,905 (GRCm39) |
D157E |
possibly damaging |
Het |
| Lasp1 |
C |
T |
11: 97,724,402 (GRCm39) |
R94C |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,496,308 (GRCm39) |
M93K |
probably damaging |
Het |
| Lrrc75a |
G |
A |
11: 62,496,695 (GRCm39) |
P289L |
probably damaging |
Het |
| Med11 |
G |
T |
11: 70,343,996 (GRCm39) |
K105N |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,380 (GRCm39) |
I146N |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,891,371 (GRCm39) |
I69V |
probably benign |
Het |
| Pik3c3 |
A |
G |
18: 30,475,794 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
T |
A |
4: 11,601,577 (GRCm39) |
N377K |
probably benign |
Het |
| Rilp |
A |
G |
11: 75,403,218 (GRCm39) |
|
probably null |
Het |
| Ripk2 |
A |
T |
4: 16,131,558 (GRCm39) |
|
probably null |
Het |
| Rnf167 |
A |
C |
11: 70,540,588 (GRCm39) |
K156T |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,199 (GRCm39) |
T236A |
probably damaging |
Het |
| Sox6 |
T |
A |
7: 115,300,937 (GRCm39) |
I177F |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,555,419 (GRCm39) |
|
probably null |
Het |
| Unc13a |
T |
A |
8: 72,106,122 (GRCm39) |
T661S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r87 |
G |
A |
10: 130,314,654 (GRCm39) |
L311F |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,633,494 (GRCm39) |
S915I |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,551,734 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
C |
14: 20,771,942 (GRCm39) |
V1548A |
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 |
|
|
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'- GCGCCACCTACCTTTATGAG -3'
(R):5'- TCCGGCGCTTTATAGGAAG -3'
Sequencing Primer
(F):5'- CCTTTATGAGGGTGACATTAAGAGC -3'
(R):5'- GCTTTATAGGAAGCTACACTGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation