Incidental Mutation 'R9099:Snx29'
ID |
691577 |
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 # |
R9099 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 11478435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 322
(W322R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093993
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000122168]
[ENSMUST00000150993]
[ENSMUST00000180792]
|
AlphaFold |
Q9D3S3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096273
AA Change: W322R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093993 Gene: ENSMUSG00000071669 AA Change: W322R
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: ENSMUST00000122168
AA Change: W307R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113595 Gene: ENSMUSG00000071669 AA Change: W307R
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 damaging
Transcript: ENSMUST00000150993
AA Change: W220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117896 Gene: ENSMUSG00000071669 AA Change: W220R
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 damaging
Transcript: ENSMUST00000180792
AA Change: W664R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138025 Gene: ENSMUSG00000071669 AA Change: W664R
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 |
94% (61/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,871,708 (GRCm39) |
M90K |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
Arrb1 |
T |
C |
7: 99,243,836 (GRCm39) |
V262A |
probably damaging |
Het |
Bok |
A |
G |
1: 93,622,661 (GRCm39) |
I102V |
|
Het |
C87436 |
T |
A |
6: 86,439,567 (GRCm39) |
F419L |
probably damaging |
Het |
Capn15 |
A |
G |
17: 26,192,141 (GRCm39) |
C34R |
probably benign |
Het |
Ccdc8 |
T |
A |
7: 16,728,800 (GRCm39) |
Y96* |
probably null |
Het |
Cd274 |
T |
A |
19: 29,357,771 (GRCm39) |
C154* |
probably null |
Het |
Cfap251 |
A |
G |
5: 123,418,082 (GRCm39) |
|
probably benign |
Het |
Ckap4 |
A |
T |
10: 84,369,402 (GRCm39) |
L110Q |
probably damaging |
Het |
Col26a1 |
A |
T |
5: 136,777,202 (GRCm39) |
D335E |
probably benign |
Het |
Crybg1 |
C |
T |
10: 43,874,844 (GRCm39) |
V755I |
probably benign |
Het |
Dhx38 |
A |
T |
8: 110,282,783 (GRCm39) |
Y628N |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,492,325 (GRCm39) |
K1155M |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,697,270 (GRCm39) |
F153L |
probably damaging |
Het |
Erg |
T |
A |
16: 95,178,188 (GRCm39) |
E246D |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,982,000 (GRCm39) |
N99D |
possibly damaging |
Het |
Fam222b |
G |
T |
11: 78,046,020 (GRCm39) |
R527L |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,875,135 (GRCm39) |
Y734C |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,619 (GRCm39) |
E196G |
possibly damaging |
Het |
Gata5 |
G |
A |
2: 179,976,131 (GRCm39) |
P11L |
possibly damaging |
Het |
Gbp3 |
A |
T |
3: 142,271,048 (GRCm39) |
S151C |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,901,320 (GRCm39) |
L1569P |
probably damaging |
Het |
Helz |
G |
A |
11: 107,523,041 (GRCm39) |
V742M |
probably damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,418,114 (GRCm39) |
N175K |
unknown |
Het |
Itga1 |
A |
T |
13: 115,185,856 (GRCm39) |
Y49N |
probably damaging |
Het |
Kcnk2 |
T |
C |
1: 188,991,072 (GRCm39) |
T167A |
probably damaging |
Het |
Kirrel2 |
T |
A |
7: 30,147,642 (GRCm39) |
T669S |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
A |
T |
14: 36,790,812 (GRCm39) |
T164S |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,051,864 (GRCm39) |
V296A |
probably damaging |
Het |
Malsu1 |
C |
T |
6: 49,050,731 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,968,934 (GRCm39) |
G380E |
probably damaging |
Het |
Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
A |
7: 101,844,173 (GRCm39) |
N54I |
probably damaging |
Het |
Or7g21 |
C |
T |
9: 19,032,890 (GRCm39) |
P210L |
probably benign |
Het |
Or8g22 |
A |
T |
9: 38,958,026 (GRCm39) |
C230S |
probably benign |
Het |
Or8g53 |
A |
G |
9: 39,683,514 (GRCm39) |
I194T |
|
Het |
Otoa |
T |
A |
7: 120,739,055 (GRCm39) |
F755I |
probably benign |
Het |
P4htm |
A |
T |
9: 108,460,911 (GRCm39) |
M187K |
probably benign |
Het |
Phldb3 |
C |
T |
7: 24,323,727 (GRCm39) |
R453C |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,922,986 (GRCm39) |
A94T |
|
Het |
Pkp1 |
A |
G |
1: 135,805,429 (GRCm39) |
F669S |
probably benign |
Het |
Prl8a2 |
C |
G |
13: 27,536,793 (GRCm39) |
Y138* |
probably null |
Het |
Prl8a2 |
T |
A |
13: 27,536,794 (GRCm39) |
Y139N |
probably benign |
Het |
Rtn4r |
T |
A |
16: 17,969,068 (GRCm39) |
N165K |
probably benign |
Het |
Scaper |
G |
T |
9: 55,669,616 (GRCm39) |
D353E |
probably damaging |
Het |
Scn4a |
G |
T |
11: 106,211,000 (GRCm39) |
D1672E |
probably damaging |
Het |
She |
A |
G |
3: 89,739,078 (GRCm39) |
S90G |
probably benign |
Het |
Shmt2 |
A |
T |
10: 127,355,962 (GRCm39) |
D130E |
possibly damaging |
Het |
Slc2a12 |
T |
A |
10: 22,569,923 (GRCm39) |
I538K |
possibly damaging |
Het |
Spp1 |
A |
G |
5: 104,588,387 (GRCm39) |
D263G |
probably benign |
Het |
Srek1ip1 |
T |
C |
13: 104,973,964 (GRCm39) |
S124P |
possibly damaging |
Het |
Tcp10b |
C |
T |
17: 13,280,656 (GRCm39) |
|
probably benign |
Het |
Thap12 |
T |
C |
7: 98,364,600 (GRCm39) |
F256S |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,845,497 (GRCm39) |
Y516H |
|
Het |
Trem1 |
C |
A |
17: 48,544,271 (GRCm39) |
Q99K |
possibly damaging |
Het |
Umodl1 |
C |
T |
17: 31,178,147 (GRCm39) |
P41L |
probably benign |
Het |
Upp2 |
T |
C |
2: 58,457,542 (GRCm39) |
|
probably null |
Het |
Zfand1 |
A |
T |
3: 10,406,148 (GRCm39) |
M181K |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,809,228 (GRCm39) |
E1277G |
possibly damaging |
Het |
Zfp458 |
G |
T |
13: 67,405,696 (GRCm39) |
P248T |
probably damaging |
Het |
Zfp667 |
T |
A |
7: 6,308,322 (GRCm39) |
M330K |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,917,107 (GRCm39) |
T561A |
|
Het |
Zfp947 |
C |
T |
17: 22,364,855 (GRCm39) |
G273D |
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 |
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'- AAGGCCACTTAGCTGGTAAGAAC -3'
(R):5'- CTGGGAAACAGCCATCAAGC -3'
Sequencing Primer
(F):5'- ATATATGTGTGTGTGTATGTGTGTG -3'
(R):5'- GGAAACAGCCATCAAGCCACAG -3'
|
Posted On |
2021-12-30 |