Incidental Mutation 'R5207:Snx29'
| ID |
402111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| MMRRC Submission |
042782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5207 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11556227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 753
(I753F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096273]
[ENSMUST00000180792]
|
| AlphaFold |
Q9D3S3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096273
AA Change: I411F
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: I411F
| 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: ENSMUST00000180792
AA Change: I753F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: I753F
| 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 |
0.2389 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
| Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
| Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
| Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
| Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
| Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
| Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
| Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
| Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
| Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
| Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
| Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
| Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
| Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
| Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
| Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
| Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
| Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
| Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
| Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
| Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
| Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
| Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
| Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
| Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
| Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
| Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
| Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
possibly 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 |
|
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 |
|
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'- CATGCCACTCTCTACTGCAG -3'
(R):5'- TTAGCGTTTCAGCACCACC -3'
Sequencing Primer
(F):5'- AGCCCCTCTGCCAGTGTC -3'
(R):5'- GTTTCAGCACCACCGACAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation