Incidental Mutation 'R1452:Snx29'
| ID |
161100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx29
|
| Ensembl Gene |
ENSMUSG00000071669 |
| Gene Name |
sorting nexin 29 |
| Synonyms |
Rundc2a, Gm11170, LOC385605, LOC381035, 4933437K13Rik |
| MMRRC Submission |
039507-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1452 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
11140772-11573336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11449335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 260
(H260L)
|
| 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: H260L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093993
Gene: ENSMUSG00000071669
AA Change: H260L
| 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: H245L
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113595
Gene: ENSMUSG00000071669
AA Change: H245L
| 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 |
noncoding transcript
Transcript: ENSMUST00000134941
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150993
AA Change: H158L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117896
Gene: ENSMUSG00000071669
AA Change: H158L
| 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 |
noncoding transcript
Transcript: ENSMUST00000151478
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180792
AA Change: H602L
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138025
Gene: ENSMUSG00000071669
AA Change: H602L
| 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 |
0.4302 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
| Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
A |
T |
17: 56,091,996 (GRCm39) |
E85D |
probably benign |
Het |
| Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
| Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
| Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
| Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
| Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
| Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
| Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
| Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
| Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,249,881 (GRCm39) |
T802K |
probably damaging |
Het |
| Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
| Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
| Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
| Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
| Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
| Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
| Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
| Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
| Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
| Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
| Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
| Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
| Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
| Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
| Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
| Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
| Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
| Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
| Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
| Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
| Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
| Slco1b2 |
A |
T |
6: 141,617,926 (GRCm39) |
I424F |
probably benign |
Het |
| Stil |
A |
G |
4: 114,896,392 (GRCm39) |
N959S |
probably benign |
Het |
| Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpc6 |
G |
A |
9: 8,653,148 (GRCm39) |
M573I |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
| Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
| Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
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 |
|
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'- AGCTGGGACATCATCATCACCATTG -3'
(R):5'- GAATGCGCCTGTATGACAAGCAC -3'
Sequencing Primer
(F):5'- gcagtcacgctaccacttatc -3'
(R):5'- CATGACTCTCTAATGATACAGTCTGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation