Incidental Mutation 'R1240:Snx13'
| ID |
151951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx13
|
| Ensembl Gene |
ENSMUSG00000020590 |
| Gene Name |
sorting nexin 13 |
| Synonyms |
RGS-PX1 |
| MMRRC Submission |
039307-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1240 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
35097191-35197479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 35141405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 163
(V163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048519]
[ENSMUST00000163677]
[ENSMUST00000221272]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048519
AA Change: V163L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038430
Gene: ENSMUSG00000020590
AA Change: V163L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
34 |
51 |
N/A |
INTRINSIC |
|
PXA
|
98 |
285 |
9.09e-102 |
SMART |
|
coiled coil region
|
293 |
320 |
N/A |
INTRINSIC |
|
RGS
|
374 |
514 |
4.63e-32 |
SMART |
|
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
|
PX
|
564 |
677 |
2.88e-31 |
SMART |
|
Pfam:Nexin_C
|
793 |
903 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163677
AA Change: V163L
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130182
Gene: ENSMUSG00000020590
AA Change: V163L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
34 |
51 |
N/A |
INTRINSIC |
|
PXA
|
97 |
284 |
9.09e-102 |
SMART |
|
coiled coil region
|
292 |
319 |
N/A |
INTRINSIC |
|
RGS
|
373 |
513 |
4.63e-32 |
SMART |
|
low complexity region
|
545 |
561 |
N/A |
INTRINSIC |
|
PX
|
563 |
676 |
2.88e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222101
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are growth retarded and die at midgestation with defects in neural tube closure, vasculogenesis and placental development. Mutant visceral yolk sac endoderm cells exhibit altered endocytic compartments, abundant autophagic vacuoles and mislocalization of endocytic markers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
G |
5: 124,227,984 (GRCm39) |
I86L |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,282,960 (GRCm39) |
L229P |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,549 (GRCm39) |
S164P |
probably benign |
Het |
| Arhgef28 |
C |
T |
13: 98,066,000 (GRCm39) |
V1618I |
probably benign |
Het |
| Arpc3 |
T |
C |
5: 122,542,242 (GRCm39) |
F88S |
probably damaging |
Het |
| Asgr2 |
G |
T |
11: 69,987,676 (GRCm39) |
R58L |
possibly damaging |
Het |
| Bach2 |
T |
C |
4: 32,563,198 (GRCm39) |
F432S |
probably damaging |
Het |
| Brms1l |
C |
A |
12: 55,891,293 (GRCm39) |
R116S |
probably damaging |
Het |
| Casp2 |
T |
A |
6: 42,245,879 (GRCm39) |
C179S |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,821,906 (GRCm39) |
E618D |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,057,541 (GRCm39) |
D260V |
possibly damaging |
Het |
| Cenpc1 |
G |
T |
5: 86,183,369 (GRCm39) |
N473K |
probably benign |
Het |
| Chst2 |
T |
C |
9: 95,287,536 (GRCm39) |
E270G |
possibly damaging |
Het |
| Chst9 |
C |
T |
18: 15,586,231 (GRCm39) |
E111K |
probably benign |
Het |
| Cyp3a44 |
T |
G |
5: 145,711,250 (GRCm39) |
I474L |
probably benign |
Het |
| Dbr1 |
G |
T |
9: 99,466,073 (GRCm39) |
E550D |
probably benign |
Het |
| Dph6 |
T |
C |
2: 114,475,199 (GRCm39) |
|
probably null |
Het |
| Fam227b |
T |
A |
2: 125,966,505 (GRCm39) |
I136L |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,819,950 (GRCm39) |
N2559S |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,581 (GRCm39) |
I435N |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,159 (GRCm39) |
S386R |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,326,098 (GRCm39) |
N31Y |
probably damaging |
Het |
| Grk2 |
A |
G |
19: 4,340,707 (GRCm39) |
C251R |
probably damaging |
Het |
| H2-DMa |
G |
T |
17: 34,357,380 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
T |
C |
4: 137,957,009 (GRCm39) |
S63P |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,581,174 (GRCm39) |
|
probably null |
Het |
| Inf2 |
G |
A |
12: 112,577,210 (GRCm39) |
R1018Q |
unknown |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Klhl30 |
T |
C |
1: 91,288,737 (GRCm39) |
S499P |
probably benign |
Het |
| Lama2 |
A |
C |
10: 26,917,120 (GRCm39) |
D2268E |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Marf1 |
T |
C |
16: 13,964,626 (GRCm39) |
N258S |
possibly damaging |
Het |
| Mc1r |
T |
A |
8: 124,134,999 (GRCm39) |
C251S |
probably damaging |
Het |
| Myo15b |
C |
A |
11: 115,771,327 (GRCm39) |
Q257K |
possibly damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,456,176 (GRCm39) |
F2431S |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,186,321 (GRCm39) |
H917L |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,004,292 (GRCm39) |
|
probably null |
Het |
| Nr1d2 |
A |
T |
14: 18,211,891 (GRCm38) |
M404K |
probably benign |
Het |
| Or4b1d |
T |
G |
2: 89,969,157 (GRCm39) |
I109L |
possibly damaging |
Het |
| Or8u8 |
T |
G |
2: 86,012,453 (GRCm39) |
M1L |
possibly damaging |
Het |
| Otoa |
T |
C |
7: 120,755,713 (GRCm39) |
S1040P |
probably benign |
Het |
| Pctp |
T |
C |
11: 89,893,640 (GRCm39) |
D10G |
probably benign |
Het |
| Pja2 |
G |
T |
17: 64,616,613 (GRCm39) |
T94K |
probably benign |
Het |
| Plxna1 |
C |
T |
6: 89,298,032 (GRCm39) |
V1749M |
probably damaging |
Het |
| Prdm15 |
C |
T |
16: 97,638,800 (GRCm39) |
E87K |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,660,937 (GRCm39) |
F1028L |
probably benign |
Het |
| Sepsecs |
T |
C |
5: 52,818,021 (GRCm39) |
N252S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc22a22 |
G |
A |
15: 57,114,268 (GRCm39) |
S353F |
probably benign |
Het |
| Slc49a4 |
A |
G |
16: 35,518,379 (GRCm39) |
F445L |
probably benign |
Het |
| Slc7a13 |
A |
T |
4: 19,819,212 (GRCm39) |
K137N |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,914,182 (GRCm39) |
T1115S |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,740,928 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,815 (GRCm39) |
F229L |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,397 (GRCm39) |
N118K |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,541,916 (GRCm39) |
K153E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,466,821 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,675,061 (GRCm39) |
D1953G |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,864 (GRCm39) |
S137C |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,580,271 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Snx13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Snx13
|
APN |
12 |
35,148,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01143:Snx13
|
APN |
12 |
35,182,159 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01446:Snx13
|
APN |
12 |
35,174,479 (GRCm39) |
nonsense |
probably null |
|
|
IGL01519:Snx13
|
APN |
12 |
35,188,471 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01902:Snx13
|
APN |
12 |
35,183,306 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01903:Snx13
|
APN |
12 |
35,135,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02146:Snx13
|
APN |
12 |
35,151,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02175:Snx13
|
APN |
12 |
35,182,061 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02197:Snx13
|
APN |
12 |
35,156,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02200:Snx13
|
APN |
12 |
35,136,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Snx13
|
APN |
12 |
35,136,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03171:Snx13
|
APN |
12 |
35,150,539 (GRCm39) |
missense |
probably benign |
0.28 |
|
resistance
|
UTSW |
12 |
35,162,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Snx13
|
UTSW |
12 |
35,182,126 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
P0042:Snx13
|
UTSW |
12 |
35,157,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Snx13
|
UTSW |
12 |
35,151,123 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Snx13
|
UTSW |
12 |
35,151,123 (GRCm39) |
splice site |
probably benign |
|
|
R0344:Snx13
|
UTSW |
12 |
35,136,899 (GRCm39) |
nonsense |
probably null |
|
|
R1335:Snx13
|
UTSW |
12 |
35,182,123 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1451:Snx13
|
UTSW |
12 |
35,128,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1617:Snx13
|
UTSW |
12 |
35,136,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2065:Snx13
|
UTSW |
12 |
35,188,065 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2111:Snx13
|
UTSW |
12 |
35,188,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2385:Snx13
|
UTSW |
12 |
35,169,792 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2437:Snx13
|
UTSW |
12 |
35,132,926 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2511:Snx13
|
UTSW |
12 |
35,188,080 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2860:Snx13
|
UTSW |
12 |
35,188,116 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2861:Snx13
|
UTSW |
12 |
35,188,116 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2862:Snx13
|
UTSW |
12 |
35,188,116 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2992:Snx13
|
UTSW |
12 |
35,155,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Snx13
|
UTSW |
12 |
35,194,096 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4304:Snx13
|
UTSW |
12 |
35,172,941 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4532:Snx13
|
UTSW |
12 |
35,194,219 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4692:Snx13
|
UTSW |
12 |
35,136,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4783:Snx13
|
UTSW |
12 |
35,148,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Snx13
|
UTSW |
12 |
35,182,032 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5309:Snx13
|
UTSW |
12 |
35,194,324 (GRCm39) |
nonsense |
probably null |
|
|
R5425:Snx13
|
UTSW |
12 |
35,150,643 (GRCm39) |
nonsense |
probably null |
|
|
R5476:Snx13
|
UTSW |
12 |
35,156,819 (GRCm39) |
splice site |
probably null |
|
|
R5533:Snx13
|
UTSW |
12 |
35,173,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5564:Snx13
|
UTSW |
12 |
35,174,471 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5572:Snx13
|
UTSW |
12 |
35,153,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Snx13
|
UTSW |
12 |
35,190,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6018:Snx13
|
UTSW |
12 |
35,097,318 (GRCm39) |
start gained |
probably benign |
|
|
R6612:Snx13
|
UTSW |
12 |
35,156,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6618:Snx13
|
UTSW |
12 |
35,162,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Snx13
|
UTSW |
12 |
35,190,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6964:Snx13
|
UTSW |
12 |
35,169,788 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7186:Snx13
|
UTSW |
12 |
35,142,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7372:Snx13
|
UTSW |
12 |
35,128,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Snx13
|
UTSW |
12 |
35,183,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7430:Snx13
|
UTSW |
12 |
35,183,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7537:Snx13
|
UTSW |
12 |
35,135,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Snx13
|
UTSW |
12 |
35,136,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Snx13
|
UTSW |
12 |
35,174,534 (GRCm39) |
nonsense |
probably null |
|
|
R7767:Snx13
|
UTSW |
12 |
35,157,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Snx13
|
UTSW |
12 |
35,174,527 (GRCm39) |
missense |
probably benign |
|
|
R7838:Snx13
|
UTSW |
12 |
35,155,174 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7901:Snx13
|
UTSW |
12 |
35,150,624 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8029:Snx13
|
UTSW |
12 |
35,169,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Snx13
|
UTSW |
12 |
35,148,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8961:Snx13
|
UTSW |
12 |
35,155,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Snx13
|
UTSW |
12 |
35,155,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9372:Snx13
|
UTSW |
12 |
35,151,048 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCTTGACACCCATGACTAGCG -3'
(R):5'- CTAGATCCCGGCAAACATCCTTCTC -3'
Sequencing Primer
(F):5'- ACCCATGACTAGCGGCTTG -3'
(R):5'- AAAAGGTTTCTACCAGATCCTCTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation