Incidental Mutation 'R7224:Snx14'
| ID |
562036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| MMRRC Submission |
045296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88276614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 557
(E557G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126405]
[ENSMUST00000165315]
[ENSMUST00000173011]
[ENSMUST00000173039]
[ENSMUST00000174806]
|
| AlphaFold |
Q8BHY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126405
|
| SMART Domains |
Protein: ENSMUSP00000116773
Gene: ENSMUSG00000032422
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
76 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
157 |
210 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165315
AA Change: E557G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: E557G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
157 |
330 |
8.2e-49 |
PFAM |
|
Pfam:RGS
|
363 |
495 |
4.3e-13 |
PFAM |
|
PX
|
585 |
704 |
8.77e-13 |
SMART |
|
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
825 |
930 |
2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173011
|
| SMART Domains |
Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
157 |
330 |
3.1e-49 |
PFAM |
|
Pfam:RGS
|
363 |
482 |
3.1e-9 |
PFAM |
|
low complexity region
|
499 |
513 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
553 |
658 |
7.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173039
AA Change: E513G
PolyPhen 2
Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: E513G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
154 |
286 |
6.5e-33 |
PFAM |
|
Pfam:RGS
|
319 |
451 |
2.6e-13 |
PFAM |
|
PX
|
541 |
660 |
8.77e-13 |
SMART |
|
low complexity region
|
727 |
741 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
781 |
886 |
1.1e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174806
AA Change: E566G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: E566G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
54 |
73 |
N/A |
INTRINSIC |
|
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
158 |
327 |
1.9e-44 |
PFAM |
|
Pfam:RGS
|
363 |
495 |
1.3e-13 |
PFAM |
|
PX
|
594 |
713 |
8.77e-13 |
SMART |
|
low complexity region
|
780 |
794 |
N/A |
INTRINSIC |
|
Pfam:Nexin_C
|
834 |
938 |
2.8e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.2604 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
99% (79/80) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,943,275 (GRCm39) |
T60M |
probably benign |
Het |
| Actn4 |
C |
T |
7: 28,661,509 (GRCm39) |
A34T |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,041,245 (GRCm39) |
M466V |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,067,868 (GRCm39) |
Y453H |
probably damaging |
Het |
| Amfr |
G |
A |
8: 94,711,484 (GRCm39) |
P351S |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,516,688 (GRCm39) |
T492M |
probably benign |
Het |
| Anxa6 |
A |
G |
11: 54,876,993 (GRCm39) |
F547L |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,318,384 (GRCm39) |
Y394D |
unknown |
Het |
| Atic |
G |
A |
1: 71,610,014 (GRCm39) |
V342I |
probably benign |
Het |
| Atl1 |
C |
A |
12: 70,002,127 (GRCm39) |
T362N |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,447,219 (GRCm39) |
M654L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,503 (GRCm39) |
M241L |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,659,877 (GRCm39) |
V186A |
possibly damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,842 (GRCm39) |
T577A |
probably benign |
Het |
| C8b |
T |
C |
4: 104,637,795 (GRCm39) |
L89P |
probably damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,678 (GRCm39) |
E742* |
probably null |
Het |
| Ccdc162 |
G |
A |
10: 41,437,187 (GRCm39) |
R1741C |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,041,592 (GRCm39) |
V615A |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,047 (GRCm39) |
L395H |
probably damaging |
Het |
| Cnot9 |
A |
G |
1: 74,556,388 (GRCm39) |
T62A |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,441,849 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,436,420 (GRCm39) |
V3974A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,584,196 (GRCm39) |
G533D |
possibly damaging |
Het |
| Eddm13 |
T |
G |
7: 6,271,801 (GRCm39) |
M77R |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,228 (GRCm39) |
S411G |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,782 (GRCm39) |
D725G |
possibly damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,073,595 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
T |
C |
11: 82,783,151 (GRCm39) |
M44T |
probably benign |
Het |
| Gcgr |
A |
T |
11: 120,425,538 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
A |
10: 75,410,110 (GRCm39) |
V14D |
possibly damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,331,447 (GRCm39) |
I198M |
unknown |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm6034 |
T |
A |
17: 36,367,331 (GRCm39) |
S59T |
unknown |
Het |
| Gm6408 |
G |
A |
5: 146,421,180 (GRCm39) |
V270I |
probably benign |
Het |
| Gpr20 |
A |
T |
15: 73,567,981 (GRCm39) |
I136N |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,268,160 (GRCm39) |
E565G |
|
Het |
| Igsf9 |
T |
C |
1: 172,322,349 (GRCm39) |
S515P |
probably damaging |
Het |
| Kbtbd12 |
G |
A |
6: 88,590,965 (GRCm39) |
R416* |
probably null |
Het |
| Kcnd3 |
A |
T |
3: 105,576,400 (GRCm39) |
I615F |
probably damaging |
Het |
| Kcnk7 |
A |
T |
19: 5,756,805 (GRCm39) |
M265L |
probably benign |
Het |
| Klhdc1 |
G |
A |
12: 69,309,923 (GRCm39) |
S275N |
probably damaging |
Het |
| Ldc1 |
C |
G |
4: 130,112,992 (GRCm39) |
A135P |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,302,553 (GRCm39) |
N1871T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,982,134 (GRCm39) |
V169A |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,660,070 (GRCm39) |
I1175T |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,489,369 (GRCm39) |
T537A |
possibly damaging |
Het |
| Mrpl17 |
T |
C |
7: 105,459,209 (GRCm39) |
N129S |
probably damaging |
Het |
| Mup5 |
G |
A |
4: 61,750,622 (GRCm39) |
R174C |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,488,877 (GRCm39) |
R216C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,671 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,974 (GRCm39) |
M74K |
probably damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,912 (GRCm39) |
T55A |
probably benign |
Het |
| Or8b12b |
G |
A |
9: 37,684,711 (GRCm39) |
G252D |
possibly damaging |
Het |
| Osbpl8 |
C |
T |
10: 111,110,872 (GRCm39) |
P458L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,511 (GRCm39) |
E263G |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,895,241 (GRCm39) |
L623P |
|
Het |
| Plxdc1 |
T |
C |
11: 97,823,153 (GRCm39) |
T363A |
possibly damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,287 (GRCm39) |
D111G |
unknown |
Het |
| R3hdm2 |
T |
A |
10: 127,294,022 (GRCm39) |
L172Q |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Rcbtb1 |
C |
G |
14: 59,465,828 (GRCm39) |
I390M |
probably damaging |
Het |
| Romo1 |
G |
A |
2: 155,986,295 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,335,519 (GRCm39) |
Y410H |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,224,724 (GRCm39) |
T327A |
probably benign |
Het |
| Slc30a5 |
A |
G |
13: 100,945,762 (GRCm39) |
V530A |
probably damaging |
Het |
| Slc30a9 |
G |
A |
5: 67,473,044 (GRCm39) |
E43K |
probably benign |
Het |
| Slc38a2 |
A |
C |
15: 96,589,240 (GRCm39) |
L418W |
probably damaging |
Het |
| Spata33 |
T |
A |
8: 123,948,737 (GRCm39) |
I123K |
probably damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,714,839 (GRCm39) |
H170L |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,854 (GRCm39) |
|
probably null |
Het |
| Tsr3 |
A |
T |
17: 25,461,569 (GRCm39) |
E302D |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 43,987,266 (GRCm39) |
T188M |
possibly damaging |
Het |
| Usp44 |
A |
G |
10: 93,681,855 (GRCm39) |
I102V |
probably benign |
Het |
| Wasf1 |
A |
G |
10: 40,802,546 (GRCm39) |
N67S |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,681,208 (GRCm39) |
N911S |
probably benign |
Het |
| Zfp467 |
A |
G |
6: 48,421,903 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Snx14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Snx14
|
APN |
9 |
88,284,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00773:Snx14
|
APN |
9 |
88,276,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00847:Snx14
|
APN |
9 |
88,302,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01526:Snx14
|
APN |
9 |
88,263,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01662:Snx14
|
APN |
9 |
88,267,891 (GRCm39) |
splice site |
probably benign |
|
|
IGL01928:Snx14
|
APN |
9 |
88,263,565 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02225:Snx14
|
APN |
9 |
88,295,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02498:Snx14
|
APN |
9 |
88,289,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Snx14
|
APN |
9 |
88,286,571 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02634:Snx14
|
APN |
9 |
88,285,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Snx14
|
APN |
9 |
88,304,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0167:Snx14
|
UTSW |
9 |
88,289,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Snx14
|
UTSW |
9 |
88,287,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0627:Snx14
|
UTSW |
9 |
88,276,483 (GRCm39) |
missense |
probably benign |
|
|
R0862:Snx14
|
UTSW |
9 |
88,266,049 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0864:Snx14
|
UTSW |
9 |
88,266,049 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0973:Snx14
|
UTSW |
9 |
88,282,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0973:Snx14
|
UTSW |
9 |
88,282,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0974:Snx14
|
UTSW |
9 |
88,282,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1478:Snx14
|
UTSW |
9 |
88,276,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1511:Snx14
|
UTSW |
9 |
88,280,417 (GRCm39) |
nonsense |
probably null |
|
|
R1522:Snx14
|
UTSW |
9 |
88,284,277 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1612:Snx14
|
UTSW |
9 |
88,258,958 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1634:Snx14
|
UTSW |
9 |
88,289,543 (GRCm39) |
splice site |
probably benign |
|
|
R1634:Snx14
|
UTSW |
9 |
88,267,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1704:Snx14
|
UTSW |
9 |
88,295,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Snx14
|
UTSW |
9 |
88,297,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Snx14
|
UTSW |
9 |
88,284,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3701:Snx14
|
UTSW |
9 |
88,302,296 (GRCm39) |
splice site |
probably benign |
|
|
R3853:Snx14
|
UTSW |
9 |
88,289,372 (GRCm39) |
splice site |
probably benign |
|
|
R4301:Snx14
|
UTSW |
9 |
88,292,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4449:Snx14
|
UTSW |
9 |
88,305,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4793:Snx14
|
UTSW |
9 |
88,276,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Snx14
|
UTSW |
9 |
88,280,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5126:Snx14
|
UTSW |
9 |
88,264,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Snx14
|
UTSW |
9 |
88,280,347 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5518:Snx14
|
UTSW |
9 |
88,265,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Snx14
|
UTSW |
9 |
88,273,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Snx14
|
UTSW |
9 |
88,285,327 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6153:Snx14
|
UTSW |
9 |
88,273,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Snx14
|
UTSW |
9 |
88,289,392 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6703:Snx14
|
UTSW |
9 |
88,304,967 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6784:Snx14
|
UTSW |
9 |
88,263,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6823:Snx14
|
UTSW |
9 |
88,276,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6837:Snx14
|
UTSW |
9 |
88,262,276 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7169:Snx14
|
UTSW |
9 |
88,280,362 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Snx14
|
UTSW |
9 |
88,263,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7357:Snx14
|
UTSW |
9 |
88,286,369 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7738:Snx14
|
UTSW |
9 |
88,289,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Snx14
|
UTSW |
9 |
88,280,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7969:Snx14
|
UTSW |
9 |
88,295,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8016:Snx14
|
UTSW |
9 |
88,297,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8384:Snx14
|
UTSW |
9 |
88,285,333 (GRCm39) |
nonsense |
probably null |
|
|
R8492:Snx14
|
UTSW |
9 |
88,263,869 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8686:Snx14
|
UTSW |
9 |
88,297,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Snx14
|
UTSW |
9 |
88,289,453 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8870:Snx14
|
UTSW |
9 |
88,295,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9208:Snx14
|
UTSW |
9 |
88,265,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9402:Snx14
|
UTSW |
9 |
88,289,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Snx14
|
UTSW |
9 |
88,263,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTCTTACCTGCTCGTCTG -3'
(R):5'- GATGCCAGGAGCTTGTTCAG -3'
Sequencing Primer
(F):5'- CGTTTCTTTCAACATCGATACAAAAC -3'
(R):5'- CCAGGAGCTTGTTCAGTTTAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation