Incidental Mutation 'IGL02634:Snx14'
| ID |
301436 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02634
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88285356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 436
(I436T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133533
(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 |
noncoding transcript
Transcript: ENSMUST00000140439
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165315
AA Change: I436T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: I436T
| 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 damaging
Transcript: ENSMUST00000173011
AA Change: I436T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
AA Change: I436T
| 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 damaging
Transcript: ENSMUST00000173039
AA Change: I392T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: I392T
| 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 |
probably benign
Transcript: ENSMUST00000173131
|
| SMART Domains |
Protein: ENSMUSP00000134122
Gene: ENSMUSG00000092541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174806
AA Change: I436T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: I436T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
T |
A |
11: 50,683,548 (GRCm39) |
C943* |
probably null |
Het |
| Arhgef28 |
A |
T |
13: 98,187,566 (GRCm39) |
V243D |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,038,884 (GRCm39) |
I62K |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,427,863 (GRCm39) |
T416A |
probably benign |
Het |
| AW209491 |
A |
G |
13: 14,812,268 (GRCm39) |
T374A |
probably damaging |
Het |
| Brcc3 |
T |
C |
X: 74,479,704 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
T |
G |
1: 164,107,514 (GRCm39) |
S66A |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,320 (GRCm39) |
I435T |
probably benign |
Het |
| Cdc14b |
C |
A |
13: 64,364,117 (GRCm39) |
|
probably benign |
Het |
| Chst5 |
A |
G |
8: 112,617,477 (GRCm39) |
S48P |
probably damaging |
Het |
| Ciita |
C |
A |
16: 10,326,577 (GRCm39) |
S253Y |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,533 (GRCm39) |
R1005H |
probably damaging |
Het |
| Dsg4 |
A |
T |
18: 20,591,637 (GRCm39) |
I459F |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,103,506 (GRCm39) |
E361G |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,310,422 (GRCm39) |
D280G |
probably benign |
Het |
| Fignl1 |
G |
A |
11: 11,752,756 (GRCm39) |
R100* |
probably null |
Het |
| Ggcx |
G |
T |
6: 72,395,286 (GRCm39) |
A126S |
probably damaging |
Het |
| Hdgfl1 |
A |
G |
13: 26,953,786 (GRCm39) |
S96P |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,764,622 (GRCm39) |
L1541F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,145,289 (GRCm39) |
E888G |
possibly damaging |
Het |
| Kank4 |
T |
A |
4: 98,667,064 (GRCm39) |
Q461L |
probably benign |
Het |
| Klhl20 |
C |
T |
1: 160,925,935 (GRCm39) |
V438M |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,620,171 (GRCm39) |
S27R |
probably damaging |
Het |
| Ksr2 |
T |
C |
5: 117,901,394 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,389,938 (GRCm39) |
S1829N |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,945,611 (GRCm39) |
L4585P |
probably damaging |
Het |
| Or5p57 |
T |
C |
7: 107,665,978 (GRCm39) |
N9S |
probably benign |
Het |
| Palm3 |
T |
G |
8: 84,755,494 (GRCm39) |
S335R |
probably damaging |
Het |
| Pcsk7 |
C |
T |
9: 45,830,560 (GRCm39) |
A446V |
possibly damaging |
Het |
| Penk |
A |
G |
4: 4,134,065 (GRCm39) |
L194P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,403,063 (GRCm39) |
F2255S |
probably damaging |
Het |
| Plcd3 |
G |
A |
11: 102,968,653 (GRCm39) |
S31F |
probably damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,055 (GRCm39) |
L33P |
possibly damaging |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,680 (GRCm39) |
Q456* |
probably null |
Het |
| Rbbp8nl |
T |
C |
2: 179,922,688 (GRCm39) |
D235G |
probably benign |
Het |
| Ror1 |
T |
A |
4: 100,283,307 (GRCm39) |
N457K |
probably benign |
Het |
| Rpgrip1l |
C |
A |
8: 91,951,972 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,595,787 (GRCm39) |
F148L |
probably benign |
Het |
| Slc45a2 |
A |
T |
15: 11,023,440 (GRCm39) |
H348L |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,977,498 (GRCm39) |
A28T |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,080,035 (GRCm39) |
R1088H |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,535,366 (GRCm39) |
Y422H |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,108,345 (GRCm39) |
I503F |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,961,382 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,896,871 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R7224:Snx14
|
UTSW |
9 |
88,276,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation