Incidental Mutation 'R9402:Snx14'
| ID |
711297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88289490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 254
(G254D)
|
| 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 |
probably damaging
Transcript: ENSMUST00000165315
AA Change: G254D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: G254D
| 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: G254D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
AA Change: G254D
| 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: G210D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: G210D
| 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: G254D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: G254D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,049,154 (GRCm39) |
Q218L |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,614,682 (GRCm39) |
F1083S |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,608,656 (GRCm39) |
N257D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,860,551 (GRCm39) |
M692L |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,215,865 (GRCm39) |
P1530Q |
unknown |
Het |
| Crim1 |
CCGC |
CC |
17: 78,658,294 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,710,183 (GRCm39) |
|
probably null |
Het |
| Daam1 |
A |
G |
12: 72,006,604 (GRCm39) |
T674A |
probably benign |
Het |
| Elp2 |
A |
T |
18: 24,759,220 (GRCm39) |
I526L |
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,453,078 (GRCm39) |
*523K |
probably null |
Het |
| Fbxl7 |
G |
A |
15: 26,552,589 (GRCm39) |
S226L |
probably damaging |
Het |
| Fbxl9 |
T |
A |
8: 106,049,988 (GRCm39) |
Y12F |
probably benign |
Het |
| Fry |
G |
A |
5: 150,357,161 (GRCm39) |
E1903K |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,360,318 (GRCm39) |
R1988K |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,324,016 (GRCm39) |
M206K |
probably damaging |
Het |
| Gbp10 |
T |
A |
5: 105,381,863 (GRCm39) |
T96S |
possibly damaging |
Het |
| Gm14569 |
G |
A |
X: 35,694,549 (GRCm39) |
P1387S |
probably damaging |
Het |
| Gpaa1 |
A |
G |
15: 76,216,418 (GRCm39) |
T105A |
probably benign |
Het |
| Hoxc13 |
C |
A |
15: 102,830,051 (GRCm39) |
C143* |
probably null |
Het |
| Htt |
T |
C |
5: 35,006,324 (GRCm39) |
I1411T |
probably damaging |
Het |
| Inava |
T |
G |
1: 136,155,348 (GRCm39) |
S86R |
probably benign |
Het |
| Jmy |
C |
T |
13: 93,635,678 (GRCm39) |
C46Y |
probably damaging |
Het |
| Klhl40 |
A |
G |
9: 121,609,482 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,210 (GRCm39) |
Y460N |
possibly damaging |
Het |
| Lamb3 |
C |
A |
1: 193,013,704 (GRCm39) |
T526K |
|
Het |
| Luzp1 |
T |
A |
4: 136,270,493 (GRCm39) |
H905Q |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,463 (GRCm39) |
H958Q |
probably benign |
Het |
| Magi1 |
T |
C |
6: 94,260,278 (GRCm39) |
N9S |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,171,119 (GRCm39) |
V231E |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,399,151 (GRCm39) |
M364K |
unknown |
Het |
| Nae1 |
A |
G |
8: 105,254,817 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,718,933 (GRCm39) |
F252S |
|
Het |
| Nlrp9a |
A |
T |
7: 26,270,030 (GRCm39) |
N874I |
possibly damaging |
Het |
| Nodal |
T |
C |
10: 61,259,379 (GRCm39) |
I272T |
probably damaging |
Het |
| Or4a15 |
C |
A |
2: 89,193,123 (GRCm39) |
G217* |
probably null |
Het |
| Or4c12 |
A |
T |
2: 89,774,284 (GRCm39) |
Y58* |
probably null |
Het |
| Or51a24 |
G |
A |
7: 103,733,610 (GRCm39) |
R226* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,988,196 (GRCm39) |
S312P |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,263,369 (GRCm39) |
Q61K |
possibly damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,684,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Pcdhb19 |
C |
T |
18: 37,632,532 (GRCm39) |
Q776* |
probably null |
Het |
| Phf14 |
A |
G |
6: 11,933,779 (GRCm39) |
R214G |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Pigz |
A |
G |
16: 31,764,187 (GRCm39) |
E415G |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,998,026 (GRCm39) |
T406A |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,819,253 (GRCm39) |
E1082G |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,815,031 (GRCm39) |
C445R |
unknown |
Het |
| Scn3b |
A |
T |
9: 40,193,852 (GRCm39) |
E193V |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,510,456 (GRCm39) |
N1315K |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,705 (GRCm39) |
D560G |
probably benign |
Het |
| Srp72 |
T |
A |
5: 77,124,329 (GRCm39) |
L65* |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,664 (GRCm39) |
I95F |
|
Het |
| Taf3 |
A |
G |
2: 9,955,923 (GRCm39) |
|
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,400 (GRCm39) |
N1143D |
|
Het |
| Tas2r114 |
C |
T |
6: 131,666,894 (GRCm39) |
G45S |
possibly damaging |
Het |
| Tcerg1l |
T |
C |
7: 137,811,551 (GRCm39) |
K548E |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,141,505 (GRCm39) |
L328Q |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,623 (GRCm39) |
H1096R |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,709,652 (GRCm39) |
Y233N |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,064 (GRCm39) |
V1303A |
probably benign |
Het |
| Ugt1a2 |
T |
C |
1: 88,128,684 (GRCm39) |
F109S |
possibly damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Zfp748 |
A |
G |
13: 67,693,511 (GRCm39) |
V54A |
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 |
|
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 |
|
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 |
|
R9620:Snx14
|
UTSW |
9 |
88,263,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAATTATTCTTTCCAGCTGGACAG -3'
(R):5'- TTCATGGGAGAGGAGAAAGTCTTC -3'
Sequencing Primer
(F):5'- AGTATGCTCAAAGTGTTTCTGTC -3'
(R):5'- GAGAGGAGAAAGTCTTCCTTTATGTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation