Incidental Mutation 'R8738:Snx14'
ID |
663173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx14
|
Ensembl Gene |
ENSMUSG00000032422 |
Gene Name |
sorting nexin 14 |
Synonyms |
YR-14, C330035N22Rik |
MMRRC Submission |
068585-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8738 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88289453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
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: D266E
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130116 Gene: ENSMUSG00000032422 AA Change: D266E
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 |
possibly damaging
Transcript: ENSMUST00000173011
AA Change: D266E
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133507 Gene: ENSMUSG00000032422 AA Change: D266E
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: D222E
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133624 Gene: ENSMUSG00000032422 AA Change: D222E
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 benign
Transcript: ENSMUST00000174806
AA Change: D266E
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133533 Gene: ENSMUSG00000032422 AA Change: D266E
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (76/78) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
G |
A |
9: 15,196,214 (GRCm39) |
T283M |
probably damaging |
Het |
Abca9 |
A |
G |
11: 110,056,817 (GRCm39) |
M1T |
probably null |
Het |
Ackr1 |
T |
C |
1: 173,159,952 (GRCm39) |
Y189C |
probably damaging |
Het |
Acsm4 |
A |
G |
7: 119,304,264 (GRCm39) |
D303G |
probably benign |
Het |
Arfgef2 |
A |
T |
2: 166,708,867 (GRCm39) |
M1060L |
probably benign |
Het |
Arhgef40 |
T |
A |
14: 52,238,414 (GRCm39) |
F1298I |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,306,674 (GRCm39) |
I1453T |
probably benign |
Het |
B4galnt1 |
A |
T |
10: 127,007,584 (GRCm39) |
D495V |
probably benign |
Het |
Brpf3 |
T |
A |
17: 29,040,214 (GRCm39) |
D878E |
probably benign |
Het |
C3 |
A |
G |
17: 57,511,015 (GRCm39) |
*1664R |
probably null |
Het |
Cap2 |
A |
G |
13: 46,684,548 (GRCm39) |
T73A |
probably benign |
Het |
Ccr6 |
A |
T |
17: 8,475,394 (GRCm39) |
I200F |
probably damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,274,221 (GRCm39) |
G1021R |
probably benign |
Het |
Cidea |
C |
A |
18: 67,499,485 (GRCm39) |
S124* |
probably null |
Het |
Cnst |
C |
A |
1: 179,420,274 (GRCm39) |
T135K |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,936,952 (GRCm39) |
M805K |
probably benign |
Het |
Crybb1 |
A |
G |
5: 112,411,439 (GRCm39) |
Y119C |
probably damaging |
Het |
Cux1 |
G |
T |
5: 136,402,220 (GRCm39) |
T121K |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,049,384 (GRCm39) |
|
probably null |
Het |
Dnmbp |
T |
C |
19: 43,900,677 (GRCm39) |
T48A |
probably damaging |
Het |
Dysf |
G |
A |
6: 84,171,353 (GRCm39) |
G1787E |
probably damaging |
Het |
Gcm2 |
T |
A |
13: 41,258,096 (GRCm39) |
R177S |
probably benign |
Het |
Gdf6 |
G |
T |
4: 9,859,429 (GRCm39) |
R170S |
probably damaging |
Het |
Gm16686 |
A |
T |
4: 88,673,775 (GRCm39) |
M18K |
unknown |
Het |
Gm36864 |
C |
T |
7: 43,886,304 (GRCm39) |
Q179* |
probably null |
Het |
Golgb1 |
A |
G |
16: 36,736,675 (GRCm39) |
D2015G |
probably damaging |
Het |
Gtf2i |
A |
G |
5: 134,324,374 (GRCm39) |
L30P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,798,402 (GRCm39) |
E1955G |
possibly damaging |
Het |
Hes3 |
A |
T |
4: 152,372,132 (GRCm39) |
D37E |
probably damaging |
Het |
Igha |
A |
G |
12: 113,223,144 (GRCm39) |
V161A |
probably damaging |
Het |
Isl2 |
T |
G |
9: 55,452,722 (GRCm39) |
S327A |
probably benign |
Het |
Itk |
A |
G |
11: 46,231,539 (GRCm39) |
L339P |
probably damaging |
Het |
Kcnb2 |
T |
C |
1: 15,780,648 (GRCm39) |
S507P |
probably benign |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lhfpl4 |
C |
A |
6: 113,171,034 (GRCm39) |
V51L |
possibly damaging |
Het |
Lhpp |
A |
G |
7: 132,243,261 (GRCm39) |
Y159C |
probably damaging |
Het |
Lrwd1 |
C |
A |
5: 136,162,257 (GRCm39) |
E159* |
probably null |
Het |
Map3k13 |
A |
G |
16: 21,745,008 (GRCm39) |
T856A |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,665,141 (GRCm39) |
T206A |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,352,436 (GRCm39) |
K1265R |
probably benign |
Het |
Mrgprb2 |
A |
G |
7: 48,202,648 (GRCm39) |
Y26H |
probably benign |
Het |
Mug1 |
T |
C |
6: 121,817,208 (GRCm39) |
|
probably benign |
Het |
Mysm1 |
C |
T |
4: 94,856,196 (GRCm39) |
G134S |
probably damaging |
Het |
Nlrp3 |
A |
C |
11: 59,440,216 (GRCm39) |
I598L |
probably benign |
Het |
Npas2 |
A |
T |
1: 39,331,797 (GRCm39) |
I71F |
possibly damaging |
Het |
Nr1h5 |
A |
G |
3: 102,862,015 (GRCm39) |
S85P |
probably benign |
Het |
Nrcam |
T |
A |
12: 44,619,075 (GRCm39) |
V868D |
possibly damaging |
Het |
Oas1a |
A |
G |
5: 121,040,019 (GRCm39) |
F191L |
probably damaging |
Het |
Or14j8 |
A |
T |
17: 38,263,673 (GRCm39) |
Y81N |
possibly damaging |
Het |
Orc3 |
A |
T |
4: 34,599,778 (GRCm39) |
L125H |
possibly damaging |
Het |
Osbpl7 |
A |
G |
11: 96,946,903 (GRCm39) |
E402G |
possibly damaging |
Het |
Otof |
G |
A |
5: 30,545,968 (GRCm39) |
Q462* |
probably null |
Het |
Phlda2 |
A |
C |
7: 143,055,959 (GRCm39) |
I90S |
probably damaging |
Het |
Plin3 |
C |
T |
17: 56,593,490 (GRCm39) |
V75I |
probably benign |
Het |
Pms1 |
A |
T |
1: 53,321,195 (GRCm39) |
S13T |
possibly damaging |
Het |
Ppm1d |
A |
G |
11: 85,236,732 (GRCm39) |
K504E |
probably damaging |
Het |
Rflna |
A |
T |
5: 125,087,541 (GRCm39) |
I93F |
probably damaging |
Het |
Rnpc3 |
T |
A |
3: 113,414,805 (GRCm39) |
M193L |
probably benign |
Het |
Sema3e |
A |
T |
5: 14,214,169 (GRCm39) |
I145F |
possibly damaging |
Het |
Serpinb1b |
C |
A |
13: 33,271,500 (GRCm39) |
N90K |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,620,345 (GRCm39) |
D538G |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,115,711 (GRCm39) |
T217M |
possibly damaging |
Het |
Taf13 |
T |
C |
3: 108,485,444 (GRCm39) |
M40T |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,523,047 (GRCm39) |
T1530A |
probably damaging |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tnfrsf14 |
T |
C |
4: 155,007,710 (GRCm39) |
I220M |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,484,718 (GRCm39) |
W60R |
probably damaging |
Het |
Tph2 |
A |
T |
10: 115,015,614 (GRCm39) |
|
probably benign |
Het |
Unc13b |
A |
T |
4: 43,177,564 (GRCm39) |
K2797N |
unknown |
Het |
Upf1 |
C |
G |
8: 70,785,973 (GRCm39) |
M995I |
probably benign |
Het |
Upf1 |
G |
A |
8: 70,785,972 (GRCm39) |
P996S |
probably benign |
Het |
Vcan |
C |
T |
13: 89,840,439 (GRCm39) |
V1702M |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,077,020 (GRCm39) |
D382G |
probably benign |
Het |
Xxylt1 |
C |
T |
16: 30,899,964 (GRCm39) |
A64T |
probably benign |
Het |
Zcchc8 |
A |
G |
5: 123,841,070 (GRCm39) |
S407P |
probably damaging |
Het |
Zdhhc19 |
T |
A |
16: 32,317,187 (GRCm39) |
F109Y |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,931,745 (GRCm39) |
|
probably null |
Het |
Zfp691 |
A |
G |
4: 119,027,861 (GRCm39) |
S124P |
probably damaging |
Het |
Zfp804a |
T |
A |
2: 82,089,450 (GRCm39) |
V1093D |
probably damaging |
Het |
Zfp986 |
A |
C |
4: 145,625,550 (GRCm39) |
Q70P |
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 |
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'- CCTAATTATTCTTTCCAGCTGGACAG -3'
(R):5'- TTCTATTCAGAAAGCAGGGGCC -3'
Sequencing Primer
(F):5'- ACCAAACTTGTCTGCAAAGTATG -3'
(R):5'- CCAGGAGAGGAATGAGGAATACATG -3'
|
Posted On |
2021-03-08 |