Incidental Mutation 'R0324:Snx14'
| ID |
64978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| MMRRC Submission |
038534-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0324 (G1)
|
| Quality Score |
88 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 88287291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
Transcript: ENSMUST00000165315
|
| SMART Domains |
Protein: ENSMUSP00000130116
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 |
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 null
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 null
Transcript: ENSMUST00000173039
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
| 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 null
Transcript: ENSMUST00000174806
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
| 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: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 93.1%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,219,989 (GRCm39) |
L357S |
probably benign |
Het |
| 1700129C05Rik |
C |
T |
14: 59,380,256 (GRCm39) |
R14H |
probably damaging |
Het |
| Aatf |
A |
G |
11: 84,402,965 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,247,669 (GRCm39) |
M2472K |
possibly damaging |
Het |
| Abcd3 |
C |
A |
3: 121,562,816 (GRCm39) |
Q540H |
probably null |
Het |
| Adam17 |
C |
T |
12: 21,399,939 (GRCm39) |
V156I |
probably benign |
Het |
| Adam26a |
A |
G |
8: 44,021,490 (GRCm39) |
S667P |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,391,818 (GRCm39) |
K1333E |
probably benign |
Het |
| Apob |
G |
A |
12: 8,060,521 (GRCm39) |
R2968Q |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,106,278 (GRCm39) |
P1522S |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,573 (GRCm39) |
S269C |
probably damaging |
Het |
| Cd209d |
A |
T |
8: 3,928,258 (GRCm39) |
S42R |
probably benign |
Het |
| Cntln |
T |
A |
4: 85,010,932 (GRCm39) |
V1049E |
probably damaging |
Het |
| Cracr2b |
T |
C |
7: 141,043,659 (GRCm39) |
F87L |
probably damaging |
Het |
| Crb3 |
T |
C |
17: 57,372,133 (GRCm39) |
L60P |
probably damaging |
Het |
| Crispld1 |
T |
C |
1: 17,819,815 (GRCm39) |
V271A |
probably benign |
Het |
| Cyp2c66 |
G |
T |
19: 39,165,135 (GRCm39) |
R372L |
probably benign |
Het |
| Deup1 |
G |
A |
9: 15,493,829 (GRCm39) |
R438W |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,150,541 (GRCm39) |
E741K |
possibly damaging |
Het |
| Epha4 |
T |
C |
1: 77,360,188 (GRCm39) |
E703G |
probably damaging |
Het |
| Evc2 |
G |
A |
5: 37,550,443 (GRCm39) |
R819H |
probably damaging |
Het |
| Fam217a |
A |
C |
13: 35,094,944 (GRCm39) |
C272G |
possibly damaging |
Het |
| Fndc7 |
T |
C |
3: 108,784,015 (GRCm39) |
|
probably null |
Het |
| Foxs1 |
C |
T |
2: 152,774,607 (GRCm39) |
G149S |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,744,628 (GRCm39) |
V109A |
probably benign |
Het |
| Hmgxb4 |
G |
A |
8: 75,725,556 (GRCm39) |
M7I |
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,620,165 (GRCm39) |
C209* |
probably null |
Het |
| Klra10 |
A |
G |
6: 130,249,613 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
A |
T |
5: 123,916,175 (GRCm39) |
K701N |
probably damaging |
Het |
| Lpgat1 |
T |
A |
1: 191,481,754 (GRCm39) |
L114Q |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,017,261 (GRCm39) |
Q468L |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,515,476 (GRCm39) |
T70A |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,294,048 (GRCm39) |
Y934* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,537,432 (GRCm39) |
T95A |
probably benign |
Het |
| Mylk3 |
C |
A |
8: 86,079,535 (GRCm39) |
R444S |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,965,369 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,332,032 (GRCm39) |
V2242A |
probably damaging |
Het |
| Nhp2 |
A |
G |
11: 51,513,334 (GRCm39) |
T85A |
possibly damaging |
Het |
| Nlk |
A |
G |
11: 78,463,257 (GRCm39) |
S413P |
possibly damaging |
Het |
| Nmbr |
A |
G |
10: 14,636,192 (GRCm39) |
I54V |
possibly damaging |
Het |
| Nmur2 |
A |
T |
11: 55,931,346 (GRCm39) |
C122S |
probably damaging |
Het |
| Nudt13 |
G |
T |
14: 20,361,583 (GRCm39) |
V220L |
probably damaging |
Het |
| Or5m13 |
G |
A |
2: 85,748,295 (GRCm39) |
V9M |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,719,447 (GRCm39) |
G1195R |
unknown |
Het |
| Pcsk7 |
A |
G |
9: 45,824,309 (GRCm39) |
H276R |
possibly damaging |
Het |
| Pdss2 |
T |
C |
10: 43,269,924 (GRCm39) |
S256P |
probably damaging |
Het |
| Pgf |
G |
T |
12: 85,218,198 (GRCm39) |
H116N |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,302 (GRCm39) |
D242G |
probably benign |
Het |
| Plk2 |
G |
A |
13: 110,534,242 (GRCm39) |
R274K |
probably benign |
Het |
| Ppp6r3 |
G |
T |
19: 3,514,693 (GRCm39) |
P141T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,292,295 (GRCm39) |
T95A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,653 (GRCm39) |
D149G |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,852,057 (GRCm39) |
|
probably null |
Het |
| Rhpn1 |
T |
C |
15: 75,583,437 (GRCm39) |
M334T |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,213,766 (GRCm39) |
T586A |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,764,739 (GRCm39) |
V630M |
probably damaging |
Het |
| Rptor |
C |
T |
11: 119,783,467 (GRCm39) |
R1154W |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,339,778 (GRCm39) |
I192M |
possibly damaging |
Het |
| Sit1 |
G |
A |
4: 43,482,815 (GRCm39) |
Q115* |
probably null |
Het |
| Slc13a2 |
T |
C |
11: 78,295,350 (GRCm39) |
N141S |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,084,344 (GRCm39) |
T78K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,896,346 (GRCm39) |
C944S |
probably benign |
Het |
| Tex56 |
A |
G |
13: 35,108,596 (GRCm39) |
N26S |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,419,893 (GRCm39) |
N675S |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,516 (GRCm39) |
I270T |
possibly damaging |
Het |
| Ugt2a3 |
C |
T |
5: 87,474,932 (GRCm39) |
|
probably null |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r8 |
A |
C |
5: 108,945,807 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
C |
9: 67,871,591 (GRCm39) |
F3253L |
possibly damaging |
Het |
| Zbtb16 |
G |
T |
9: 48,576,575 (GRCm39) |
Q502K |
possibly damaging |
Het |
| Zfp143 |
A |
G |
7: 109,676,354 (GRCm39) |
K218E |
possibly damaging |
Het |
| Zfp946 |
A |
G |
17: 22,673,417 (GRCm39) |
N57S |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,667,314 (GRCm39) |
Y61H |
probably benign |
Het |
| Zkscan1 |
G |
A |
5: 138,095,785 (GRCm39) |
R246Q |
probably damaging |
Het |
| Zpld1 |
A |
G |
16: 55,071,978 (GRCm39) |
F94L |
probably damaging |
Het |
| Zswim5 |
G |
T |
4: 116,844,103 (GRCm39) |
W1047L |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACAGGGCTGTCGTCTATGAAG -3'
(R):5'- GTGCTTGACAATGAGGAACTTGTGC -3'
Sequencing Primer
(F):5'- ggcaaggaaaggactactaaaac -3'
(R):5'- TGCGGGTCACTGATTACAG -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation