Incidental Mutation 'R8686:Snx14'
| ID |
662049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| MMRRC Submission |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8686 (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 A
at 88297746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 174
(N174I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126405]
[ENSMUST00000165315]
[ENSMUST00000173011]
[ENSMUST00000173039]
[ENSMUST00000174806]
|
| AlphaFold |
Q8BHY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126405
AA Change: N174I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116773
Gene: ENSMUSG00000032422
AA Change: N174I
| 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 benign
Transcript: ENSMUST00000154586
|
| SMART Domains |
Protein: ENSMUSP00000133964
Gene: ENSMUSG00000092541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165315
AA Change: N174I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: N174I
| 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: N174I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
AA Change: N174I
| 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
|
| 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 damaging
Transcript: ENSMUST00000174806
AA Change: N174I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: N174I
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,521 (GRCm39) |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,450,207 (GRCm39) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,471,112 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,845,325 (GRCm39) |
R939H |
probably damaging |
Het |
| Cd22 |
G |
A |
7: 30,569,494 (GRCm39) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,801 (GRCm39) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,888 (GRCm39) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,461,147 (GRCm39) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,568,962 (GRCm39) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,048,004 (GRCm39) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,419,754 (GRCm39) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,050,886 (GRCm39) |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 31,075,040 (GRCm39) |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,676,659 (GRCm39) |
L56S |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,760,469 (GRCm39) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,597,997 (GRCm39) |
T644I |
probably benign |
Het |
| G6pc1 |
T |
G |
11: 101,265,533 (GRCm39) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,764,417 (GRCm39) |
S1245P |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,944,524 (GRCm39) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,214 (GRCm39) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,136,627 (GRCm39) |
A525T |
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,945,433 (GRCm39) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,181,305 (GRCm39) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,640,097 (GRCm39) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,693,498 (GRCm39) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,695,193 (GRCm39) |
T327M |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,786,966 (GRCm39) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,419,772 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,573,841 (GRCm39) |
T202A |
possibly damaging |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Or14j7 |
T |
C |
17: 38,235,168 (GRCm39) |
V237A |
probably benign |
Het |
| Or2d4 |
A |
C |
7: 106,543,905 (GRCm39) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,094,856 (GRCm39) |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,758,086 (GRCm39) |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,833,356 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,895,056 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,535,728 (GRCm39) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,147,827 (GRCm39) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,075,172 (GRCm39) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,483,510 (GRCm39) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,658,494 (GRCm39) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,658,746 (GRCm39) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,495,048 (GRCm39) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,382,781 (GRCm39) |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,005,030 (GRCm39) |
V420A |
probably benign |
Het |
| Speer4e1 |
T |
C |
5: 14,984,129 (GRCm39) |
N229S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,427 (GRCm39) |
D128G |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 20,971,685 (GRCm39) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,393,926 (GRCm39) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,178,508 (GRCm39) |
N191S |
probably benign |
Het |
| Tmt1b |
A |
T |
10: 128,796,476 (GRCm39) |
M111K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,651,427 (GRCm39) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,606,616 (GRCm39) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,535 (GRCm39) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,586,821 (GRCm39) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 116,980,594 (GRCm39) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,978,701 (GRCm39) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,133 (GRCm39) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,227 (GRCm39) |
N264D |
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 |
|
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'- GCCCAGTGCACCAATGATTC -3'
(R):5'- GTTCTAAGAGAGACTTCTTTTCTGG -3'
Sequencing Primer
(F):5'- CACATCTTTGGTAGTCAGACTGGAAG -3'
(R):5'- CAGCTATGTAAAGGTGACATA -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation