Incidental Mutation 'R6156:Snx14'
ID |
489594 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx14
|
Ensembl Gene |
ENSMUSG00000032422 |
Gene Name |
sorting nexin 14 |
Synonyms |
YR-14, C330035N22Rik |
MMRRC Submission |
044303-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6156 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88289392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 287
(A287T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133507
(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: A287T
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130116 Gene: ENSMUSG00000032422 AA Change: A287T
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: A287T
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133507 Gene: ENSMUSG00000032422 AA Change: A287T
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: A243T
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133624 Gene: ENSMUSG00000032422 AA Change: A243T
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: A287T
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133533 Gene: ENSMUSG00000032422 AA Change: A287T
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
T |
G |
15: 64,689,488 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,737,886 (GRCm39) |
D2579G |
probably damaging |
Het |
Atp6v1b1 |
G |
C |
6: 83,735,115 (GRCm39) |
G423R |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,191,801 (GRCm39) |
N644S |
probably benign |
Het |
Bhmt1b |
C |
A |
18: 87,775,231 (GRCm39) |
Y251* |
probably null |
Het |
Capsl |
T |
G |
15: 9,465,920 (GRCm39) |
M132R |
probably damaging |
Het |
Cep120 |
A |
G |
18: 53,836,295 (GRCm39) |
Y797H |
probably benign |
Het |
Cimip4 |
T |
C |
15: 78,263,013 (GRCm39) |
T214A |
probably damaging |
Het |
Clec2e |
T |
A |
6: 129,072,061 (GRCm39) |
D106V |
possibly damaging |
Het |
Col6a2 |
C |
T |
10: 76,440,004 (GRCm39) |
V634I |
possibly damaging |
Het |
Dis3 |
T |
C |
14: 99,336,215 (GRCm39) |
E97G |
probably benign |
Het |
Dlec1 |
T |
C |
9: 118,939,281 (GRCm39) |
|
probably null |
Het |
Dock2 |
C |
A |
11: 34,197,789 (GRCm39) |
V1484F |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,816 (GRCm39) |
M593L |
probably benign |
Het |
Fcgrt |
T |
C |
7: 44,751,484 (GRCm39) |
T125A |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,359,319 (GRCm39) |
I98T |
probably benign |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gfod1 |
T |
C |
13: 43,354,514 (GRCm39) |
S154G |
possibly damaging |
Het |
Ggt5 |
C |
T |
10: 75,445,160 (GRCm39) |
T389I |
probably damaging |
Het |
Got2 |
A |
G |
8: 96,598,896 (GRCm39) |
F169L |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,215,866 (GRCm39) |
K5E |
possibly damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,437 (GRCm39) |
I417T |
possibly damaging |
Het |
Igkv4-91 |
G |
T |
6: 68,745,607 (GRCm39) |
T97K |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,489,608 (GRCm39) |
Y458H |
possibly damaging |
Het |
Impg1 |
A |
T |
9: 80,230,106 (GRCm39) |
C740S |
probably damaging |
Het |
Itgb1 |
C |
G |
8: 129,458,535 (GRCm39) |
T788R |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,477,907 (GRCm39) |
V143A |
probably damaging |
Het |
Ltbp4 |
G |
T |
7: 27,029,587 (GRCm39) |
T136K |
unknown |
Het |
Macf1 |
A |
G |
4: 123,366,073 (GRCm39) |
I1331T |
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,762,325 (GRCm39) |
A336V |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,071,879 (GRCm39) |
I536F |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,141,618 (GRCm39) |
M826V |
probably benign |
Het |
Naca |
T |
C |
10: 127,875,160 (GRCm39) |
|
probably benign |
Het |
Nr4a2 |
A |
G |
2: 57,002,364 (GRCm39) |
Y30H |
probably damaging |
Het |
Or12j4 |
A |
G |
7: 140,046,758 (GRCm39) |
T215A |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,797,447 (GRCm39) |
Y290* |
probably null |
Het |
Or2n1d |
T |
A |
17: 38,646,064 (GRCm39) |
N5K |
probably damaging |
Het |
Or4a67 |
T |
A |
2: 88,597,934 (GRCm39) |
I242L |
probably benign |
Het |
Or4f14d |
A |
T |
2: 111,960,445 (GRCm39) |
L237Q |
probably damaging |
Het |
Or4k42 |
A |
T |
2: 111,320,095 (GRCm39) |
M136K |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,076,484 (GRCm39) |
V173A |
possibly damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,671 (GRCm39) |
M15L |
possibly damaging |
Het |
Paqr3 |
A |
C |
5: 97,256,128 (GRCm39) |
L82R |
probably damaging |
Het |
Pex6 |
C |
T |
17: 47,031,567 (GRCm39) |
P456S |
probably benign |
Het |
Pih1d2 |
A |
T |
9: 50,532,452 (GRCm39) |
K186I |
possibly damaging |
Het |
Plekhh3 |
A |
G |
11: 101,061,013 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
T |
A |
1: 191,812,142 (GRCm39) |
|
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,429,439 (GRCm39) |
Y403* |
probably null |
Het |
Scn10a |
T |
C |
9: 119,464,649 (GRCm39) |
N984D |
probably benign |
Het |
Stx3 |
T |
C |
19: 11,780,874 (GRCm39) |
D33G |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,227,494 (GRCm39) |
K1393R |
probably damaging |
Het |
Tas2r129 |
T |
C |
6: 132,928,455 (GRCm39) |
S131P |
probably benign |
Het |
Tbx15 |
G |
T |
3: 99,220,431 (GRCm39) |
|
probably null |
Het |
Thada |
A |
G |
17: 84,700,795 (GRCm39) |
V1237A |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,888,589 (GRCm39) |
Y1735H |
probably damaging |
Het |
Ttc22 |
A |
G |
4: 106,495,780 (GRCm39) |
K378R |
probably benign |
Het |
Tubg2 |
A |
G |
11: 101,051,635 (GRCm39) |
K287E |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,310,762 (GRCm39) |
I348T |
possibly damaging |
Het |
Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,651,409 (GRCm39) |
I1585F |
probably benign |
Het |
Vmn2r104 |
T |
C |
17: 20,261,909 (GRCm39) |
Y407C |
probably damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,692,447 (GRCm39) |
L136F |
probably benign |
Het |
Vmn2r38 |
A |
G |
7: 9,097,611 (GRCm39) |
S161P |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,953,606 (GRCm39) |
I590T |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,217,248 (GRCm39) |
E323G |
probably damaging |
Het |
Wdhd1 |
C |
T |
14: 47,505,653 (GRCm39) |
G273D |
probably damaging |
Het |
Xpo6 |
G |
T |
7: 125,708,016 (GRCm39) |
Q851K |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,173,281 (GRCm39) |
C274R |
unknown |
Het |
Zfp64 |
A |
G |
2: 168,768,088 (GRCm39) |
I508T |
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 |
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'- CCTAATTATTCTTTCCAGCTGGACAG -3'
(R):5'- CTATTCAGAAAGCAGGGGCC -3'
Sequencing Primer
(F):5'- ACCAAACTTGTCTGCAAAGTATG -3'
(R):5'- GAGGAATGAGGAATACATGTTCTG -3'
|
Posted On |
2017-10-10 |