Incidental Mutation 'R1612:Snx14'
ID |
176872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx14
|
Ensembl Gene |
ENSMUSG00000032422 |
Gene Name |
sorting nexin 14 |
Synonyms |
YR-14, C330035N22Rik |
MMRRC Submission |
039649-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1612 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88258805-88320982 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88258958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 973
(M973K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034992]
[ENSMUST00000126405]
[ENSMUST00000165315]
[ENSMUST00000173011]
[ENSMUST00000173039]
[ENSMUST00000174806]
|
AlphaFold |
Q8BHY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034992
|
SMART Domains |
Protein: ENSMUSP00000034992 Gene: ENSMUSG00000032420
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:Metallophos
|
31 |
248 |
2.1e-15 |
PFAM |
Pfam:5_nucleotid_C
|
340 |
515 |
4.9e-45 |
PFAM |
transmembrane domain
|
553 |
575 |
N/A |
INTRINSIC |
|
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 |
noncoding transcript
Transcript: ENSMUST00000140439
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165315
AA Change: M964K
PolyPhen 2
Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130116 Gene: ENSMUSG00000032422 AA Change: M964K
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 |
unknown
Transcript: ENSMUST00000173011
AA Change: M692K
|
SMART Domains |
Protein: ENSMUSP00000133507 Gene: ENSMUSG00000032422 AA Change: M692K
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 |
possibly damaging
Transcript: ENSMUST00000173039
AA Change: M920K
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133624 Gene: ENSMUSG00000032422 AA Change: M920K
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 |
possibly damaging
Transcript: ENSMUST00000174806
AA Change: M973K
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133533 Gene: ENSMUSG00000032422 AA Change: M973K
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 |
|
Meta Mutation Damage Score |
0.1308 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (69/71) |
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 |
4930579G24Rik |
A |
G |
3: 79,538,451 (GRCm39) |
T66A |
probably benign |
Het |
Actb |
A |
G |
5: 142,891,350 (GRCm39) |
F31S |
probably damaging |
Het |
Adamts7 |
T |
C |
9: 90,070,750 (GRCm39) |
S624P |
possibly damaging |
Het |
Adh7 |
T |
C |
3: 137,934,642 (GRCm39) |
I355T |
possibly damaging |
Het |
Arhgef40 |
A |
G |
14: 52,241,538 (GRCm39) |
E106G |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,245 (GRCm39) |
V1483A |
possibly damaging |
Het |
Cabp7 |
T |
C |
11: 4,689,198 (GRCm39) |
D149G |
probably damaging |
Het |
Cass4 |
A |
T |
2: 172,268,998 (GRCm39) |
Q362L |
possibly damaging |
Het |
Cd14 |
G |
A |
18: 36,858,718 (GRCm39) |
Q246* |
probably null |
Het |
Cdr2l |
A |
C |
11: 115,284,232 (GRCm39) |
E189D |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,654,748 (GRCm39) |
V991A |
probably damaging |
Het |
Coq7 |
A |
G |
7: 118,109,134 (GRCm39) |
W305R |
unknown |
Het |
Cracr2a |
G |
T |
6: 127,580,892 (GRCm39) |
G23* |
probably null |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,947,366 (GRCm39) |
L40P |
possibly damaging |
Het |
Eps8 |
G |
A |
6: 137,477,616 (GRCm39) |
P531S |
probably benign |
Het |
Faap100 |
C |
A |
11: 120,267,914 (GRCm39) |
L286F |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,194,824 (GRCm39) |
C1446S |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,795,454 (GRCm39) |
V127A |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,490 (GRCm39) |
D1261G |
probably damaging |
Het |
Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
Gbp11 |
G |
T |
5: 105,474,462 (GRCm39) |
Q405K |
possibly damaging |
Het |
Gdi2 |
T |
A |
13: 3,610,051 (GRCm39) |
V260E |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,633,033 (GRCm39) |
V98M |
possibly damaging |
Het |
Gm13741 |
T |
C |
2: 87,486,431 (GRCm39) |
Y278C |
probably damaging |
Het |
Gm7732 |
G |
A |
17: 21,350,177 (GRCm39) |
|
noncoding transcript |
Het |
Gnptab |
T |
A |
10: 88,264,344 (GRCm39) |
|
probably null |
Het |
Hbs1l |
T |
G |
10: 21,234,734 (GRCm39) |
F596V |
probably damaging |
Het |
Krt78 |
A |
T |
15: 101,860,279 (GRCm39) |
|
probably null |
Het |
Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
Lcmt2 |
T |
C |
2: 120,969,601 (GRCm39) |
Y274C |
probably damaging |
Het |
Limd1 |
A |
G |
9: 123,347,219 (GRCm39) |
Y620C |
probably damaging |
Het |
Lvrn |
G |
T |
18: 47,027,770 (GRCm39) |
A862S |
probably damaging |
Het |
Map4k2 |
A |
G |
19: 6,393,371 (GRCm39) |
E206G |
probably damaging |
Het |
Med16 |
A |
G |
10: 79,735,079 (GRCm39) |
S461P |
probably damaging |
Het |
Mrfap1 |
C |
A |
5: 36,953,706 (GRCm39) |
A78S |
probably damaging |
Het |
Nav2 |
T |
A |
7: 49,220,959 (GRCm39) |
N1715K |
probably damaging |
Het |
Ndc1 |
A |
G |
4: 107,252,265 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
G |
T |
14: 16,290,867 (GRCm38) |
G450* |
probably null |
Het |
Or13c25 |
T |
A |
4: 52,911,501 (GRCm39) |
M98L |
probably benign |
Het |
Or5k3 |
T |
C |
16: 58,969,987 (GRCm39) |
M258T |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,118,791 (GRCm39) |
Y643* |
probably null |
Het |
Pdilt |
T |
G |
7: 119,086,198 (GRCm39) |
N506H |
possibly damaging |
Het |
Pear1 |
C |
T |
3: 87,659,160 (GRCm39) |
|
probably null |
Het |
Pfkp |
A |
T |
13: 6,638,625 (GRCm39) |
M582K |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,403,820 (GRCm39) |
F251I |
probably benign |
Het |
Plk3 |
A |
G |
4: 116,989,004 (GRCm39) |
Y252H |
probably damaging |
Het |
Prdx3 |
A |
G |
19: 60,862,872 (GRCm39) |
S12P |
possibly damaging |
Het |
Prkag2 |
T |
C |
5: 25,082,026 (GRCm39) |
I96V |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,068,889 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,544,172 (GRCm39) |
V146M |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,998,138 (GRCm39) |
D164G |
probably damaging |
Het |
Slc35d2 |
T |
C |
13: 64,259,324 (GRCm39) |
|
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,718,008 (GRCm39) |
N316D |
probably damaging |
Het |
Sptan1 |
C |
G |
2: 29,893,348 (GRCm39) |
R1126G |
probably damaging |
Het |
Stpg3 |
T |
C |
2: 25,103,866 (GRCm39) |
T157A |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,580,715 (GRCm39) |
M259K |
possibly damaging |
Het |
Tomm40l |
A |
T |
1: 171,049,471 (GRCm39) |
|
probably null |
Het |
Tsen34 |
G |
T |
7: 3,698,395 (GRCm39) |
G180W |
probably damaging |
Het |
Ube2l6 |
C |
T |
2: 84,636,717 (GRCm39) |
R54W |
probably damaging |
Het |
Vdac1 |
A |
T |
11: 52,274,897 (GRCm39) |
T182S |
probably benign |
Het |
Wdr3 |
T |
C |
3: 100,058,515 (GRCm39) |
|
probably benign |
Het |
Wsb1 |
T |
A |
11: 79,139,411 (GRCm39) |
Q95L |
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 |
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'- ATGCACACTGCACATACAGAGAGG -3'
(R):5'- AGGGAAACCAGATTTTGGCTGTTCATC -3'
Sequencing Primer
(F):5'- gagagggagggagagagaag -3'
(R):5'- tgtgtgtgtgtgtgtttgtg -3'
|
Posted On |
2014-04-24 |