Incidental Mutation 'R7357:Snx14'
ID |
571037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx14
|
Ensembl Gene |
ENSMUSG00000032422 |
Gene Name |
sorting nexin 14 |
Synonyms |
YR-14, C330035N22Rik |
MMRRC Submission |
045443-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7357 (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 88286369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 393
(C393S)
|
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: C393S
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130116 Gene: ENSMUSG00000032422 AA Change: C393S
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: C393S
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133507 Gene: ENSMUSG00000032422 AA Change: C393S
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: C349S
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133624 Gene: ENSMUSG00000032422 AA Change: C349S
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 |
possibly damaging
Transcript: ENSMUST00000174806
AA Change: C393S
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133533 Gene: ENSMUSG00000032422 AA Change: C393S
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: 99.2%
|
Validation Efficiency |
97% (64/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
A |
T |
2: 155,845,787 (GRCm39) |
H23Q |
unknown |
Het |
9530068E07Rik |
A |
T |
11: 52,297,821 (GRCm39) |
K233I |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,350,408 (GRCm39) |
M320V |
possibly damaging |
Het |
C2cd3 |
A |
G |
7: 100,079,310 (GRCm39) |
N838S |
|
Het |
Cacna1s |
T |
C |
1: 135,998,759 (GRCm39) |
F218S |
probably damaging |
Het |
Carmil3 |
G |
T |
14: 55,728,590 (GRCm39) |
|
probably benign |
Het |
Cd300a |
A |
T |
11: 114,784,153 (GRCm39) |
T54S |
probably benign |
Het |
Celf3 |
G |
A |
3: 94,387,637 (GRCm39) |
E70K |
probably damaging |
Het |
Celsr1 |
A |
C |
15: 85,914,715 (GRCm39) |
M1086R |
probably benign |
Het |
Ces2f |
G |
A |
8: 105,676,595 (GRCm39) |
M96I |
probably benign |
Het |
Chrdl2 |
G |
A |
7: 99,678,414 (GRCm39) |
V329I |
probably benign |
Het |
Ctc1 |
T |
A |
11: 68,925,568 (GRCm39) |
L1035Q |
probably benign |
Het |
Dbi |
A |
G |
1: 120,047,623 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
G |
9: 106,882,568 (GRCm39) |
I405T |
probably benign |
Het |
Dpp4 |
A |
T |
2: 62,217,421 (GRCm39) |
W59R |
probably benign |
Het |
Dsg3 |
T |
A |
18: 20,672,840 (GRCm39) |
I837N |
probably damaging |
Het |
Fbxw15 |
A |
G |
9: 109,387,308 (GRCm39) |
V229A |
probably benign |
Het |
Fermt3 |
T |
C |
19: 6,980,211 (GRCm39) |
T395A |
probably benign |
Het |
Focad |
A |
T |
4: 88,147,572 (GRCm39) |
I404F |
probably benign |
Het |
Gm8104 |
T |
C |
14: 42,959,068 (GRCm39) |
I86T |
probably damaging |
Het |
Gm9857 |
A |
C |
3: 108,847,478 (GRCm39) |
L95R |
unknown |
Het |
Hoxa1 |
A |
T |
6: 52,133,929 (GRCm39) |
S266T |
probably benign |
Het |
Kif19b |
A |
G |
5: 140,480,806 (GRCm39) |
R979G |
possibly damaging |
Het |
Leng8 |
T |
A |
7: 4,147,932 (GRCm39) |
Y625* |
probably null |
Het |
Mast3 |
A |
G |
8: 71,237,503 (GRCm39) |
V557A |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,442,953 (GRCm39) |
F813L |
probably benign |
Het |
Ntf3 |
T |
A |
6: 126,078,961 (GRCm39) |
I182F |
probably damaging |
Het |
Nup153 |
G |
T |
13: 46,870,642 (GRCm39) |
A91E |
probably benign |
Het |
Or13l2 |
G |
C |
3: 97,317,971 (GRCm39) |
N175K |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,978 (GRCm39) |
D212E |
probably damaging |
Het |
Pamr1 |
G |
A |
2: 102,417,049 (GRCm39) |
W120* |
probably null |
Het |
Pcsk1 |
A |
G |
13: 75,274,079 (GRCm39) |
N436S |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,622,857 (GRCm39) |
K1451E |
probably benign |
Het |
Pebp4 |
G |
A |
14: 70,285,864 (GRCm39) |
V176I |
possibly damaging |
Het |
Phgdh |
G |
A |
3: 98,247,138 (GRCm39) |
A4V |
probably benign |
Het |
Pik3c2g |
T |
C |
6: 139,610,791 (GRCm39) |
|
probably null |
Het |
Ppic |
T |
C |
18: 53,544,139 (GRCm39) |
Y82C |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,686,941 (GRCm39) |
V94A |
possibly damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,895,424 (GRCm39) |
V704A |
probably benign |
Het |
Pramel6 |
G |
T |
2: 87,340,856 (GRCm39) |
R396L |
not run |
Het |
Prss48 |
A |
T |
3: 85,904,528 (GRCm39) |
D223E |
probably damaging |
Het |
Psd3 |
T |
C |
8: 68,574,149 (GRCm39) |
K11E |
probably benign |
Het |
Rabgap1l |
T |
C |
1: 160,169,608 (GRCm39) |
K780E |
probably damaging |
Het |
Retreg1 |
A |
T |
15: 25,972,029 (GRCm39) |
D323V |
probably damaging |
Het |
Samd11 |
A |
T |
4: 156,340,067 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
T |
A |
11: 4,020,127 (GRCm39) |
F188Y |
probably benign |
Het |
Serpina5 |
A |
T |
12: 104,069,639 (GRCm39) |
T284S |
possibly damaging |
Het |
Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
Sis |
A |
T |
3: 72,832,404 (GRCm39) |
V1035D |
probably damaging |
Het |
Slco4a1 |
A |
G |
2: 180,113,930 (GRCm39) |
I456V |
probably benign |
Het |
Stil |
T |
C |
4: 114,871,423 (GRCm39) |
|
probably null |
Het |
Sult6b1 |
A |
G |
17: 79,202,059 (GRCm39) |
S148P |
probably damaging |
Het |
Sycp2 |
G |
T |
2: 178,045,597 (GRCm39) |
|
probably null |
Het |
Tesmin |
T |
C |
19: 3,447,042 (GRCm39) |
I273T |
probably benign |
Het |
Tmem39a |
T |
A |
16: 38,406,592 (GRCm39) |
Y310N |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,041,781 (GRCm39) |
D1258E |
probably damaging |
Het |
Ttc12 |
A |
C |
9: 49,349,687 (GRCm39) |
D703E |
probably benign |
Het |
Unc13c |
TATAA |
TATAATAA |
9: 73,840,810 (GRCm39) |
|
probably benign |
Het |
Unc13c |
ATA |
ATAGTA |
9: 73,840,811 (GRCm39) |
|
probably benign |
Het |
Usp18 |
T |
C |
6: 121,230,808 (GRCm39) |
I79T |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,333,656 (GRCm39) |
D1596E |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,536 (GRCm39) |
V607E |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,275,641 (GRCm39) |
R808K |
probably null |
Het |
Zfp248 |
A |
G |
6: 118,406,618 (GRCm39) |
Y324H |
probably damaging |
Het |
Zfp513 |
G |
A |
5: 31,357,132 (GRCm39) |
P387S |
possibly 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 |
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 |
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'- GCTACTAGAATCTGACTGCAGGC -3'
(R):5'- CCATCCGTGAGTGTTTTCAGC -3'
Sequencing Primer
(F):5'- CTGACTGCAGGCAATGTTAC -3'
(R):5'- ATCCGTGAGTGTTTTCAGCATTAATG -3'
|
Posted On |
2019-09-13 |