Incidental Mutation 'R6153:Snx14'
| ID |
489397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
YR-14, C330035N22Rik |
| MMRRC Submission |
044300-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6153 (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 C
at 88273859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 644
(Y644C)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000140439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155008
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165315
AA Change: Y635C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: Y635C
| 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 benign
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 damaging
Transcript: ENSMUST00000173039
AA Change: Y591C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: Y591C
| 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 damaging
Transcript: ENSMUST00000174806
AA Change: Y644C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: Y644C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187610
|
| Meta Mutation Damage Score |
0.9444 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (66/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,251,259 (GRCm39) |
|
probably null |
Het |
| Ache |
T |
C |
5: 137,290,117 (GRCm39) |
I394T |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,232,289 (GRCm39) |
G62D |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,653,899 (GRCm39) |
I34F |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,761,974 (GRCm39) |
I1223T |
possibly damaging |
Het |
| Adora2a |
T |
C |
10: 75,161,981 (GRCm39) |
F40S |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,933,441 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,293,107 (GRCm39) |
L675Q |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,741 (GRCm39) |
I1837V |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,145,109 (GRCm39) |
Y1284C |
probably damaging |
Het |
| B3gnt7 |
G |
T |
1: 86,233,237 (GRCm39) |
G44V |
probably damaging |
Het |
| Chrna1 |
G |
T |
2: 73,403,653 (GRCm39) |
H99N |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,961,204 (GRCm39) |
H220R |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,965,619 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
C |
5: 143,489,096 (GRCm39) |
L651P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,398,974 (GRCm39) |
D231G |
possibly damaging |
Het |
| Ehd4 |
A |
C |
2: 119,932,904 (GRCm39) |
F174C |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,260,060 (GRCm39) |
P9T |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,352,805 (GRCm39) |
E217G |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,524 (GRCm39) |
C199S |
unknown |
Het |
| Gmps |
T |
G |
3: 63,908,964 (GRCm39) |
C489G |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,215,425 (GRCm39) |
Y296H |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,870 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,780,324 (GRCm39) |
W268R |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,773 (GRCm39) |
|
probably null |
Het |
| Itga5 |
T |
A |
15: 103,265,880 (GRCm39) |
I156F |
probably damaging |
Het |
| Kcnmb3 |
T |
A |
3: 32,527,976 (GRCm39) |
D96V |
probably damaging |
Het |
| Khdrbs1 |
T |
A |
4: 129,609,965 (GRCm39) |
N417Y |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,383,454 (GRCm39) |
N118D |
possibly damaging |
Het |
| Mdm4 |
A |
G |
1: 132,919,845 (GRCm39) |
L341P |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,047,797 (GRCm39) |
E225G |
possibly damaging |
Het |
| Megf8 |
G |
A |
7: 25,046,796 (GRCm39) |
G1560S |
possibly damaging |
Het |
| Mfsd13a |
A |
T |
19: 46,356,321 (GRCm39) |
D142V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,181 (GRCm39) |
Y2709F |
possibly damaging |
Het |
| Nelfa |
A |
T |
5: 34,056,223 (GRCm39) |
I480N |
probably damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,944 (GRCm39) |
S240F |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Palld |
G |
T |
8: 62,003,186 (GRCm39) |
N304K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,488,856 (GRCm39) |
L988P |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,251 (GRCm39) |
F34I |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,405,870 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
A |
16: 73,717,617 (GRCm39) |
D141V |
probably damaging |
Het |
| Rsrc1 |
T |
C |
3: 67,262,895 (GRCm39) |
I283T |
probably benign |
Het |
| Sec62 |
A |
T |
3: 30,864,631 (GRCm39) |
K165M |
unknown |
Het |
| Sez6 |
A |
G |
11: 77,868,648 (GRCm39) |
D974G |
probably damaging |
Het |
| Shc2 |
T |
A |
10: 79,465,752 (GRCm39) |
I187F |
possibly damaging |
Het |
| Shroom3 |
G |
A |
5: 93,112,267 (GRCm39) |
R1876Q |
probably damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Skil |
T |
A |
3: 31,152,002 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,886,935 (GRCm39) |
V432A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,591,310 (GRCm39) |
G1374V |
possibly damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,983 (GRCm39) |
I29F |
possibly damaging |
Het |
| Sos1 |
T |
A |
17: 80,756,764 (GRCm39) |
I263L |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,966,028 (GRCm39) |
V320F |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,505,794 (GRCm39) |
S171P |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,893,172 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
G |
A |
6: 127,916,061 (GRCm39) |
S119N |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
| Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
| Zfp976 |
A |
C |
7: 42,263,610 (GRCm39) |
Y76D |
probably damaging |
Het |
| Zkscan2 |
G |
A |
7: 123,088,993 (GRCm39) |
T426I |
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 |
|
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'- TGTACAAACAGCTGCCTTTAAACAC -3'
(R):5'- GGAAATCCACCTGTTTGTTTGACAAC -3'
Sequencing Primer
(F):5'- ACAGCTGCCTTTAAACACTTATC -3'
(R):5'- TGTAATGTAATACCCCCATTT -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation