Incidental Mutation 'R6823:Snx14'
| ID |
537744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx14
|
| Ensembl Gene |
ENSMUSG00000032422 |
| Gene Name |
sorting nexin 14 |
| Synonyms |
C330035N22Rik, YR-14 |
| MMRRC Submission |
044935-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88376750-88438958 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88394382 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 617
(N617D)
|
| 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: N617D
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: N617D
| 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 |
possibly damaging
Transcript: ENSMUST00000173039
AA Change: N573D
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: N573D
| 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: N626D
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: N626D
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (81/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
T |
G |
15: 64,754,886 |
|
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,557,081 |
F1537L |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,364,723 |
S384G |
probably benign |
Het |
| Anxa8 |
A |
T |
14: 34,094,765 |
D204V |
possibly damaging |
Het |
| Asap3 |
A |
T |
4: 136,227,572 |
E71V |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,119,746 |
*773W |
probably null |
Het |
| Bckdhb |
T |
C |
9: 83,953,761 |
V106A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,981,459 |
D1010G |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,734,736 |
L243Q |
probably damaging |
Het |
| Cib2 |
G |
T |
9: 54,549,891 |
L30I |
possibly damaging |
Het |
| Cpsf7 |
T |
A |
19: 10,532,884 |
L113* |
probably null |
Het |
| Cubn |
T |
A |
2: 13,445,029 |
I895L |
probably benign |
Het |
| Cyp24a1 |
C |
A |
2: 170,487,979 |
R351I |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 27,034,156 |
D320V |
possibly damaging |
Het |
| Dact1 |
C |
G |
12: 71,317,939 |
P498R |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 37,876,383 |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,456,704 |
I3198N |
probably benign |
Het |
| Dopey2 |
A |
T |
16: 93,755,485 |
I271F |
possibly damaging |
Het |
| Erich3 |
C |
A |
3: 154,727,437 |
F349L |
probably damaging |
Het |
| Fam187b |
G |
C |
7: 30,989,290 |
V358L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,983,939 |
H3913Q |
probably benign |
Het |
| Fbxw7 |
G |
C |
3: 84,958,627 |
E118D |
probably benign |
Het |
| Fgf1 |
A |
G |
18: 38,847,108 |
I71T |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,065,217 |
I2007K |
probably damaging |
Het |
| Galnt2 |
C |
G |
8: 124,324,011 |
P130A |
probably benign |
Het |
| H1fx |
G |
A |
6: 87,981,302 |
R19C |
probably damaging |
Het |
| Hmga2 |
A |
C |
10: 120,476,024 |
S14A |
possibly damaging |
Het |
| Hoxb4 |
C |
T |
11: 96,318,654 |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,565,374 |
I756F |
probably damaging |
Het |
| Hrasls5 |
A |
T |
19: 7,639,496 |
|
probably benign |
Het |
| Hspa1b |
A |
T |
17: 34,958,185 |
S275T |
probably benign |
Het |
| Ikbkap |
A |
G |
4: 56,787,939 |
Y331H |
probably damaging |
Het |
| Kcnh1 |
T |
C |
1: 192,505,289 |
*99R |
probably null |
Het |
| Kit |
C |
A |
5: 75,652,649 |
L864I |
probably benign |
Het |
| Klk14 |
A |
T |
7: 43,694,456 |
K196* |
probably null |
Het |
| Lmod1 |
A |
G |
1: 135,325,167 |
N53S |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,356,158 |
M1235T |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,268,704 |
K175* |
probably null |
Het |
| Nlgn2 |
T |
A |
11: 69,825,924 |
K597M |
probably damaging |
Het |
| Npdc1 |
T |
C |
2: 25,409,109 |
M306T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,067,943 |
|
probably null |
Het |
| Olfr404-ps1 |
T |
C |
11: 74,239,696 |
L44P |
probably damaging |
Het |
| Olfr553 |
G |
A |
7: 102,614,486 |
L168F |
probably damaging |
Het |
| Olfr913 |
T |
C |
9: 38,594,905 |
I228T |
possibly damaging |
Het |
| Pbrm1 |
A |
T |
14: 31,084,790 |
Y1042F |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,677,907 |
|
probably benign |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 |
|
probably benign |
Het |
| Phf12 |
C |
T |
11: 78,022,511 |
Q430* |
probably null |
Het |
| Pld3 |
C |
T |
7: 27,535,897 |
R302H |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,525,858 |
S112P |
probably benign |
Het |
| Pmfbp1 |
T |
A |
8: 109,530,307 |
S548T |
possibly damaging |
Het |
| Ppa1 |
A |
T |
10: 61,667,603 |
I220F |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,078 |
|
probably benign |
Het |
| Psmg2 |
A |
T |
18: 67,648,857 |
E164D |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,443,824 |
R155G |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,136,609 |
L162S |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,579,906 |
|
probably benign |
Het |
| Rtkn2 |
G |
A |
10: 68,026,632 |
V330M |
probably damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,311,498 |
I472F |
probably benign |
Het |
| Spire2 |
T |
C |
8: 123,356,727 |
V150A |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,114,787 |
R1904M |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 110,281,303 |
E575G |
possibly damaging |
Het |
| Tbxas1 |
A |
T |
6: 38,919,153 |
M1L |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,256,837 |
V1688D |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,149,914 |
S207T |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,267,282 |
F248L |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,181,199 |
L170P |
probably damaging |
Het |
| Tmem63a |
A |
T |
1: 180,960,470 |
Y263F |
possibly damaging |
Het |
| Tnfsf9 |
C |
A |
17: 57,105,513 |
L28I |
probably benign |
Het |
| Tph2 |
T |
A |
10: 115,174,106 |
N183I |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,122,529 |
I60T |
probably damaging |
Het |
| Ubn1 |
T |
G |
16: 5,064,547 |
S48A |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,989,598 |
N2019S |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 116,086,910 |
N6D |
probably benign |
Het |
| Wdr59 |
T |
A |
8: 111,459,040 |
E810V |
possibly damaging |
Het |
| Wiz |
T |
C |
17: 32,360,421 |
D220G |
probably damaging |
Het |
| Yipf7 |
A |
G |
5: 69,517,070 |
L244P |
probably damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,955,111 |
T366A |
possibly damaging |
Het |
| Zfp169 |
A |
T |
13: 48,490,996 |
|
probably benign |
Het |
| Zfp707 |
C |
T |
15: 75,969,723 |
|
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,649,560 |
H540R |
probably damaging |
Het |
|
| Other mutations in Snx14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Snx14
|
APN |
9 |
88,402,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL00773:Snx14
|
APN |
9 |
88,394,539 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL00847:Snx14
|
APN |
9 |
88,420,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01526:Snx14
|
APN |
9 |
88,381,500 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01662:Snx14
|
APN |
9 |
88,385,838 (GRCm38) |
splice site |
probably benign |
|
|
IGL01928:Snx14
|
APN |
9 |
88,381,512 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02225:Snx14
|
APN |
9 |
88,413,524 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02498:Snx14
|
APN |
9 |
88,407,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02585:Snx14
|
APN |
9 |
88,404,518 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02634:Snx14
|
APN |
9 |
88,403,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03073:Snx14
|
APN |
9 |
88,422,896 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0167:Snx14
|
UTSW |
9 |
88,407,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0324:Snx14
|
UTSW |
9 |
88,405,238 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0627:Snx14
|
UTSW |
9 |
88,394,430 (GRCm38) |
missense |
probably benign |
|
|
R0862:Snx14
|
UTSW |
9 |
88,383,996 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0864:Snx14
|
UTSW |
9 |
88,383,996 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0973:Snx14
|
UTSW |
9 |
88,400,721 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0973:Snx14
|
UTSW |
9 |
88,400,721 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0974:Snx14
|
UTSW |
9 |
88,400,721 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1478:Snx14
|
UTSW |
9 |
88,394,528 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1511:Snx14
|
UTSW |
9 |
88,398,364 (GRCm38) |
nonsense |
probably null |
|
|
R1522:Snx14
|
UTSW |
9 |
88,402,224 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1612:Snx14
|
UTSW |
9 |
88,376,905 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1634:Snx14
|
UTSW |
9 |
88,407,490 (GRCm38) |
splice site |
probably benign |
|
|
R1634:Snx14
|
UTSW |
9 |
88,385,739 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1704:Snx14
|
UTSW |
9 |
88,413,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1713:Snx14
|
UTSW |
9 |
88,415,675 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1883:Snx14
|
UTSW |
9 |
88,402,261 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3701:Snx14
|
UTSW |
9 |
88,420,243 (GRCm38) |
splice site |
probably benign |
|
|
R3853:Snx14
|
UTSW |
9 |
88,407,319 (GRCm38) |
splice site |
probably benign |
|
|
R4301:Snx14
|
UTSW |
9 |
88,410,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4449:Snx14
|
UTSW |
9 |
88,422,999 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4793:Snx14
|
UTSW |
9 |
88,394,442 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4934:Snx14
|
UTSW |
9 |
88,398,288 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5126:Snx14
|
UTSW |
9 |
88,382,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5227:Snx14
|
UTSW |
9 |
88,398,294 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5518:Snx14
|
UTSW |
9 |
88,383,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5838:Snx14
|
UTSW |
9 |
88,391,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5957:Snx14
|
UTSW |
9 |
88,403,274 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R6153:Snx14
|
UTSW |
9 |
88,391,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6156:Snx14
|
UTSW |
9 |
88,407,339 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6703:Snx14
|
UTSW |
9 |
88,422,914 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6784:Snx14
|
UTSW |
9 |
88,381,792 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6837:Snx14
|
UTSW |
9 |
88,380,223 (GRCm38) |
missense |
probably benign |
0.07 |
|
R7169:Snx14
|
UTSW |
9 |
88,398,309 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7216:Snx14
|
UTSW |
9 |
88,381,791 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7224:Snx14
|
UTSW |
9 |
88,394,561 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7357:Snx14
|
UTSW |
9 |
88,404,316 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R7738:Snx14
|
UTSW |
9 |
88,407,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7743:Snx14
|
UTSW |
9 |
88,398,349 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7969:Snx14
|
UTSW |
9 |
88,413,560 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8016:Snx14
|
UTSW |
9 |
88,415,687 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8384:Snx14
|
UTSW |
9 |
88,403,280 (GRCm38) |
nonsense |
probably null |
|
|
R8492:Snx14
|
UTSW |
9 |
88,381,816 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8686:Snx14
|
UTSW |
9 |
88,415,693 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Snx14
|
UTSW |
9 |
88,407,400 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8870:Snx14
|
UTSW |
9 |
88,413,488 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9208:Snx14
|
UTSW |
9 |
88,383,779 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9402:Snx14
|
UTSW |
9 |
88,407,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9620:Snx14
|
UTSW |
9 |
88,381,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTAGATGTCAGGGGTCGG -3'
(R):5'- GTAATGGAGGATGACTCTCCAG -3'
Sequencing Primer
(F):5'- TCAGGGGTCGGGGAGTAC -3'
(R):5'- ATGACTCTCCAGTAGAAGCTGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation