Incidental Mutation 'IGL02225:Snx14'
ID 285297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx14
Ensembl Gene ENSMUSG00000032422
Gene Name sorting nexin 14
Synonyms YR-14, C330035N22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02225
Quality Score
Status
Chromosome 9
Chromosomal Location 88258805-88320982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88295577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 196 (T196I)
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
AA Change: T196I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116773
Gene: ENSMUSG00000032422
AA Change: T196I

DomainStartEndE-ValueType
transmembrane domain 57 76 N/A INTRINSIC
transmembrane domain 80 102 N/A INTRINSIC
Pfam:PXA 157 210 3.9e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165315
AA Change: T196I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: T196I

DomainStartEndE-ValueType
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: T196I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
AA Change: T196I

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: T196I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: T196I

DomainStartEndE-ValueType
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
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,906,165 (GRCm39) probably null Het
Adgrf4 C A 17: 42,974,269 (GRCm39) probably null Het
Aqp9 A T 9: 71,037,829 (GRCm39) probably benign Het
C1s1 A G 6: 124,518,293 (GRCm39) W8R probably benign Het
Cep43 T G 17: 8,401,251 (GRCm39) D257E probably damaging Het
Cfap43 A G 19: 47,800,616 (GRCm39) I345T probably benign Het
Cwh43 T C 5: 73,578,910 (GRCm39) Y306H probably damaging Het
Cyp4a32 A T 4: 115,467,700 (GRCm39) H228L probably benign Het
Ddx24 A G 12: 103,383,630 (GRCm39) L607P probably damaging Het
Dlg3 A G X: 99,850,794 (GRCm39) K232R probably benign Het
Fig4 A G 10: 41,132,448 (GRCm39) S453P probably benign Het
Frem1 A G 4: 82,858,743 (GRCm39) L1556P probably damaging Het
Gjb2 T C 14: 57,337,645 (GRCm39) K188E probably damaging Het
Gp1bb C A 16: 18,439,650 (GRCm39) W148L possibly damaging Het
Grip1 C T 10: 119,885,358 (GRCm39) T375M probably damaging Het
Hnf1b T C 11: 83,752,611 (GRCm39) L82P probably damaging Het
Jakmip1 T C 5: 37,262,200 (GRCm39) V333A probably damaging Het
Magi1 G T 6: 93,671,007 (GRCm39) R1069S probably damaging Het
Myh15 A T 16: 48,911,526 (GRCm39) E319D probably benign Het
Myl4 A G 11: 104,471,228 (GRCm39) I42V probably benign Het
Obsl1 A T 1: 75,480,442 (GRCm39) V394E probably damaging Het
Or1e1c T A 11: 73,265,904 (GRCm39) F110I probably damaging Het
Or52ab7 A T 7: 102,978,373 (GRCm39) I227F probably damaging Het
Or5w14 C T 2: 87,541,743 (GRCm39) C169Y possibly damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pkd1l3 T C 8: 110,365,310 (GRCm39) Y1144H probably damaging Het
Pogz A G 3: 94,786,327 (GRCm39) K972E probably damaging Het
Sccpdh A G 1: 179,507,264 (GRCm39) T227A probably benign Het
Sec16b A G 1: 157,359,614 (GRCm39) probably benign Het
Slain2 T A 5: 73,098,733 (GRCm39) V163E probably damaging Het
Snx1 G A 9: 66,016,903 (GRCm39) P56L probably benign Het
Sspo T C 6: 48,461,268 (GRCm39) F3570L probably benign Het
Tbrg4 C A 11: 6,574,094 (GRCm39) V43F probably damaging Het
Traf3ip3 A G 1: 192,877,408 (GRCm39) I176T probably benign Het
Trbv20 T A 6: 41,165,241 (GRCm39) probably benign Het
Ubc A T 5: 125,463,197 (GRCm39) V710D probably benign Het
Ugt2b35 T C 5: 87,155,264 (GRCm39) probably benign Het
Zbed5 C T 5: 129,930,974 (GRCm39) probably null Het
Zc3hav1 T C 6: 38,317,276 (GRCm39) Y108C probably damaging Het
Other mutations in Snx14
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16