Incidental Mutation 'R3701:Snx14'
ID 258523
Institutional Source Beutler Lab
Gene Symbol Snx14
Ensembl Gene ENSMUSG00000032422
Gene Name sorting nexin 14
Synonyms YR-14, C330035N22Rik
MMRRC Submission 040694-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3701 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 88258805-88320982 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 88302296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

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 noncoding transcript
Transcript: ENSMUST00000126563
Predicted Effect probably benign
Transcript: ENSMUST00000154586
SMART Domains Protein: ENSMUSP00000133964
Gene: ENSMUSG00000092541

DomainStartEndE-ValueType
low complexity region 1 20 N/A INTRINSIC
low complexity region 24 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165315
SMART Domains Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422

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 probably benign
Transcript: ENSMUST00000173011
SMART Domains Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422

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: ENSMUST00000174806
SMART Domains Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422

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
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A C 15: 74,416,864 (GRCm39) K757T probably damaging Het
Akr1c19 C T 13: 4,293,032 (GRCm39) R263C probably damaging Het
Asxl1 A G 2: 153,241,264 (GRCm39) T605A probably benign Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Clip4 A G 17: 72,106,003 (GRCm39) D62G probably damaging Het
Cstf1 A G 2: 172,222,312 (GRCm39) T357A probably benign Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Cyld T A 8: 89,456,179 (GRCm39) S407T probably benign Het
Dnph1 G A 17: 46,809,637 (GRCm39) G101S possibly damaging Het
Entrep1 T C 19: 23,956,831 (GRCm39) E354G probably benign Het
Esp38 A T 17: 40,266,112 (GRCm39) R74* probably null Het
Fdxr A T 11: 115,160,527 (GRCm39) L336Q probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Itgb1bp2 T C X: 100,495,293 (GRCm39) probably benign Het
Kcnj5 T C 9: 32,229,124 (GRCm39) T25A possibly damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Nbeal1 C T 1: 60,290,572 (GRCm39) probably benign Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Or14j3 G A 17: 37,900,717 (GRCm39) Q176* probably null Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Or9i14 T G 19: 13,792,712 (GRCm39) I81L probably benign Het
Pdgfra T A 5: 75,340,881 (GRCm39) Y613* probably null Het
Phka2 T C X: 159,316,045 (GRCm39) V230A possibly damaging Het
Pkd2l1 A G 19: 44,145,666 (GRCm39) S186P probably damaging Het
Skic3 T C 13: 76,261,798 (GRCm39) I171T probably benign Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tmf1 A G 6: 97,149,292 (GRCm39) F485S possibly damaging Het
Tnfsf4 G A 1: 161,244,778 (GRCm39) V156I possibly damaging Het
Trdn C A 10: 33,210,980 (GRCm39) Q391K probably damaging Het
Ttc34 T C 4: 154,949,939 (GRCm39) F964S probably damaging Het
Vmn2r104 A G 17: 20,249,818 (GRCm39) S818P probably damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp446 G A 7: 12,712,079 (GRCm39) probably benign Het
Zfp592 C T 7: 80,687,159 (GRCm39) R821* probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Zfp983 G C 17: 21,880,455 (GRCm39) E128Q 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
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
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'- CAGCAGCTTCAGAGAACTCATC -3'
(R):5'- GTAAACGGCATAGGTAAGTTACAC -3'

Sequencing Primer
(F):5'- AGCTTCAGAGAACTCATCCTTGTAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2015-01-23