Incidental Mutation 'R6837:Snx14'
ID 537901
Institutional Source Beutler Lab
Gene Symbol Snx14
Ensembl Gene ENSMUSG00000032422
Gene Name sorting nexin 14
Synonyms YR-14, C330035N22Rik
MMRRC Submission 044945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6837 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 88258805-88320982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88262276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 872 (E872K)
Ref Sequence ENSEMBL: ENSMUSP00000133624 (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 probably benign
Transcript: ENSMUST00000165315
AA Change: E916K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130116
Gene: ENSMUSG00000032422
AA Change: E916K

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 unknown
Transcript: ENSMUST00000173011
AA Change: E644K
SMART Domains Protein: ENSMUSP00000133507
Gene: ENSMUSG00000032422
AA Change: E644K

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
AA Change: E872K

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133624
Gene: ENSMUSG00000032422
AA Change: E872K

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
AA Change: E925K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133533
Gene: ENSMUSG00000032422
AA Change: E925K

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
Meta Mutation Damage Score 0.0745 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (41/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 53,188,045 (GRCm39) E1820K probably damaging Het
Anxa8 A T 14: 33,814,511 (GRCm39) I116F probably damaging Het
Arid4a A G 12: 71,122,289 (GRCm39) D890G probably benign Het
Aup1 C T 6: 83,034,279 (GRCm39) T396I possibly damaging Het
C2cd3 G C 7: 100,097,953 (GRCm39) E594Q probably damaging Het
Colgalt2 C T 1: 152,382,579 (GRCm39) P477L probably damaging Het
Dennd3 G A 15: 73,429,542 (GRCm39) D20N probably damaging Het
Dpysl3 A G 18: 43,570,947 (GRCm39) I109T probably benign Het
Fas A T 19: 34,284,564 (GRCm39) T24S probably damaging Het
Fras1 A T 5: 96,874,832 (GRCm39) I2332F probably damaging Het
Gm10267 T C 18: 44,291,375 (GRCm39) H32R probably benign Het
Gm57859 A G 11: 113,579,439 (GRCm39) H278R possibly damaging Het
Hcfc2 A T 10: 82,575,030 (GRCm39) I230F probably damaging Het
Hdac9 T C 12: 34,337,463 (GRCm39) T673A probably benign Het
Herc2 T G 7: 55,839,589 (GRCm39) N3366K possibly damaging Het
Hhla1 T C 15: 65,820,334 (GRCm39) N139D probably damaging Het
Hip1r A G 5: 124,136,928 (GRCm39) E632G possibly damaging Het
Kcnc2 A G 10: 112,294,407 (GRCm39) D98G probably damaging Het
Maip1 T A 1: 57,454,891 (GRCm39) *292K probably null Het
Map2 T C 1: 66,453,731 (GRCm39) F874L probably damaging Het
Myof A T 19: 37,911,404 (GRCm39) probably null Het
Notch2 A G 3: 97,978,170 (GRCm39) probably null Het
Npy5r T A 8: 67,134,392 (GRCm39) M134L probably benign Het
Ntsr2 T A 12: 16,709,710 (GRCm39) M225K probably benign Het
Nup153 G A 13: 46,847,527 (GRCm39) T634I probably damaging Het
Or51f1d T A 7: 102,700,929 (GRCm39) Y141* probably null Het
Pcsk5 T C 19: 17,416,448 (GRCm39) S1667G probably benign Het
Pex13 A G 11: 23,599,527 (GRCm39) I328T possibly damaging Het
Pkd2 T G 5: 104,624,909 (GRCm39) L235W probably damaging Het
Prune2 A T 19: 17,156,292 (GRCm39) D66V probably damaging Het
Rasal3 T C 17: 32,622,044 (GRCm39) N105S probably benign Het
Sla A T 15: 66,658,939 (GRCm39) I144N probably damaging Het
Slc5a4b A T 10: 75,898,220 (GRCm39) I498N possibly damaging Het
Stx16 G A 2: 173,935,795 (GRCm39) R242H probably benign Het
Tg T C 15: 66,567,984 (GRCm39) F1296S probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmf1 G A 6: 97,153,542 (GRCm39) T177M possibly damaging Het
Tuba4a T C 1: 75,194,038 (GRCm39) Q14R probably damaging Het
Vmn2r114 T C 17: 23,529,176 (GRCm39) M309V probably benign Het
Vps13c C T 9: 67,817,504 (GRCm39) P1059S probably benign Het
Yars1 T A 4: 129,103,544 (GRCm39) S298T possibly 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
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
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'- GCAGAAACAGTACATACAGATTTTCCC -3'
(R):5'- CGACCATGAGACTTGTTTCTAGG -3'

Sequencing Primer
(F):5'- AGATTTTCCCATCTGAACGTTTAG -3'
(R):5'- CCATGAGACTTGTTTCTAGGAGGTTC -3'
Posted On 2018-10-18