Incidental Mutation 'RF002:Snx25'
ID 602564
Institutional Source Beutler Lab
Gene Symbol Snx25
Ensembl Gene ENSMUSG00000038291
Gene Name sorting nexin 25
Synonyms LOC382008, SBBI31
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 46486298-46605196 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 46569218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106007 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041582] [ENSMUST00000110377] [ENSMUST00000110378] [ENSMUST00000170416]
AlphaFold Q3ZT31
Predicted Effect probably null
Transcript: ENSMUST00000041582
SMART Domains Protein: ENSMUSP00000035785
Gene: ENSMUSG00000038291

DomainStartEndE-ValueType
Pfam:PXA 1 163 9e-32 PFAM
RGS 287 401 6.62e-10 SMART
low complexity region 421 438 N/A INTRINSIC
PX 512 624 1.38e-10 SMART
low complexity region 658 663 N/A INTRINSIC
low complexity region 664 676 N/A INTRINSIC
Pfam:Nexin_C 701 808 1.7e-35 PFAM
low complexity region 812 828 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110377
SMART Domains Protein: ENSMUSP00000106006
Gene: ENSMUSG00000038291

DomainStartEndE-ValueType
Pfam:PXA 1 138 5.8e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110378
SMART Domains Protein: ENSMUSP00000106007
Gene: ENSMUSG00000038291

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
Pfam:PXA 145 306 8.7e-30 PFAM
RGS 433 547 6.62e-10 SMART
low complexity region 567 584 N/A INTRINSIC
PX 658 770 1.38e-10 SMART
low complexity region 804 809 N/A INTRINSIC
low complexity region 810 822 N/A INTRINSIC
Pfam:Nexin_C 847 953 1e-28 PFAM
low complexity region 958 974 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170416
SMART Domains Protein: ENSMUSP00000127640
Gene: ENSMUSG00000038291

DomainStartEndE-ValueType
Pfam:PXA 1 163 9e-32 PFAM
RGS 287 401 6.62e-10 SMART
low complexity region 421 438 N/A INTRINSIC
PX 512 624 1.38e-10 SMART
low complexity region 658 663 N/A INTRINSIC
low complexity region 664 676 N/A INTRINSIC
Pfam:Nexin_C 701 808 1.7e-35 PFAM
low complexity region 812 828 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 CGG CGGTGG 19: 5,475,262 (GRCm39) probably benign Het
AI837181 GGC GGCTGC 19: 5,475,263 (GRCm39) probably benign Het
Angptl1 A T 1: 156,684,794 (GRCm39) Q321L possibly damaging Het
AY358078 T TAGGATAATGC 14: 52,043,050 (GRCm39) probably null Het
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT 7: 80,162,653 (GRCm39) probably benign Het
Blm CTC CTCATCCTCCTCATC 7: 80,162,675 (GRCm39) probably benign Het
Car13 T C 3: 14,719,974 (GRCm39) Y129H probably damaging Het
Cd109 TTATTTATTTAT TTATTTATTTATGTATTTATTTAT 9: 78,619,805 (GRCm39) probably benign Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,619,810 (GRCm39) probably benign Het
Cdh26 T C 2: 178,108,424 (GRCm39) C341R probably damaging Het
Chga GCA GCACCA 12: 102,527,680 (GRCm39) probably benign Het
Col11a1 A T 3: 114,010,650 (GRCm39) I1689L unknown Het
Dnah6 T G 6: 73,078,872 (GRCm39) S2364R probably benign Het
E4f1 CCG CCGACG 17: 24,674,160 (GRCm39) probably benign Het
Fah A C 7: 84,238,836 (GRCm39) N336K probably damaging Het
Fbxo11 A T 17: 88,303,481 (GRCm39) I664K Het
Fcgbp A G 7: 27,789,180 (GRCm39) D582G probably benign Het
Gabre C CCGGCTA X: 71,313,663 (GRCm39) probably null Het
Garin5a CCTGGGTCTGAGGGAGGA CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA 7: 44,149,944 (GRCm39) probably null Het
Gm1110 A G 9: 26,831,936 (GRCm39) Y72H probably damaging Het
Inpp5e C T 2: 26,298,389 (GRCm39) A71T possibly damaging Het
Iqcm C T 8: 76,304,527 (GRCm39) T96I probably benign Het
Lce1m TGCCACCGCTGC TGCCACCGCTGCCGCCACCGCTGC 3: 92,925,590 (GRCm39) probably benign Het
Lce1m AC ACCGCCGCTGCCCC 3: 92,925,606 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Lyst A G 13: 13,808,948 (GRCm39) D206G probably benign Het
Map4k5 A T 12: 69,903,630 (GRCm39) D58E probably damaging Het
Mapkapk2 A G 1: 130,984,250 (GRCm39) S251P probably damaging Het
Mcph1 CCTG CCTGCTG 8: 18,702,545 (GRCm39) probably benign Het
Men1 T C 19: 6,390,146 (GRCm39) S600P probably damaging Het
Mllt1 C T 17: 57,203,300 (GRCm39) V394M probably benign Het
Mllt1 C A 17: 57,203,301 (GRCm39) M393I possibly damaging Het
Nacc1 T C 8: 85,402,848 (GRCm39) E315G possibly damaging Het
Nefh GGGGACTTGGCCTC GGGGACTTGGCCTCACCTAGGGACTTGGCCTC 11: 4,891,047 (GRCm39) probably benign Het
Nefh GACTTGGCCTC GACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,050 (GRCm39) probably benign Het
Nid2 TAACACCGCCA TA 14: 19,801,434 (GRCm39) probably benign Het
Or5b122 T A 19: 13,563,415 (GRCm39) I206N probably damaging Het
Parp2 A G 14: 51,054,843 (GRCm39) E262G probably damaging Het
Pdik1l TTT TTTGTTTTTGTGTT 4: 134,006,686 (GRCm39) probably null Het
Pop1 G A 15: 34,502,583 (GRCm39) G90D probably damaging Het
Ppp3cc T C 14: 70,504,788 (GRCm39) T73A possibly damaging Het
Prdm15 C T 16: 97,600,829 (GRCm39) D810N probably damaging Het
Prpf4b T A 13: 35,068,219 (GRCm39) S349R unknown Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,756,780 (GRCm39) probably benign Het
Rassf6 GTAGAGCAATGGGGATTC GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC 5: 90,756,784 (GRCm39) probably null Het
Sdk2 T C 11: 113,776,078 (GRCm39) E208G probably benign Het
Smurf2 G T 11: 106,743,413 (GRCm39) P211Q probably benign Het
Spata6 T A 4: 111,685,502 (GRCm39) M469K probably benign Het
Spta1 G T 1: 174,058,926 (GRCm39) A1954S possibly damaging Het
Sry CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG CTGGTCATGGAACTGCTG Y: 2,662,564 (GRCm39) probably benign Het
Stard8 GAG GAGTAG X: 98,110,121 (GRCm39) probably null Het
Tfeb AGC AGCGGC 17: 48,097,027 (GRCm39) probably benign Het
Tlcd1 T A 11: 78,071,020 (GRCm39) L203Q probably benign Het
Tlr11 T C 14: 50,598,682 (GRCm39) F223L possibly damaging Het
Usp48 T A 4: 137,333,106 (GRCm39) V100D probably damaging Het
Vinac1 A G 2: 128,880,714 (GRCm39) F404S Het
Vmn2r56 G A 7: 12,428,757 (GRCm39) T503I probably benign Het
Vps18 T C 2: 119,127,871 (GRCm39) L898P probably damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (GRCm39) probably benign Het
Zfp706 T A 15: 37,003,949 (GRCm39) Y39F probably benign Het
Zhx3 T A 2: 160,623,726 (GRCm39) N147I probably damaging Het
Other mutations in Snx25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Snx25 APN 8 46,491,513 (GRCm39) missense probably damaging 1.00
IGL01432:Snx25 APN 8 46,558,197 (GRCm39) missense probably damaging 0.96
IGL01600:Snx25 APN 8 46,569,347 (GRCm39) missense probably benign 0.00
IGL02150:Snx25 APN 8 46,569,318 (GRCm39) missense possibly damaging 0.89
IGL02386:Snx25 APN 8 46,494,386 (GRCm39) missense possibly damaging 0.93
IGL02691:Snx25 APN 8 46,558,302 (GRCm39) missense possibly damaging 0.88
IGL03338:Snx25 APN 8 46,498,247 (GRCm39) missense probably benign 0.04
IGL03377:Snx25 APN 8 46,533,338 (GRCm39) unclassified probably benign
duo UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R0047:Snx25 UTSW 8 46,494,402 (GRCm39) missense probably damaging 0.99
R0047:Snx25 UTSW 8 46,494,402 (GRCm39) missense probably damaging 0.99
R0048:Snx25 UTSW 8 46,558,146 (GRCm39) splice site probably benign
R0048:Snx25 UTSW 8 46,558,146 (GRCm39) splice site probably benign
R0056:Snx25 UTSW 8 46,491,550 (GRCm39) missense probably damaging 1.00
R0546:Snx25 UTSW 8 46,556,667 (GRCm39) missense probably benign 0.00
R0791:Snx25 UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R1165:Snx25 UTSW 8 46,488,752 (GRCm39) missense probably damaging 0.99
R1255:Snx25 UTSW 8 46,569,275 (GRCm39) missense probably benign 0.13
R1262:Snx25 UTSW 8 46,558,328 (GRCm39) missense probably damaging 0.98
R1522:Snx25 UTSW 8 46,577,119 (GRCm39) start codon destroyed probably null 0.88
R1652:Snx25 UTSW 8 46,502,510 (GRCm39) missense probably damaging 0.99
R1710:Snx25 UTSW 8 46,569,244 (GRCm39) missense possibly damaging 0.69
R1829:Snx25 UTSW 8 46,488,669 (GRCm39) missense possibly damaging 0.82
R2090:Snx25 UTSW 8 46,509,150 (GRCm39) missense probably damaging 1.00
R2158:Snx25 UTSW 8 46,494,444 (GRCm39) missense probably damaging 1.00
R2906:Snx25 UTSW 8 46,502,560 (GRCm39) splice site probably null
R4244:Snx25 UTSW 8 46,558,291 (GRCm39) missense probably damaging 0.98
R4394:Snx25 UTSW 8 46,488,715 (GRCm39) missense probably damaging 1.00
R4465:Snx25 UTSW 8 46,521,266 (GRCm39) missense possibly damaging 0.78
R4586:Snx25 UTSW 8 46,569,474 (GRCm39) intron probably benign
R4663:Snx25 UTSW 8 46,488,616 (GRCm39) missense probably damaging 1.00
R4961:Snx25 UTSW 8 46,521,229 (GRCm39) missense probably damaging 0.99
R5104:Snx25 UTSW 8 46,521,203 (GRCm39) makesense probably null
R5634:Snx25 UTSW 8 46,494,428 (GRCm39) missense possibly damaging 0.94
R6128:Snx25 UTSW 8 46,558,240 (GRCm39) missense probably benign 0.01
R6344:Snx25 UTSW 8 46,488,675 (GRCm39) nonsense probably null
R6382:Snx25 UTSW 8 46,509,028 (GRCm39) missense probably benign
R6523:Snx25 UTSW 8 46,508,892 (GRCm39) missense probably damaging 0.96
R6798:Snx25 UTSW 8 46,486,810 (GRCm39) missense probably damaging 0.98
R7143:Snx25 UTSW 8 46,488,752 (GRCm39) missense possibly damaging 0.92
R7147:Snx25 UTSW 8 46,558,233 (GRCm39) missense probably damaging 0.98
R7519:Snx25 UTSW 8 46,569,309 (GRCm39) missense probably damaging 1.00
R7723:Snx25 UTSW 8 46,491,516 (GRCm39) missense probably damaging 1.00
R9084:Snx25 UTSW 8 46,521,203 (GRCm39) makesense probably null
R9519:Snx25 UTSW 8 46,486,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCAAGCAGGCAAACCATTC -3'
(R):5'- GAACCTCAGCAGAGATGACG -3'

Sequencing Primer
(F):5'- AGCGTGAGTATGCTTAACCC -3'
(R):5'- GATGACGGACAGCTCTACCATCTG -3'
Posted On 2019-12-04