Incidental Mutation 'R6376:Styxl1'
ID 514968
Institutional Source Beutler Lab
Gene Symbol Styxl1
Ensembl Gene ENSMUSG00000019178
Gene Name serine/threonine/tyrosine interacting-like 1
Synonyms 1700011C14Rik, Dusp24
MMRRC Submission 044526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6376 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 135776074-135807239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135776664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 164 (L164H)
Ref Sequence ENSEMBL: ENSMUSP00000137191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043378] [ENSMUST00000053906] [ENSMUST00000111161] [ENSMUST00000111162] [ENSMUST00000111163] [ENSMUST00000111164] [ENSMUST00000142343] [ENSMUST00000177559] [ENSMUST00000178515] [ENSMUST00000153399]
AlphaFold Q9DAR2
Predicted Effect probably benign
Transcript: ENSMUST00000043378
SMART Domains Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886

DomainStartEndE-ValueType
Pfam:TMPIT 13 336 4.2e-159 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053906
AA Change: L308H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000051216
Gene: ENSMUSG00000019178
AA Change: L308H

DomainStartEndE-ValueType
RHOD 17 148 1.31e-3 SMART
DSPc 167 307 1.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111161
AA Change: L164H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106791
Gene: ENSMUSG00000019178
AA Change: L164H

DomainStartEndE-ValueType
DSPc 23 163 1.01e-17 SMART
Predicted Effect unknown
Transcript: ENSMUST00000111162
AA Change: L204H
SMART Domains Protein: ENSMUSP00000106792
Gene: ENSMUSG00000019178
AA Change: L204H

DomainStartEndE-ValueType
Pfam:DSPc 64 203 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111163
AA Change: L308H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106793
Gene: ENSMUSG00000019178
AA Change: L308H

DomainStartEndE-ValueType
RHOD 17 148 1.31e-3 SMART
DSPc 167 307 1.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111164
AA Change: L308H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106794
Gene: ENSMUSG00000019178
AA Change: L308H

DomainStartEndE-ValueType
RHOD 17 148 1.31e-3 SMART
DSPc 167 307 1.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142343
SMART Domains Protein: ENSMUSP00000136983
Gene: ENSMUSG00000019178

DomainStartEndE-ValueType
Blast:RHOD 17 62 8e-19 BLAST
SCOP:d1gmxa_ 23 67 6e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177559
AA Change: L308H

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000135982
Gene: ENSMUSG00000019178
AA Change: L308H

DomainStartEndE-ValueType
RHOD 17 148 1.31e-3 SMART
DSPc 167 307 1.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178515
AA Change: L164H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137191
Gene: ENSMUSG00000019178
AA Change: L164H

DomainStartEndE-ValueType
DSPc 23 163 1.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153399
SMART Domains Protein: ENSMUSP00000120834
Gene: ENSMUSG00000039886

DomainStartEndE-ValueType
Pfam:TMPIT 12 93 9e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (81/81)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,339,456 (GRCm39) E106D probably damaging Het
A830018L16Rik A T 1: 11,868,718 (GRCm39) N333Y probably damaging Het
Abca4 T A 3: 121,917,309 (GRCm39) M1007K possibly damaging Het
Accsl T A 2: 93,687,343 (GRCm39) I495F probably damaging Het
Acsl3 T C 1: 78,674,182 (GRCm39) S373P possibly damaging Het
Adam7 A G 14: 68,742,546 (GRCm39) I689T possibly damaging Het
Akap11 G A 14: 78,752,336 (GRCm39) T179I probably damaging Het
Ankmy1 T C 1: 92,816,187 (GRCm39) K309R possibly damaging Het
Apaf1 A T 10: 90,859,673 (GRCm39) I824N probably damaging Het
Apc2 T A 10: 80,148,488 (GRCm39) C1152S probably damaging Het
Arhgap17 C A 7: 122,899,727 (GRCm39) W409L probably damaging Het
Arhgef15 T C 11: 68,845,796 (GRCm39) I19V unknown Het
Arnt C A 3: 95,397,936 (GRCm39) P573H probably damaging Het
Arvcf G A 16: 18,223,882 (GRCm39) G932R probably damaging Het
Atg4a-ps C T 3: 103,553,044 (GRCm39) W99* probably null Het
Atp13a5 T A 16: 29,056,004 (GRCm39) D1052V probably benign Het
Atp2b4 T C 1: 133,642,797 (GRCm39) T1103A probably damaging Het
B4galnt4 C A 7: 140,647,335 (GRCm39) Q362K possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cep170b A T 12: 112,698,502 (GRCm39) I87F probably damaging Het
Coq3 T G 4: 21,900,486 (GRCm39) C238G probably benign Het
Cpa5 A T 6: 30,614,044 (GRCm39) Q62L probably benign Het
Ctsg A T 14: 56,339,110 (GRCm39) C49* probably null Het
Cul9 T C 17: 46,819,489 (GRCm39) T2000A probably damaging Het
Dedd C T 1: 171,167,790 (GRCm39) P155S probably benign Het
Dnah1 A G 14: 30,997,565 (GRCm39) S2598P probably damaging Het
Dnah14 C T 1: 181,433,459 (GRCm39) P379S possibly damaging Het
Dync2h1 A T 9: 7,165,703 (GRCm39) S519R probably benign Het
Eea1 A G 10: 95,874,660 (GRCm39) S1192G probably benign Het
Eif5b T C 1: 38,084,760 (GRCm39) I869T probably damaging Het
Elavl4 C A 4: 110,112,651 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Exoc3l2 G A 7: 19,203,635 (GRCm39) A76T possibly damaging Het
Fam89b T C 19: 5,778,757 (GRCm39) Y144C probably damaging Het
Greb1 T C 12: 16,749,580 (GRCm39) E1082G probably damaging Het
Gtf3a A T 5: 146,890,798 (GRCm39) probably null Het
Hoxc12 C A 15: 102,845,524 (GRCm39) F79L possibly damaging Het
Hspb8 G T 5: 116,547,491 (GRCm39) L164I probably damaging Het
Ina C T 19: 47,003,564 (GRCm39) A124V probably benign Het
Inhbb T A 1: 119,345,411 (GRCm39) I293F probably damaging Het
Itpr3 A G 17: 27,314,449 (GRCm39) Y633C possibly damaging Het
Jag2 C T 12: 112,872,949 (GRCm39) V1102I probably benign Het
Kalrn A T 16: 33,796,361 (GRCm39) F1138Y probably benign Het
Large2 T A 2: 92,200,853 (GRCm39) probably benign Het
Lats2 A G 14: 57,959,966 (GRCm39) S177P probably benign Het
Lims2 G A 18: 32,087,515 (GRCm39) R124H possibly damaging Het
Lrp2 T A 2: 69,313,787 (GRCm39) T2315S probably benign Het
Lrrc4c A C 2: 97,459,391 (GRCm39) T6P probably benign Het
Lrrk2 T C 15: 91,626,469 (GRCm39) L1171S possibly damaging Het
Man2b2 A T 5: 36,978,378 (GRCm39) M302K probably damaging Het
Mocos G A 18: 24,834,542 (GRCm39) G860R possibly damaging Het
Mylk3 T A 8: 86,085,571 (GRCm39) D258V possibly damaging Het
Nkx1-2 C T 7: 132,201,240 (GRCm39) D6N probably damaging Het
Nrp2 A G 1: 62,758,176 (GRCm39) N54S possibly damaging Het
Nt5el T C 13: 105,256,473 (GRCm39) I514T possibly damaging Het
Or2d2 A G 7: 106,727,848 (GRCm39) F251L probably benign Het
Pacsin1 A T 17: 27,926,879 (GRCm39) T195S probably benign Het
Pank4 T C 4: 155,056,693 (GRCm39) probably null Het
Pdgfra A T 5: 75,327,180 (GRCm39) M126L probably benign Het
Podxl T A 6: 31,505,432 (GRCm39) T204S probably benign Het
Pole G A 5: 110,484,240 (GRCm39) D2175N probably damaging Het
Pramel16 C T 4: 143,677,267 (GRCm39) G104E probably benign Het
Prkdc A G 16: 15,587,749 (GRCm39) K2545E probably benign Het
Prodh T C 16: 17,897,849 (GRCm39) I183V probably benign Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rapgef5 G A 12: 117,684,988 (GRCm39) V246M probably damaging Het
Rubcnl A G 14: 75,269,834 (GRCm39) N164S probably benign Het
Samd4 A T 14: 47,290,419 (GRCm39) L175F probably damaging Het
Scart1 G A 7: 139,808,642 (GRCm39) G851D probably damaging Het
Scimp C A 11: 70,688,893 (GRCm39) W41L possibly damaging Het
Scn3a T A 2: 65,291,843 (GRCm39) K1634N possibly damaging Het
Spta1 A G 1: 174,030,888 (GRCm39) R957G probably benign Het
Sptlc3 T A 2: 139,478,692 (GRCm39) N550K probably benign Het
Srebf1 T C 11: 60,094,361 (GRCm39) N609D probably null Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Tnfsf15 T C 4: 63,663,267 (GRCm39) M19V probably damaging Het
Trappc8 G C 18: 20,970,132 (GRCm39) R953G probably benign Het
Trav13-1 A G 14: 53,782,800 (GRCm39) N50S probably benign Het
Trim12a T C 7: 103,955,241 (GRCm39) K161E probably benign Het
Vipr1 C A 9: 121,493,640 (GRCm39) N230K probably damaging Het
Xirp1 A T 9: 119,847,557 (GRCm39) V3E probably damaging Het
Zfp768 A G 7: 126,943,892 (GRCm39) F82L probably benign Het
Other mutations in Styxl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Styxl1 APN 5 135,794,604 (GRCm39) missense probably damaging 1.00
IGL02735:Styxl1 APN 5 135,787,996 (GRCm39) missense probably damaging 1.00
IGL03284:Styxl1 APN 5 135,785,949 (GRCm39) missense possibly damaging 0.65
R1263:Styxl1 UTSW 5 135,782,737 (GRCm39) missense probably damaging 1.00
R1533:Styxl1 UTSW 5 135,799,175 (GRCm39) missense probably damaging 1.00
R1987:Styxl1 UTSW 5 135,785,976 (GRCm39) missense probably damaging 1.00
R2399:Styxl1 UTSW 5 135,776,635 (GRCm39) missense possibly damaging 0.80
R3040:Styxl1 UTSW 5 135,785,887 (GRCm39) missense probably damaging 1.00
R3411:Styxl1 UTSW 5 135,794,618 (GRCm39) missense probably damaging 1.00
R4085:Styxl1 UTSW 5 135,788,019 (GRCm39) missense unknown
R4772:Styxl1 UTSW 5 135,797,755 (GRCm39) nonsense probably null
R5667:Styxl1 UTSW 5 135,785,977 (GRCm39) splice site probably null
R6601:Styxl1 UTSW 5 135,784,350 (GRCm39) missense probably benign 0.30
R7588:Styxl1 UTSW 5 135,799,130 (GRCm39) missense probably damaging 0.98
R7735:Styxl1 UTSW 5 135,788,023 (GRCm39) missense probably damaging 1.00
R8922:Styxl1 UTSW 5 135,776,634 (GRCm39) missense probably benign 0.05
R9188:Styxl1 UTSW 5 135,794,672 (GRCm39) critical splice acceptor site probably null
R9337:Styxl1 UTSW 5 135,794,592 (GRCm39) missense probably benign 0.01
R9430:Styxl1 UTSW 5 135,784,259 (GRCm39) critical splice donor site probably null
R9536:Styxl1 UTSW 5 135,776,634 (GRCm39) missense probably benign 0.05
R9689:Styxl1 UTSW 5 135,799,190 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CCTTAAGATGCAGATATGAACCTCCAG -3'
(R):5'- GCGTCTGCATCTAGTCTTAAGCC -3'

Sequencing Primer
(F):5'- AGGCAGCAAAGGTCTTCTC -3'
(R):5'- GCATCTAGTCTTAAGCCATCATGTG -3'
Posted On 2018-05-04