Incidental Mutation 'R7150:St18'
ID 554036
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 045252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7150 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 6557455-6931164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6873243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 326 (D326G)
Ref Sequence ENSEMBL: ENSMUSP00000042056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000139838] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]
AlphaFold Q80TY4
Predicted Effect probably damaging
Transcript: ENSMUST00000043578
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 365 392 7.8e-15 PFAM
Pfam:zf-C2HC 409 437 4.2e-17 PFAM
Pfam:MYT1 476 713 1.3e-75 PFAM
Pfam:zf-C2HC 721 749 4e-19 PFAM
Pfam:zf-C2HC 765 793 1.7e-19 PFAM
Pfam:zf-C2HC 813 841 1.1e-17 PFAM
Pfam:zf-C2HC 866 893 9.1e-15 PFAM
coiled coil region 918 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131494
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 363 393 2.6e-17 PFAM
Pfam:zf-C2HC 407 437 1e-18 PFAM
Pfam:MYT1 476 714 1.5e-116 PFAM
Pfam:zf-C2HC 719 749 1e-19 PFAM
Pfam:zf-C2HC 763 793 1.3e-20 PFAM
Pfam:zf-C2HC 811 841 8.9e-19 PFAM
Pfam:zf-C2HC 864 894 1.3e-16 PFAM
coiled coil region 918 987 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000139838
SMART Domains Protein: ENSMUSP00000118129
Gene: ENSMUSG00000033740

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140079
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 363 393 2.6e-17 PFAM
Pfam:zf-C2HC 407 437 1e-18 PFAM
Pfam:MYT1 476 714 1.5e-116 PFAM
Pfam:zf-C2HC 719 749 1e-19 PFAM
Pfam:zf-C2HC 763 793 1.3e-20 PFAM
Pfam:zf-C2HC 811 841 8.9e-19 PFAM
Pfam:zf-C2HC 864 894 1.3e-16 PFAM
coiled coil region 918 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150761
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 363 393 2.6e-17 PFAM
Pfam:zf-C2HC 407 437 1e-18 PFAM
Pfam:MYT1 476 714 1.5e-116 PFAM
Pfam:zf-C2HC 719 749 1e-19 PFAM
Pfam:zf-C2HC 763 793 1.3e-20 PFAM
Pfam:zf-C2HC 811 841 8.9e-19 PFAM
Pfam:zf-C2HC 864 894 1.3e-16 PFAM
coiled coil region 918 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151281
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 363 393 2.6e-17 PFAM
Pfam:zf-C2HC 407 437 1e-18 PFAM
Pfam:MYT1 476 714 1.5e-116 PFAM
Pfam:zf-C2HC 719 749 1e-19 PFAM
Pfam:zf-C2HC 763 793 1.3e-20 PFAM
Pfam:zf-C2HC 811 841 8.9e-19 PFAM
Pfam:zf-C2HC 864 894 1.3e-16 PFAM
coiled coil region 918 987 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163727
AA Change: D326G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: D326G

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Pfam:zf-C2HC 365 392 7.8e-15 PFAM
Pfam:zf-C2HC 409 437 4.2e-17 PFAM
Pfam:MYT1 476 713 1.3e-75 PFAM
Pfam:zf-C2HC 721 749 4e-19 PFAM
Pfam:zf-C2HC 765 793 1.7e-19 PFAM
Pfam:zf-C2HC 813 841 1.1e-17 PFAM
Pfam:zf-C2HC 866 893 9.1e-15 PFAM
coiled coil region 918 987 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T C 8: 125,589,653 (GRCm39) D20G possibly damaging Het
5430401F13Rik T C 6: 131,529,630 (GRCm39) S75P probably benign Het
Acad8 A T 9: 26,889,750 (GRCm39) F315I probably damaging Het
Adcy5 A G 16: 35,118,904 (GRCm39) Y1085C probably damaging Het
Aldh1a7 T C 19: 20,693,382 (GRCm39) K179R probably damaging Het
Arhgap10 C T 8: 77,977,583 (GRCm39) G776R probably damaging Het
Arhgap35 A C 7: 16,296,491 (GRCm39) F858C probably damaging Het
Ash1l C T 3: 88,984,381 (GRCm39) R2957W probably damaging Het
Atp6ap1l G T 13: 91,031,848 (GRCm39) A278E probably damaging Het
Btn1a1 A T 13: 23,643,521 (GRCm39) D309E probably damaging Het
Casd1 C T 6: 4,624,211 (GRCm39) R335C probably benign Het
Ceacam3 A G 7: 16,885,487 (GRCm39) Q30R Het
Cfap20 C T 8: 96,148,795 (GRCm39) C119Y probably damaging Het
Cntrl A T 2: 35,055,457 (GRCm39) probably null Het
Crot A G 5: 9,037,878 (GRCm39) V146A probably damaging Het
Cx3cl1 A G 8: 95,506,591 (GRCm39) S199G probably damaging Het
Ddhd1 A T 14: 45,895,263 (GRCm39) L69Q probably damaging Het
Dnah12 T C 14: 26,583,689 (GRCm39) F3195L probably damaging Het
Dpy19l3 A T 7: 35,408,055 (GRCm39) D450E probably benign Het
Ercc3 A T 18: 32,390,325 (GRCm39) N538I probably damaging Het
Fzd1 A T 5: 4,806,145 (GRCm39) V479E probably benign Het
Gart T C 16: 91,425,351 (GRCm39) Y638C possibly damaging Het
Gm2381 C A 7: 42,469,888 (GRCm39) V79L probably benign Het
Gucy1b1 T C 3: 81,950,469 (GRCm39) Y312C probably damaging Het
Hecw1 T A 13: 14,609,045 (GRCm39) M1L probably benign Het
Ip6k2 A G 9: 108,673,930 (GRCm39) I99V unknown Het
Itgb5 C T 16: 33,761,013 (GRCm39) T616I probably benign Het
Kmt2c A C 5: 25,505,360 (GRCm39) V3316G possibly damaging Het
Lama3 C T 18: 12,601,346 (GRCm39) R1008C probably damaging Het
Lin54 T C 5: 100,633,159 (GRCm39) D175G possibly damaging Het
Lrp2 A G 2: 69,318,395 (GRCm39) S2019P probably damaging Het
Lrrc9 A G 12: 72,513,726 (GRCm39) E528G probably benign Het
Lyz3 T C 10: 117,073,647 (GRCm39) N62S probably benign Het
Mto1 A G 9: 78,364,565 (GRCm39) H299R probably damaging Het
Myo19 G A 11: 84,796,439 (GRCm39) G684R probably benign Het
Or14c45 A C 7: 86,176,322 (GRCm39) D119A probably damaging Het
Or7g32 A T 9: 19,408,145 (GRCm39) M34L probably benign Het
Pcdh18 C A 3: 49,709,143 (GRCm39) C724F probably benign Het
Pcdha3 A T 18: 37,080,165 (GRCm39) K302N probably benign Het
Pcdhgb2 T C 18: 37,825,300 (GRCm39) F764L possibly damaging Het
Pik3cb C A 9: 98,975,143 (GRCm39) G246W probably damaging Het
Polr2m A T 9: 71,390,626 (GRCm39) I192N probably damaging Het
Polr2m G T 9: 71,390,815 (GRCm39) T129K probably benign Het
Pramel48 A G 5: 95,630,680 (GRCm39) I186V possibly damaging Het
Ptpn4 C T 1: 119,619,475 (GRCm39) probably null Het
Scgb1b19 A T 7: 32,986,940 (GRCm39) K30N possibly damaging Het
Shpk A G 11: 73,104,315 (GRCm39) T155A probably damaging Het
Slit3 T C 11: 35,461,546 (GRCm39) Y261H probably damaging Het
Sox13 A G 1: 133,313,243 (GRCm39) F438L possibly damaging Het
Sphk1 A T 11: 116,425,907 (GRCm39) E61D probably benign Het
Syde1 G A 10: 78,422,032 (GRCm39) Q566* probably null Het
Tacc2 A G 7: 130,330,807 (GRCm39) T254A probably benign Het
Tbc1d1 A G 5: 64,330,827 (GRCm39) E2G probably damaging Het
Trim5 A T 7: 103,926,017 (GRCm39) N181K probably damaging Het
Trpc7 A T 13: 56,931,509 (GRCm39) I730K probably benign Het
Uqcrc1 T A 9: 108,776,926 (GRCm39) M377K probably benign Het
Vmn2r4 T C 3: 64,305,898 (GRCm39) N508S probably benign Het
Vmp1 A T 11: 86,477,402 (GRCm39) S333T probably benign Het
Vps50 T A 6: 3,578,854 (GRCm39) M639K possibly damaging Het
Zfp874b A T 13: 67,622,622 (GRCm39) C225* probably null Het
Other mutations in St18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:St18 APN 1 6,872,796 (GRCm39) missense probably benign 0.07
IGL00840:St18 APN 1 6,903,818 (GRCm39) missense probably damaging 1.00
IGL01016:St18 APN 1 6,914,547 (GRCm39) missense probably damaging 0.98
IGL01116:St18 APN 1 6,872,856 (GRCm39) missense probably damaging 0.96
IGL01719:St18 APN 1 6,916,020 (GRCm39) splice site probably benign
IGL01885:St18 APN 1 6,914,596 (GRCm39) critical splice donor site probably null
IGL02486:St18 APN 1 6,890,307 (GRCm39) missense probably damaging 1.00
IGL02611:St18 APN 1 6,839,114 (GRCm39) splice site probably benign
IGL02742:St18 APN 1 6,872,540 (GRCm39) splice site probably benign
IGL02953:St18 APN 1 6,914,337 (GRCm39) splice site probably benign
IGL02999:St18 APN 1 6,887,829 (GRCm39) missense probably benign 0.01
IGL03092:St18 APN 1 6,839,118 (GRCm39) splice site probably benign
Smallish UTSW 1 6,925,697 (GRCm39) critical splice donor site probably null
IGL03055:St18 UTSW 1 6,872,959 (GRCm39) missense probably damaging 0.99
R0089:St18 UTSW 1 6,919,172 (GRCm39) missense probably benign 0.02
R0257:St18 UTSW 1 6,890,186 (GRCm39) missense probably benign 0.04
R0383:St18 UTSW 1 6,873,248 (GRCm39) missense probably damaging 1.00
R0588:St18 UTSW 1 6,887,962 (GRCm39) missense probably damaging 0.99
R0989:St18 UTSW 1 6,898,105 (GRCm39) missense probably benign 0.04
R1068:St18 UTSW 1 6,865,786 (GRCm39) missense probably benign 0.01
R1311:St18 UTSW 1 6,915,868 (GRCm39) missense probably damaging 1.00
R1530:St18 UTSW 1 6,915,793 (GRCm39) critical splice acceptor site probably null
R1723:St18 UTSW 1 6,880,909 (GRCm39) splice site probably benign
R1926:St18 UTSW 1 6,872,913 (GRCm39) missense probably benign 0.00
R1927:St18 UTSW 1 6,872,936 (GRCm39) missense probably benign 0.00
R2035:St18 UTSW 1 6,872,552 (GRCm39) missense probably benign 0.00
R2091:St18 UTSW 1 6,898,195 (GRCm39) missense probably benign 0.08
R2139:St18 UTSW 1 6,880,839 (GRCm39) missense possibly damaging 0.85
R2261:St18 UTSW 1 6,915,796 (GRCm39) missense probably damaging 0.96
R2300:St18 UTSW 1 6,925,626 (GRCm39) missense probably damaging 1.00
R2322:St18 UTSW 1 6,914,348 (GRCm39) nonsense probably null
R2846:St18 UTSW 1 6,915,811 (GRCm39) missense probably damaging 0.96
R3738:St18 UTSW 1 6,925,697 (GRCm39) critical splice donor site probably null
R3739:St18 UTSW 1 6,925,697 (GRCm39) critical splice donor site probably null
R3772:St18 UTSW 1 6,914,553 (GRCm39) missense probably damaging 1.00
R3805:St18 UTSW 1 6,872,577 (GRCm39) missense probably damaging 1.00
R3953:St18 UTSW 1 6,873,117 (GRCm39) missense probably damaging 0.99
R4034:St18 UTSW 1 6,925,697 (GRCm39) critical splice donor site probably null
R4036:St18 UTSW 1 6,898,010 (GRCm39) missense probably damaging 1.00
R4407:St18 UTSW 1 6,898,061 (GRCm39) missense probably benign 0.29
R4527:St18 UTSW 1 6,925,647 (GRCm39) missense probably damaging 1.00
R4740:St18 UTSW 1 6,887,828 (GRCm39) missense probably benign
R4838:St18 UTSW 1 6,873,129 (GRCm39) missense probably benign 0.01
R5182:St18 UTSW 1 6,887,877 (GRCm39) missense probably benign 0.03
R5186:St18 UTSW 1 6,872,541 (GRCm39) splice site probably null
R5354:St18 UTSW 1 6,914,395 (GRCm39) missense probably damaging 1.00
R5423:St18 UTSW 1 6,872,840 (GRCm39) missense possibly damaging 0.91
R5724:St18 UTSW 1 6,841,174 (GRCm39) missense probably benign 0.13
R6182:St18 UTSW 1 6,914,342 (GRCm39) splice site probably null
R6491:St18 UTSW 1 6,898,209 (GRCm39) nonsense probably null
R6503:St18 UTSW 1 6,865,621 (GRCm39) missense probably damaging 1.00
R7037:St18 UTSW 1 6,873,260 (GRCm39) missense possibly damaging 0.65
R7098:St18 UTSW 1 6,898,066 (GRCm39) missense probably damaging 1.00
R7132:St18 UTSW 1 6,929,351 (GRCm39) missense
R7144:St18 UTSW 1 6,903,818 (GRCm39) missense probably damaging 1.00
R7334:St18 UTSW 1 6,872,783 (GRCm39) missense probably benign 0.00
R7502:St18 UTSW 1 6,898,194 (GRCm39) missense probably benign 0.09
R7729:St18 UTSW 1 6,872,761 (GRCm39) missense probably benign 0.00
R7848:St18 UTSW 1 6,927,669 (GRCm39) critical splice donor site probably null
R8088:St18 UTSW 1 6,898,229 (GRCm39) missense probably benign 0.00
R8299:St18 UTSW 1 6,873,216 (GRCm39) missense probably benign 0.01
R8338:St18 UTSW 1 6,879,516 (GRCm39) missense probably damaging 1.00
R8690:St18 UTSW 1 6,872,788 (GRCm39) missense probably benign
R8753:St18 UTSW 1 6,916,015 (GRCm39) missense probably damaging 1.00
R8808:St18 UTSW 1 6,880,826 (GRCm39) missense probably damaging 1.00
R8880:St18 UTSW 1 6,865,619 (GRCm39) nonsense probably null
R9055:St18 UTSW 1 6,873,206 (GRCm39) nonsense probably null
R9292:St18 UTSW 1 6,898,106 (GRCm39) missense probably benign 0.32
R9322:St18 UTSW 1 6,865,747 (GRCm39) missense probably benign 0.00
R9530:St18 UTSW 1 6,872,997 (GRCm39) missense probably benign 0.00
R9603:St18 UTSW 1 6,915,811 (GRCm39) missense probably damaging 1.00
R9611:St18 UTSW 1 6,873,147 (GRCm39) missense probably benign 0.00
R9639:St18 UTSW 1 6,929,246 (GRCm39) missense
R9644:St18 UTSW 1 6,929,276 (GRCm39) missense
R9740:St18 UTSW 1 6,873,287 (GRCm39) nonsense probably null
R9750:St18 UTSW 1 6,873,216 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGTGAAAGCCCAGCCTTCC -3'
(R):5'- AAGGAAGGAATCGTCTGTCTCATG -3'

Sequencing Primer
(F):5'- CTTCCTTCCCAGAGGTTGAAGAG -3'
(R):5'- AGTTGTCAAAACGCTAATCTAGAAAG -3'
Posted On 2019-05-15