Incidental Mutation 'R8088:St18'
ID 629760
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 067521-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8088 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 6557455-6931164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6898229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 677 (T677K)
Ref Sequence ENSEMBL: ENSMUSP00000042056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]
AlphaFold Q80TY4
Predicted Effect probably benign
Transcript: ENSMUST00000043578
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: T677K

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 benign
Transcript: ENSMUST00000131494
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: T677K

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 benign
Transcript: ENSMUST00000140079
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: T677K

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 benign
Transcript: ENSMUST00000150761
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: T677K

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 benign
Transcript: ENSMUST00000151281
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: T677K

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 benign
Transcript: ENSMUST00000163727
AA Change: T677K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: T677K

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c1 A T 9: 105,329,768 (GRCm39) probably null Het
Ccdc134 T A 15: 82,015,990 (GRCm39) probably benign Het
Ccdc162 G T 10: 41,499,410 (GRCm39) H1066Q possibly damaging Het
Ccna1 A G 3: 54,958,492 (GRCm39) S64P probably benign Het
Cplane1 A G 15: 8,215,802 (GRCm39) M453V probably benign Het
Defb12 T C 8: 19,162,837 (GRCm39) probably null Het
Dhx9 C A 1: 153,338,443 (GRCm39) V738L probably benign Het
Dnah10 A G 5: 124,831,330 (GRCm39) N843S probably benign Het
Dspp A G 5: 104,325,122 (GRCm39) D495G unknown Het
Dus2 A G 8: 106,757,073 (GRCm39) M88V probably benign Het
Dusp13b A G 14: 21,791,305 (GRCm39) V49A probably benign Het
Efcab3 A T 11: 104,889,072 (GRCm39) I4163L probably benign Het
Ehbp1 G A 11: 22,039,572 (GRCm39) H843Y probably null Het
Entpd3 A C 9: 120,383,239 (GRCm39) R91S probably benign Het
Fam83c C A 2: 155,673,559 (GRCm39) V210F probably damaging Het
Flot1 G A 17: 36,140,870 (GRCm39) A287T probably damaging Het
Gm19410 A G 8: 36,273,995 (GRCm39) K1412E probably benign Het
Gsn G A 2: 35,182,659 (GRCm39) V241M possibly damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Heatr5a T C 12: 51,994,779 (GRCm39) D451G possibly damaging Het
Hmcn2 G A 2: 31,316,915 (GRCm39) W3831* probably null Het
Il3 A G 11: 54,156,375 (GRCm39) V119A probably benign Het
Jam3 T C 9: 27,010,156 (GRCm39) K276R probably benign Het
Kcnt1 G A 2: 25,784,326 (GRCm39) G277D possibly damaging Het
Kif28 T A 1: 179,527,919 (GRCm39) D744V probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Loxhd1 T C 18: 77,429,709 (GRCm39) I535T possibly damaging Het
Lzts1 A C 8: 69,588,474 (GRCm39) L494R probably benign Het
Mettl4 A G 17: 95,042,795 (GRCm39) V347A probably damaging Het
Mff A G 1: 82,729,370 (GRCm39) E270G probably damaging Het
Mroh2b A T 15: 4,929,985 (GRCm39) I24F possibly damaging Het
Muc16 A T 9: 18,430,596 (GRCm39) Y8102* probably null Het
Myh14 A T 7: 44,314,920 (GRCm39) M1K probably null Het
Myo18b T A 5: 113,027,376 (GRCm39) probably benign Het
Neurl1a C A 19: 47,245,873 (GRCm39) P502T probably damaging Het
Nrp1 G A 8: 129,194,997 (GRCm39) W484* probably null Het
Or2y3 T A 17: 38,393,452 (GRCm39) H139L possibly damaging Het
Or4f47 T A 2: 111,972,602 (GRCm39) I104N probably benign Het
Pcdhac1 T C 18: 37,224,807 (GRCm39) V540A possibly damaging Het
Pcdhga9 A G 18: 37,870,007 (GRCm39) probably benign Het
Pm20d1 A C 1: 131,729,501 (GRCm39) N176T probably benign Het
Pnldc1 T C 17: 13,116,189 (GRCm39) D271G probably damaging Het
Pold3 A G 7: 99,761,508 (GRCm39) V63A probably damaging Het
Rbm18 A C 2: 36,017,196 (GRCm39) S61A probably benign Het
Rdh14 T C 12: 10,444,551 (GRCm39) L134P probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rtel1 A G 2: 180,964,138 (GRCm39) T46A probably damaging Het
Rtn3 T C 19: 7,412,363 (GRCm39) I823V probably damaging Het
S1pr1 A G 3: 115,505,683 (GRCm39) S304P probably damaging Het
Scfd2 A G 5: 74,692,024 (GRCm39) V86A probably benign Het
Scgb1a1 C T 19: 9,062,599 (GRCm39) V66M probably damaging Het
Sec31a A T 5: 100,526,721 (GRCm39) M46K Het
Sgsm1 A G 5: 113,403,134 (GRCm39) M971T probably damaging Het
Slc5a11 T C 7: 122,864,951 (GRCm39) I419T probably benign Het
Slco6d1 A T 1: 98,394,431 (GRCm39) T372S possibly damaging Het
Slx9 T C 10: 77,350,229 (GRCm39) N53S probably benign Het
Spata31 T A 13: 65,068,679 (GRCm39) Y276N probably benign Het
Sprr2k C T 3: 92,340,796 (GRCm39) R49W unknown Het
Sspo G A 6: 48,434,547 (GRCm39) C1013Y probably damaging Het
Ssr2 A G 3: 88,487,190 (GRCm39) R2G possibly damaging Het
Thap11 A T 8: 106,582,527 (GRCm39) I179F probably damaging Het
Trf C A 9: 103,089,130 (GRCm39) G586C probably damaging Het
Umodl1 A G 17: 31,192,770 (GRCm39) N299S probably benign Het
Xrcc5 C A 1: 72,351,595 (GRCm39) A55E probably damaging 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
R7150:St18 UTSW 1 6,873,243 (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
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'- ACGGCACATTGGACTTAAGC -3'
(R):5'- TGAGGACAACTTCTACCATCATG -3'

Sequencing Primer
(F):5'- TCGAATCCACGACAAGT -3'
(R):5'- ATACAGTGGCTCATGGTCATC -3'
Posted On 2020-06-30