Incidental Mutation 'R4740:St18'
ID 359573
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 041965-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4740 (G1)
Quality Score 85
Status Validated
Chromosome 1
Chromosomal Location 6557455-6931164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 6887828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 466 (V466L)
Ref Sequence ENSEMBL: ENSMUSP00000131417 (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: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: V466L

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: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: V466L

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: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: V466L

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 noncoding transcript
Transcript: ENSMUST00000142304
Predicted Effect probably benign
Transcript: ENSMUST00000150761
AA Change: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: V466L

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: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: V466L

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: V466L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: V466L

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (95/95)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik C T 16: 21,513,146 (GRCm39) A4T probably benign Het
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Abcb1a T C 5: 8,752,280 (GRCm39) probably null Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Baiap2l2 T A 15: 79,143,951 (GRCm39) Y381F probably benign Het
Chd6 A T 2: 160,812,103 (GRCm39) D1363E probably benign Het
Ciao3 A T 17: 26,000,283 (GRCm39) H322L probably damaging Het
Cir1 T C 2: 73,142,867 (GRCm39) probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Clec4d T A 6: 123,245,072 (GRCm39) H117Q probably damaging Het
Cntnap2 A T 6: 45,037,251 (GRCm39) R10W possibly damaging Het
Coro6 A G 11: 77,360,025 (GRCm39) E362G possibly damaging Het
Ctr9 T A 7: 110,634,578 (GRCm39) C196S probably benign Het
Cyp2c55 A G 19: 39,007,173 (GRCm39) K190E probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dnah11 A G 12: 118,084,279 (GRCm39) F1242L probably benign Het
Dnah2 A G 11: 69,348,868 (GRCm39) W2534R probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Dpp9 A C 17: 56,505,970 (GRCm39) probably null Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Eml4 T G 17: 83,717,459 (GRCm39) D10E probably damaging Het
Enpp1 A T 10: 24,555,146 (GRCm39) C67S probably null Het
Epn1 A G 7: 5,093,012 (GRCm39) D108G probably damaging Het
Eps15 A G 4: 109,200,387 (GRCm39) Y2C probably damaging Het
Fam135b C T 15: 71,335,920 (GRCm39) V425I probably benign Het
Frem2 G A 3: 53,443,240 (GRCm39) A2508V probably benign Het
Fzd3 T A 14: 65,473,193 (GRCm39) M192L possibly damaging Het
Gls C T 1: 52,271,947 (GRCm39) A69T probably damaging Het
Gm10051 T A 5: 133,504,113 (GRCm39) noncoding transcript Het
Gm9271 A G 7: 39,013,346 (GRCm39) noncoding transcript Het
Gramd1b T C 9: 40,227,128 (GRCm39) probably null Het
Gvin-ps6 G A 7: 106,022,782 (GRCm39) noncoding transcript Het
H2-T23 A T 17: 36,343,016 (GRCm39) probably benign Het
H2-T5 T A 17: 36,478,448 (GRCm39) I195F probably damaging Het
Hmbox1 G A 14: 65,134,483 (GRCm39) T39I probably damaging Het
Hmx1 A G 5: 35,549,115 (GRCm39) E136G probably damaging Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A G 8: 111,173,071 (GRCm39) N918S probably benign Het
Igkv5-37 T A 6: 69,940,306 (GRCm39) S113C probably damaging Het
Il36rn T C 2: 24,167,503 (GRCm39) probably benign Het
Mab21l4 A C 1: 93,083,890 (GRCm39) M189R probably benign Het
Marco G T 1: 120,422,499 (GRCm39) T61K probably damaging Het
Med1 T A 11: 98,071,090 (GRCm39) R86* probably null Het
Mertk A G 2: 128,593,914 (GRCm39) Y306C probably damaging Het
Mgat4c T C 10: 102,224,265 (GRCm39) F160L probably damaging Het
Midn A T 10: 79,987,238 (GRCm39) E88V probably null Het
Muc4 G A 16: 32,596,277 (GRCm39) R3163H possibly damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nhlrc4 T C 17: 26,162,577 (GRCm39) T57A probably benign Het
Nlrp1a T C 11: 71,004,466 (GRCm39) probably null Het
Npffr2 A T 5: 89,730,879 (GRCm39) K270* probably null Het
Or10a3 T G 7: 108,480,689 (GRCm39) E41D probably benign Het
Or2b6 T A 13: 21,823,340 (GRCm39) M118L possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or8g26 T A 9: 39,095,664 (GRCm39) Y60* probably null Het
Or8k40 C T 2: 86,584,155 (GRCm39) C309Y probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pabpc4l C G 3: 46,400,570 (GRCm39) G358A possibly damaging Het
Pabpc4l C T 3: 46,400,579 (GRCm39) R355H probably benign Het
Parp1 T C 1: 180,417,033 (GRCm39) S606P probably damaging Het
Pkhd1 A G 1: 20,594,354 (GRCm39) V1253A probably benign Het
Psg29 G A 7: 16,942,458 (GRCm39) R153H probably benign Het
Rbm25 A G 12: 83,691,181 (GRCm39) M58V possibly damaging Het
Rbm28 T C 6: 29,125,353 (GRCm39) probably benign Het
Ryr2 A G 13: 11,671,933 (GRCm39) S3436P possibly damaging Het
Slc3a1 A G 17: 85,354,181 (GRCm39) I335V probably benign Het
Slc4a4 T C 5: 89,373,753 (GRCm39) F953S probably damaging Het
Spata20 A G 11: 94,375,404 (GRCm39) I130T possibly damaging Het
Spata31h1 T C 10: 82,119,481 (GRCm39) T4510A possibly damaging Het
Srcap T C 7: 127,148,471 (GRCm39) S1879P probably damaging Het
Stard3nl A T 13: 19,551,948 (GRCm39) M166K probably benign Het
Stard3nl G A 13: 19,560,736 (GRCm39) T13M probably damaging Het
Stil A G 4: 114,863,979 (GRCm39) T74A probably benign Het
Syt6 T G 3: 103,532,972 (GRCm39) M367R probably damaging Het
Tacc1 T C 8: 25,672,581 (GRCm39) T125A possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tcaf1 A G 6: 42,663,809 (GRCm39) S24P probably benign Het
Trim75 T G 8: 65,435,199 (GRCm39) Y417S probably damaging Het
Ttll12 T C 15: 83,464,321 (GRCm39) Y503C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Zfp593 T C 4: 133,972,077 (GRCm39) probably benign Het
Zfp956 T C 6: 47,939,476 (GRCm39) S175P 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
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
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'- TCTTTTACTGGTGGCAGATTTGAAC -3'
(R):5'- CATTCAGGAAATGGTGGTGC -3'

Sequencing Primer
(F):5'- TTTGAACACAGAAGATGCAGC -3'
(R):5'- CATTCAGGAAATGGTGGTGCTTTTTG -3'
Posted On 2015-11-11