Incidental Mutation 'R4838:St18'
ID 371480
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4838 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 6487231-6860940 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6802905 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 288 (T288K)
Ref Sequence ENSEMBL: ENSMUSP00000131417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000139838] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]
AlphaFold Q80TY4
Predicted Effect probably benign
Transcript: ENSMUST00000043578
AA Change: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: T288K

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: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: T288K

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 unknown
Transcript: ENSMUST00000132207
AA Change: T38K
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 benign
Transcript: ENSMUST00000140079
AA Change: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: T288K

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: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: T288K

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: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: T288K

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: T288K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: T288K

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,424,377 (GRCm38) D97V probably damaging Het
Abca15 T C 7: 120,345,300 (GRCm38) V386A probably benign Het
Adk G A 14: 21,369,086 (GRCm38) A247T probably damaging Het
Ankrd27 T A 7: 35,591,806 (GRCm38) L9Q possibly damaging Het
Atad2 A G 15: 58,103,283 (GRCm38) L638P probably damaging Het
Atf7ip T A 6: 136,596,491 (GRCm38) D1009E probably benign Het
Bend7 A T 2: 4,744,322 (GRCm38) K83N probably damaging Het
Bicc1 C T 10: 70,945,316 (GRCm38) D562N possibly damaging Het
Calcrl T A 2: 84,351,205 (GRCm38) N200Y probably damaging Het
Ccdc125 C A 13: 100,677,945 (GRCm38) A11E possibly damaging Het
Cd5l A G 3: 87,365,951 (GRCm38) T76A probably benign Het
Cdhr5 A T 7: 141,273,731 (GRCm38) I2N probably damaging Het
Cdk10 C T 8: 123,230,614 (GRCm38) A230V probably damaging Het
Cep128 T C 12: 90,999,545 (GRCm38) probably benign Het
Cep131 T C 11: 120,076,156 (GRCm38) N186D probably damaging Het
Cog7 G T 7: 121,971,381 (GRCm38) P168Q probably damaging Het
Col28a1 T A 6: 8,014,559 (GRCm38) M949L probably benign Het
Coq8b T A 7: 27,250,591 (GRCm38) M365K probably damaging Het
Cpa1 A G 6: 30,639,516 (GRCm38) E18G possibly damaging Het
Csmd2 A G 4: 128,517,749 (GRCm38) H2520R probably benign Het
Cyp2c69 T C 19: 39,877,594 (GRCm38) N185S probably benign Het
Dpm1 G A 2: 168,210,536 (GRCm38) T260I probably damaging Het
Dtx3 A T 10: 127,191,307 (GRCm38) probably null Het
Eepd1 T C 9: 25,589,460 (GRCm38) V401A possibly damaging Het
Ehhadh A G 16: 21,763,202 (GRCm38) S347P possibly damaging Het
Elp3 A G 14: 65,547,864 (GRCm38) probably null Het
Enam C T 5: 88,493,108 (GRCm38) Q210* probably null Het
Epha1 C T 6: 42,363,816 (GRCm38) R607H probably benign Het
Erich6 A G 3: 58,636,830 (GRCm38) I112T probably benign Het
F830045P16Rik A G 2: 129,460,550 (GRCm38) V374A possibly damaging Het
Fam171a2 C A 11: 102,438,685 (GRCm38) R416L possibly damaging Het
Fam35a A G 14: 34,268,625 (GRCm38) V108A probably benign Het
Fbn1 T C 2: 125,372,399 (GRCm38) N764S probably benign Het
Fip1l1 C T 5: 74,591,939 (GRCm38) T469I probably damaging Het
Flad1 G A 3: 89,405,910 (GRCm38) R342C probably damaging Het
Fzd3 A G 14: 65,239,820 (GRCm38) V95A probably benign Het
Garem1 T C 18: 21,147,893 (GRCm38) T469A probably benign Het
Gm13084 G A 4: 143,810,805 (GRCm38) Q319* probably null Het
Gm17093 A G 14: 44,518,348 (GRCm38) Y24C unknown Het
Gm4788 T A 1: 139,733,443 (GRCm38) D556V probably damaging Het
Gm7534 A G 4: 134,193,099 (GRCm38) V585A probably benign Het
Grap2 T C 15: 80,638,561 (GRCm38) V96A possibly damaging Het
Greb1 A T 12: 16,684,360 (GRCm38) probably null Het
Grid2ip A T 5: 143,388,775 (GRCm38) K913* probably null Het
Gzmk T C 13: 113,173,021 (GRCm38) D126G probably damaging Het
Hibch A G 1: 52,885,178 (GRCm38) I171V possibly damaging Het
Hipk2 G T 6: 38,818,404 (GRCm38) T310K possibly damaging Het
Hk3 T C 13: 55,006,418 (GRCm38) Y815C probably damaging Het
Hps5 A T 7: 46,788,354 (GRCm38) V99E probably damaging Het
Hspg2 A G 4: 137,541,666 (GRCm38) H2203R possibly damaging Het
Il12rb2 A G 6: 67,309,137 (GRCm38) V108A probably damaging Het
Il6st C T 13: 112,490,510 (GRCm38) R279* probably null Het
Kdm2a A C 19: 4,325,026 (GRCm38) S692R probably benign Het
Kif13a T C 13: 46,826,748 (GRCm38) K176R probably damaging Het
Kif5b T C 18: 6,216,869 (GRCm38) K485E probably damaging Het
Ktn1 C T 14: 47,725,956 (GRCm38) R1111* probably null Het
Lrrc23 A T 6: 124,778,189 (GRCm38) N128K probably benign Het
Mad1l1 G A 5: 140,300,262 (GRCm38) Q293* probably null Het
Man1b1 A T 2: 25,345,475 (GRCm38) I338F possibly damaging Het
March1 G T 8: 66,468,363 (GRCm38) V225L probably damaging Het
Mrpl3 A G 9: 105,057,032 (GRCm38) D118G probably damaging Het
Nomo1 A T 7: 46,083,715 (GRCm38) Q1209L unknown Het
Nrcam A G 12: 44,574,019 (GRCm38) E949G probably damaging Het
Olfm5 T G 7: 104,154,365 (GRCm38) N297T probably damaging Het
Olfr573-ps1 T A 7: 102,942,246 (GRCm38) L110F probably damaging Het
Pcdh7 A T 5: 57,720,804 (GRCm38) N567I probably damaging Het
Pkn1 A G 8: 83,677,966 (GRCm38) L495P probably damaging Het
Pkp1 T C 1: 135,882,588 (GRCm38) S415G probably damaging Het
Pou2f1 T A 1: 165,916,923 (GRCm38) Q53L probably null Het
Prkce A G 17: 86,630,083 (GRCm38) K648R probably benign Het
Ptprh G A 7: 4,573,430 (GRCm38) T277I possibly damaging Het
Rpl31 C T 1: 39,370,967 (GRCm38) R83C probably benign Het
Rpusd3 G A 6: 113,416,876 (GRCm38) Q194* probably null Het
Sgsm1 T A 5: 113,282,626 (GRCm38) N298Y probably damaging Het
She G A 3: 89,851,639 (GRCm38) G355D probably benign Het
Snx11 C T 11: 96,774,458 (GRCm38) E9K possibly damaging Het
Soat1 C A 1: 156,432,937 (GRCm38) A444S probably benign Het
Sox6 T C 7: 115,486,662 (GRCm38) Y690C probably damaging Het
Spata13 T A 14: 60,733,179 (GRCm38) F10I probably benign Het
Tifa C T 3: 127,796,586 (GRCm38) S2F probably damaging Het
Tmem232 A T 17: 65,430,888 (GRCm38) S392R probably benign Het
Tmtc3 T C 10: 100,466,220 (GRCm38) N289S probably damaging Het
Tpo A G 12: 30,092,634 (GRCm38) F697S probably damaging Het
Trp53 A G 11: 69,587,630 (GRCm38) T122A probably damaging Het
Trps1 A C 15: 50,827,316 (GRCm38) I10S probably benign Het
Tubgcp5 C T 7: 55,794,185 (GRCm38) probably benign Het
Unc13c T G 9: 73,932,072 (GRCm38) Y499S possibly damaging Het
Unc45a C A 7: 80,333,035 (GRCm38) D381Y probably damaging Het
Upf1 G C 8: 70,339,368 (GRCm38) H402Q probably benign Het
Uroc1 A T 6: 90,349,192 (GRCm38) I510F possibly damaging Het
Usp15 A G 10: 123,127,757 (GRCm38) F589L probably damaging Het
Vmn2r76 T C 7: 86,225,525 (GRCm38) Y748C probably damaging Het
Wwp1 T C 4: 19,662,143 (GRCm38) N151D probably benign Het
Zbtb40 A T 4: 137,001,216 (GRCm38) S439T probably benign Het
Zbtb6 A T 2: 37,428,716 (GRCm38) L400* probably null Het
Zfp125 C T 12: 20,899,960 (GRCm38) noncoding transcript Het
Zmynd8 A C 2: 165,840,034 (GRCm38) Y183* probably null Het
Other mutations in St18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:St18 APN 1 6,802,572 (GRCm38) missense probably benign 0.07
IGL00840:St18 APN 1 6,833,594 (GRCm38) missense probably damaging 1.00
IGL01016:St18 APN 1 6,844,323 (GRCm38) missense probably damaging 0.98
IGL01116:St18 APN 1 6,802,632 (GRCm38) missense probably damaging 0.96
IGL01719:St18 APN 1 6,845,796 (GRCm38) splice site probably benign
IGL01885:St18 APN 1 6,844,372 (GRCm38) critical splice donor site probably null
IGL02486:St18 APN 1 6,820,083 (GRCm38) missense probably damaging 1.00
IGL02611:St18 APN 1 6,768,890 (GRCm38) splice site probably benign
IGL02742:St18 APN 1 6,802,316 (GRCm38) splice site probably benign
IGL02953:St18 APN 1 6,844,113 (GRCm38) splice site probably benign
IGL02999:St18 APN 1 6,817,605 (GRCm38) missense probably benign 0.01
IGL03092:St18 APN 1 6,768,894 (GRCm38) splice site probably benign
Smallish UTSW 1 6,855,473 (GRCm38) critical splice donor site probably null
IGL03055:St18 UTSW 1 6,802,735 (GRCm38) missense probably damaging 0.99
R0089:St18 UTSW 1 6,848,948 (GRCm38) missense probably benign 0.02
R0257:St18 UTSW 1 6,819,962 (GRCm38) missense probably benign 0.04
R0383:St18 UTSW 1 6,803,024 (GRCm38) missense probably damaging 1.00
R0588:St18 UTSW 1 6,817,738 (GRCm38) missense probably damaging 0.99
R0989:St18 UTSW 1 6,827,881 (GRCm38) missense probably benign 0.04
R1068:St18 UTSW 1 6,795,562 (GRCm38) missense probably benign 0.01
R1311:St18 UTSW 1 6,845,644 (GRCm38) missense probably damaging 1.00
R1530:St18 UTSW 1 6,845,569 (GRCm38) critical splice acceptor site probably null
R1723:St18 UTSW 1 6,810,685 (GRCm38) splice site probably benign
R1926:St18 UTSW 1 6,802,689 (GRCm38) missense probably benign 0.00
R1927:St18 UTSW 1 6,802,712 (GRCm38) missense probably benign 0.00
R2035:St18 UTSW 1 6,802,328 (GRCm38) missense probably benign 0.00
R2091:St18 UTSW 1 6,827,971 (GRCm38) missense probably benign 0.08
R2139:St18 UTSW 1 6,810,615 (GRCm38) missense possibly damaging 0.85
R2261:St18 UTSW 1 6,845,572 (GRCm38) missense probably damaging 0.96
R2300:St18 UTSW 1 6,855,402 (GRCm38) missense probably damaging 1.00
R2322:St18 UTSW 1 6,844,124 (GRCm38) nonsense probably null
R2846:St18 UTSW 1 6,845,587 (GRCm38) missense probably damaging 0.96
R3738:St18 UTSW 1 6,855,473 (GRCm38) critical splice donor site probably null
R3739:St18 UTSW 1 6,855,473 (GRCm38) critical splice donor site probably null
R3772:St18 UTSW 1 6,844,329 (GRCm38) missense probably damaging 1.00
R3805:St18 UTSW 1 6,802,353 (GRCm38) missense probably damaging 1.00
R3953:St18 UTSW 1 6,802,893 (GRCm38) missense probably damaging 0.99
R4034:St18 UTSW 1 6,855,473 (GRCm38) critical splice donor site probably null
R4036:St18 UTSW 1 6,827,786 (GRCm38) missense probably damaging 1.00
R4407:St18 UTSW 1 6,827,837 (GRCm38) missense probably benign 0.29
R4527:St18 UTSW 1 6,855,423 (GRCm38) missense probably damaging 1.00
R4740:St18 UTSW 1 6,817,604 (GRCm38) missense probably benign
R5182:St18 UTSW 1 6,817,653 (GRCm38) missense probably benign 0.03
R5186:St18 UTSW 1 6,802,317 (GRCm38) splice site probably null
R5354:St18 UTSW 1 6,844,171 (GRCm38) missense probably damaging 1.00
R5423:St18 UTSW 1 6,802,616 (GRCm38) missense possibly damaging 0.91
R5724:St18 UTSW 1 6,770,950 (GRCm38) missense probably benign 0.13
R6182:St18 UTSW 1 6,844,118 (GRCm38) splice site probably null
R6491:St18 UTSW 1 6,827,985 (GRCm38) nonsense probably null
R6503:St18 UTSW 1 6,795,397 (GRCm38) missense probably damaging 1.00
R7037:St18 UTSW 1 6,803,036 (GRCm38) missense possibly damaging 0.65
R7098:St18 UTSW 1 6,827,842 (GRCm38) missense probably damaging 1.00
R7132:St18 UTSW 1 6,859,127 (GRCm38) missense
R7144:St18 UTSW 1 6,833,594 (GRCm38) missense probably damaging 1.00
R7150:St18 UTSW 1 6,803,019 (GRCm38) missense probably damaging 1.00
R7334:St18 UTSW 1 6,802,559 (GRCm38) missense probably benign 0.00
R7502:St18 UTSW 1 6,827,970 (GRCm38) missense probably benign 0.09
R7729:St18 UTSW 1 6,802,537 (GRCm38) missense probably benign 0.00
R7848:St18 UTSW 1 6,857,445 (GRCm38) critical splice donor site probably null
R8088:St18 UTSW 1 6,828,005 (GRCm38) missense probably benign 0.00
R8299:St18 UTSW 1 6,802,992 (GRCm38) missense probably benign 0.01
R8338:St18 UTSW 1 6,809,292 (GRCm38) missense probably damaging 1.00
R8690:St18 UTSW 1 6,802,564 (GRCm38) missense probably benign
R8753:St18 UTSW 1 6,845,791 (GRCm38) missense probably damaging 1.00
R8808:St18 UTSW 1 6,810,602 (GRCm38) missense probably damaging 1.00
R8880:St18 UTSW 1 6,795,395 (GRCm38) nonsense probably null
R9055:St18 UTSW 1 6,802,982 (GRCm38) nonsense probably null
R9292:St18 UTSW 1 6,827,882 (GRCm38) missense probably benign 0.32
R9322:St18 UTSW 1 6,795,523 (GRCm38) missense probably benign 0.00
R9530:St18 UTSW 1 6,802,773 (GRCm38) missense probably benign 0.00
R9603:St18 UTSW 1 6,845,587 (GRCm38) missense probably damaging 1.00
R9611:St18 UTSW 1 6,802,923 (GRCm38) missense probably benign 0.00
R9639:St18 UTSW 1 6,859,022 (GRCm38) missense
R9644:St18 UTSW 1 6,859,052 (GRCm38) missense
R9740:St18 UTSW 1 6,803,063 (GRCm38) nonsense probably null
R9750:St18 UTSW 1 6,802,992 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGCTCCAACTCATCAGAAG -3'
(R):5'- ATCAGTAACTCTAGGTTGCCTCC -3'

Sequencing Primer
(F):5'- AAGGACCTGTTGGAAGTTCC -3'
(R):5'- CGTTCCCTTGCCAGGTG -3'
Posted On 2016-03-01