Incidental Mutation 'R4407:St18'
ID 327685
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 041689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4407 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 6557455-6931164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6898061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 621 (I621T)
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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: I621T

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: ENSMUST00000151015
Predicted Effect probably benign
Transcript: ENSMUST00000151281
AA Change: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: I621T

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: I621T

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: I621T

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 0.1169 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830035A12Rik T C 11: 107,422,881 (GRCm39) noncoding transcript Het
Bbs10 A G 10: 111,135,720 (GRCm39) T278A probably benign Het
Bcl6b A G 11: 70,116,929 (GRCm39) L450P probably damaging Het
Braf T G 6: 39,592,654 (GRCm39) K674Q probably damaging Het
Cep112 C T 11: 108,410,027 (GRCm39) T481I possibly damaging Het
Cep135 T A 5: 76,772,514 (GRCm39) M633K probably benign Het
Cpped1 T C 16: 11,623,285 (GRCm39) Y278C probably damaging Het
Depdc5 T A 5: 33,061,878 (GRCm39) probably null Het
Dolpp1 C T 2: 30,286,464 (GRCm39) A128V possibly damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Fat4 A T 3: 39,012,689 (GRCm39) D2328V probably benign Het
Fbln1 T A 15: 85,115,757 (GRCm39) probably null Het
Fkbp3 T C 12: 65,116,778 (GRCm39) T53A probably damaging Het
Flg2 G T 3: 93,122,176 (GRCm39) G1449C unknown Het
G530012D18Rik G C 1: 85,504,923 (GRCm39) probably benign Het
Glyctk A T 9: 106,034,307 (GRCm39) probably benign Het
Gm6430 T C 1: 96,953,297 (GRCm39) noncoding transcript Het
Golga1 C A 2: 38,909,653 (GRCm39) probably null Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
L3mbtl3 A G 10: 26,189,782 (GRCm39) V494A unknown Het
Lama2 AATCAGACAGGAG A 10: 27,088,124 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,335 (GRCm39) L907Q possibly damaging Het
Lrp2 A T 2: 69,332,861 (GRCm39) V1552D probably damaging Het
Map3k12 T C 15: 102,413,837 (GRCm39) T45A probably damaging Het
Mycbp2 A T 14: 103,524,664 (GRCm39) D665E probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Or4p7 A T 2: 88,222,427 (GRCm39) M279L probably benign Het
Pcdhac2 G T 18: 37,277,499 (GRCm39) V160L probably benign Het
Pcnt T C 10: 76,210,704 (GRCm39) E2473G possibly damaging Het
Pitpnm2 T A 5: 124,290,678 (GRCm39) I3L possibly damaging Het
Prkd3 C A 17: 79,290,987 (GRCm39) W176L probably damaging Het
Prpf39 C T 12: 65,103,040 (GRCm39) A438V probably damaging Het
Rpgrip1 T A 14: 52,384,856 (GRCm39) F655I probably damaging Het
Rrp12 T C 19: 41,880,990 (GRCm39) Y147C probably damaging Het
Sec23b A T 2: 144,416,638 (GRCm39) N429Y possibly damaging Het
Slc2a10 T A 2: 165,356,684 (GRCm39) S115T probably damaging Het
Spg11 A C 2: 121,905,813 (GRCm39) D1277E probably benign Het
Sspo A G 6: 48,437,454 (GRCm39) D1279G probably damaging Het
Tbc1d31 T A 15: 57,783,438 (GRCm39) D112E possibly damaging Het
Tdpoz6 C A 3: 93,599,419 (GRCm39) V317L probably benign Het
Tgm4 A T 9: 122,885,595 (GRCm39) D379V probably damaging Het
Thyn1 A T 9: 26,914,893 (GRCm39) D15V possibly damaging Het
Timd6 A G 11: 46,468,207 (GRCm39) T94A probably damaging Het
Tm4sf19 T C 16: 32,226,712 (GRCm39) V167A possibly damaging Het
Trim38 A C 13: 23,975,474 (GRCm39) Q471P probably benign Het
Trmt1 T A 8: 85,424,384 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp9y T C Y: 1,336,375 (GRCm39) I1500V probably benign Het
Vgll4 C T 6: 114,867,573 (GRCm39) probably null Het
Vmn1r173 T A 7: 23,402,441 (GRCm39) N225K probably damaging Het
Vmn2r22 C T 6: 123,614,913 (GRCm39) G226R probably damaging Het
Wnk3 C A X: 150,016,209 (GRCm39) P555Q probably benign Het
Yes1 T G 5: 32,797,929 (GRCm39) Y83D possibly damaging Het
Zdhhc15 G A X: 103,604,294 (GRCm39) R322* 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
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
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'- CATGGGACTGTTCTTTAAAGTCTGC -3'
(R):5'- TGTCTTCCCATGGGATTTGC -3'

Sequencing Primer
(F):5'- GGACTGTTCTTTAAAGTCTGCATAAG -3'
(R):5'- CTATAGTTGATGGGCACATTCCAGC -3'
Posted On 2015-07-07