Incidental Mutation 'R0588:St18'
ID 55827
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 038778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0588 (G1)
Quality Score 219
Status Validated
Chromosome 1
Chromosomal Location 6487231-6860940 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6817738 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 510 (F510L)
Ref Sequence ENSEMBL: ENSMUSP00000131417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043578] [ENSMUST00000131494] [ENSMUST00000140079] [ENSMUST00000150761] [ENSMUST00000151281] [ENSMUST00000163727]
AlphaFold Q80TY4
Predicted Effect probably damaging
Transcript: ENSMUST00000043578
AA Change: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: F510L

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: ENSMUST00000140079
AA Change: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: F510L

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 damaging
Transcript: ENSMUST00000150761
AA Change: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: F510L

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: F510L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: F510L

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (25/25)
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,603,061 (GRCm38) K1299* probably null Het
Adamts2 G T 11: 50,776,664 (GRCm38) W476C probably damaging Het
Ankrd13c T C 3: 158,005,817 (GRCm38) F525L probably damaging Het
Arg1 T C 10: 24,920,624 (GRCm38) S102G probably damaging Het
Atp2a3 A T 11: 72,973,024 (GRCm38) D192V possibly damaging Het
Cabin1 T C 10: 75,745,337 (GRCm38) E385G possibly damaging Het
Cacna1h A T 17: 25,387,564 (GRCm38) D1020E probably damaging Het
Calcb C T 7: 114,720,126 (GRCm38) H48Y probably benign Het
Crtc1 A G 8: 70,439,549 (GRCm38) S4P probably damaging Het
Dcaf6 A G 1: 165,420,223 (GRCm38) I147T possibly damaging Het
Ears2 T C 7: 122,044,291 (GRCm38) probably benign Het
Fas T C 19: 34,327,140 (GRCm38) V267A probably damaging Het
Fus T C 7: 127,985,574 (GRCm38) L84P probably damaging Het
Fyb T C 15: 6,580,459 (GRCm38) V171A probably benign Het
Gdap2 T A 3: 100,170,001 (GRCm38) M1K probably null Het
Gprc5b T A 7: 118,983,995 (GRCm38) Q217L probably benign Het
Lrrc69 A G 4: 14,704,001 (GRCm38) I273T possibly damaging Het
Map4k4 C A 1: 40,004,864 (GRCm38) Q556K possibly damaging Het
Npy6r T A 18: 44,275,821 (GRCm38) V103E possibly damaging Het
Olfr1449 A G 19: 12,934,747 (GRCm38) Y3C probably benign Het
Shisa9 A G 16: 12,267,774 (GRCm38) T416A probably damaging Het
Slc26a9 C A 1: 131,754,011 (GRCm38) probably benign Het
Sostdc1 G T 12: 36,317,021 (GRCm38) probably benign Het
Zdhhc7 A G 8: 120,083,367 (GRCm38) probably benign 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
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
R4838:St18 UTSW 1 6,802,905 (GRCm38) missense probably benign 0.01
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'- GACAGGAAGGGGTAATTCCATCTGTTG -3'
(R):5'- CAGTTCAGTCTTCTCCATGAATGTGTCA -3'

Sequencing Primer
(F):5'- TGTTGTGAATTCTGACCAACAG -3'
(R):5'- tgggaggcagaggcaag -3'
Posted On 2013-07-11