Incidental Mutation 'R7729:St18'
ID 595672
Institutional Source Beutler Lab
Gene Symbol St18
Ensembl Gene ENSMUSG00000033740
Gene Name suppression of tumorigenicity 18
Synonyms Nzf3, Myt3
MMRRC Submission 045785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7729 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 6487231-6860940 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6802537 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 165 (H165Q)
Ref Sequence ENSEMBL: ENSMUSP00000042056 (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: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: H165Q

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: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: H165Q

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: ENSMUST00000132207
Predicted Effect probably benign
Transcript: ENSMUST00000139838
AA Change: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118129
Gene: ENSMUSG00000033740
AA Change: H165Q

DomainStartEndE-ValueType
low complexity region 188 198 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140079
AA Change: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: H165Q

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: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: H165Q

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: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: H165Q

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: H165Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: H165Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik C T 13: 59,741,623 (GRCm38) M794I not run Het
1810024B03Rik T G 2: 127,186,790 (GRCm38) D163A possibly damaging Het
Abce1 A T 8: 79,687,908 (GRCm38) I454N probably damaging Het
Acaca A G 11: 84,371,513 (GRCm38) I1980M probably damaging Het
Adgrb2 C T 4: 129,992,124 (GRCm38) T19M probably benign Het
Agmo T A 12: 37,414,975 (GRCm38) S417T probably benign Het
Akap8l T C 17: 32,333,094 (GRCm38) E403G probably damaging Het
Art5 C T 7: 102,098,504 (GRCm38) A23T possibly damaging Het
Atg9a T C 1: 75,184,560 (GRCm38) T681A probably benign Het
Atp11b A G 3: 35,778,107 (GRCm38) Q37R probably damaging Het
Atp2a2 T C 5: 122,491,766 (GRCm38) E80G probably benign Het
AW551984 G A 9: 39,599,775 (GRCm38) P172L possibly damaging Het
Bace1 C T 9: 45,858,445 (GRCm38) R296C probably damaging Het
Ccser1 T A 6: 61,311,856 (GRCm38) H334Q probably benign Het
Chtf18 C T 17: 25,723,517 (GRCm38) R449H probably damaging Het
Cit A G 5: 115,984,822 (GRCm38) H1384R possibly damaging Het
Cltc A G 11: 86,721,648 (GRCm38) I524T probably benign Het
Dctn1 T A 6: 83,183,060 (GRCm38) I94N probably damaging Het
Ddx58 T A 4: 40,206,034 (GRCm38) I853F possibly damaging Het
Dnhd1 A T 7: 105,705,265 (GRCm38) D3078V probably damaging Het
Dock7 G A 4: 99,055,446 (GRCm38) P520S Het
Epb41l4a C A 18: 33,854,273 (GRCm38) K350N probably damaging Het
Eprs T A 1: 185,413,169 (GRCm38) Y1130N probably damaging Het
Fcgrt T C 7: 45,095,373 (GRCm38) T224A probably damaging Het
Flt1 T A 5: 147,700,367 (GRCm38) T39S probably benign Het
Fxyd1 T C 7: 31,053,471 (GRCm38) Y33C probably damaging Het
Gab2 T A 7: 97,301,426 (GRCm38) V442E probably damaging Het
Ganab A G 19: 8,914,712 (GRCm38) D800G probably benign Het
Gata4 C A 14: 63,240,737 (GRCm38) A138S probably benign Het
Golga4 A G 9: 118,556,063 (GRCm38) H751R possibly damaging Het
Hist1h1t A G 13: 23,696,472 (GRCm38) R203G possibly damaging Het
Htra4 A G 8: 25,037,077 (GRCm38) V234A possibly damaging Het
Igkv4-74 A T 6: 69,184,970 (GRCm38) Y72N probably damaging Het
Iqsec3 T C 6: 121,383,981 (GRCm38) K973E probably damaging Het
Khdc1b C A 1: 21,384,841 (GRCm38) T108K probably benign Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 142,296,596 (GRCm38) probably benign Het
Kyat3 A G 3: 142,726,305 (GRCm38) probably null Het
Lrba T A 3: 86,318,167 (GRCm38) V666E probably damaging Het
Mettl25 T A 10: 105,766,010 (GRCm38) Y528F probably benign Het
Mms19 A T 19: 41,952,465 (GRCm38) Y619* probably null Het
Nlrp12 A C 7: 3,228,388 (GRCm38) probably null Het
Nol10 C T 12: 17,424,675 (GRCm38) L623F possibly damaging Het
Oas1g A G 5: 120,886,000 (GRCm38) F82S probably damaging Het
Olfr1537 G A 9: 39,238,250 (GRCm38) P58L probably benign Het
Olfr195 C T 16: 59,149,207 (GRCm38) A119V probably damaging Het
Olfr335-ps T G 2: 36,301,760 (GRCm38) S74A probably benign Het
Oxr1 G A 15: 41,823,467 (GRCm38) E582K probably damaging Het
Pdia3 A G 2: 121,432,357 (GRCm38) D268G possibly damaging Het
Pramef12 T C 4: 144,392,864 (GRCm38) S378G probably damaging Het
Rcor3 A G 1: 192,101,778 (GRCm38) Y387H probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,911 (GRCm38) probably benign Het
Rsl1 T C 13: 67,182,220 (GRCm38) L244P possibly damaging Het
Scn5a G T 9: 119,495,540 (GRCm38) N1407K probably damaging Het
Sdcbp C T 4: 6,378,985 (GRCm38) A24V probably benign Het
Slc22a8 A G 19: 8,593,959 (GRCm38) Y18C possibly damaging Het
Slc35d1 C T 4: 103,214,847 (GRCm38) R7H probably damaging Het
Slco6d1 A T 1: 98,497,523 (GRCm38) T599S probably damaging Het
Sub1 C T 15: 11,986,503 (GRCm38) R86K probably damaging Het
Tectb G A 19: 55,192,672 (GRCm38) V148M Het
Tgfb2 C A 1: 186,630,757 (GRCm38) G290V possibly damaging Het
Tgm7 T C 2: 121,093,710 (GRCm38) H577R probably benign Het
Tle2 T C 10: 81,587,147 (GRCm38) S460P probably damaging Het
Tmem221 C A 8: 71,558,802 (GRCm38) R3L possibly damaging Het
Tnfrsf19 C A 14: 60,974,734 (GRCm38) V156L possibly damaging Het
Trav6-5 A G 14: 53,491,507 (GRCm38) K75E probably benign Het
Trip10 G A 17: 57,262,442 (GRCm38) G488S probably damaging Het
Usp34 A C 11: 23,449,268 (GRCm38) K2419T Het
Vps13d T C 4: 145,075,052 (GRCm38) Q3532R Het
Vps4a A T 8: 107,040,897 (GRCm38) I163L probably damaging Het
Wrn T C 8: 33,324,426 (GRCm38) H330R probably benign Het
Xpr1 T C 1: 155,312,872 (GRCm38) I341V probably benign Het
Zfyve9 T C 4: 108,691,776 (GRCm38) E105G 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
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
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
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'- TTACCTGCACAAGACAGCTC -3'
(R):5'- CACCTGTTCTCACAAGGGATAAAC -3'

Sequencing Primer
(F):5'- GACAGCTCACTCCAGAAGAAAG -3'
(R):5'- TTATCTCAGGAACTTCCAACAGGTC -3'
Posted On 2019-11-12