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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |