Incidental Mutation 'R6182:St18'
ID |
501808 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
St18
|
Ensembl Gene |
ENSMUSG00000033740 |
Gene Name |
suppression of tumorigenicity 18 |
Synonyms |
Nzf3, Myt3 |
MMRRC Submission |
044324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6182 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
6557455-6931164 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 6914342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043578]
[ENSMUST00000131494]
[ENSMUST00000140079]
[ENSMUST00000150761]
[ENSMUST00000151281]
[ENSMUST00000163727]
|
AlphaFold |
Q80TY4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043578
|
SMART Domains |
Protein: ENSMUSP00000042056 Gene: ENSMUSG00000033740
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 null
Transcript: ENSMUST00000131494
|
SMART Domains |
Protein: ENSMUSP00000117789 Gene: ENSMUSG00000033740
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 null
Transcript: ENSMUST00000140079
|
SMART Domains |
Protein: ENSMUSP00000118322 Gene: ENSMUSG00000033740
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 null
Transcript: ENSMUST00000150761
|
SMART Domains |
Protein: ENSMUSP00000120298 Gene: ENSMUSG00000033740
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 null
Transcript: ENSMUST00000151281
|
SMART Domains |
Protein: ENSMUSP00000122055 Gene: ENSMUSG00000033740
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 null
Transcript: ENSMUST00000163727
|
SMART Domains |
Protein: ENSMUSP00000131417 Gene: ENSMUSG00000033740
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
T |
C |
9: 90,074,489 (GRCm39) |
S884P |
probably benign |
Het |
Akap13 |
C |
A |
7: 75,236,028 (GRCm39) |
A201E |
probably benign |
Het |
Ces1f |
T |
G |
8: 93,983,124 (GRCm39) |
E540A |
probably benign |
Het |
Chid1 |
T |
A |
7: 141,108,415 (GRCm39) |
M137L |
probably benign |
Het |
Chsy3 |
A |
G |
18: 59,312,414 (GRCm39) |
T296A |
probably benign |
Het |
Clec4f |
A |
G |
6: 83,622,284 (GRCm39) |
V519A |
probably benign |
Het |
Clk4 |
T |
A |
11: 51,159,009 (GRCm39) |
F41I |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,183,390 (GRCm39) |
D32G |
probably benign |
Het |
Ctsl |
T |
C |
13: 64,515,786 (GRCm39) |
Y95C |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,036,005 (GRCm39) |
M302V |
probably benign |
Het |
Cyp2c65 |
C |
G |
19: 39,049,606 (GRCm39) |
L45V |
probably benign |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Daam1 |
C |
T |
12: 72,006,661 (GRCm39) |
Q693* |
probably null |
Het |
Dgcr8 |
A |
T |
16: 18,098,172 (GRCm39) |
D406E |
probably benign |
Het |
Dock2 |
G |
T |
11: 34,179,476 (GRCm39) |
P1760Q |
probably damaging |
Het |
Epb41l2 |
G |
A |
10: 25,383,715 (GRCm39) |
R940H |
probably damaging |
Het |
Erc2 |
A |
C |
14: 28,039,210 (GRCm39) |
D951A |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,723,078 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
A |
3: 53,555,390 (GRCm39) |
I1716F |
probably damaging |
Het |
Fus |
A |
G |
7: 127,576,465 (GRCm39) |
D295G |
probably damaging |
Het |
Gm5093 |
A |
G |
17: 46,750,568 (GRCm39) |
I153T |
probably benign |
Het |
Gnptab |
T |
C |
10: 88,265,342 (GRCm39) |
V318A |
possibly damaging |
Het |
Gpc2 |
T |
C |
5: 138,276,676 (GRCm39) |
D150G |
probably benign |
Het |
Gsc2 |
A |
G |
16: 17,731,483 (GRCm39) |
*215R |
probably null |
Het |
Hectd3 |
T |
C |
4: 116,857,476 (GRCm39) |
S552P |
probably damaging |
Het |
Katnal1 |
C |
A |
5: 148,841,407 (GRCm39) |
K152N |
possibly damaging |
Het |
Kcnh1 |
A |
T |
1: 191,873,361 (GRCm39) |
T16S |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,653,101 (GRCm39) |
D105G |
probably benign |
Het |
Mon2 |
T |
C |
10: 122,874,564 (GRCm39) |
|
probably null |
Het |
Mroh9 |
G |
A |
1: 162,893,612 (GRCm39) |
Q188* |
probably null |
Het |
Mtmr14 |
A |
G |
6: 113,246,469 (GRCm39) |
S81G |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,350,130 (GRCm39) |
M628L |
probably benign |
Het |
Odad3 |
A |
G |
9: 21,901,698 (GRCm39) |
F553S |
probably damaging |
Het |
Or1o1 |
T |
A |
17: 37,716,883 (GRCm39) |
I148K |
possibly damaging |
Het |
Or5k1 |
A |
G |
16: 58,617,655 (GRCm39) |
Y185H |
probably damaging |
Het |
Pals2 |
A |
G |
6: 50,175,206 (GRCm39) |
I506V |
probably benign |
Het |
Pate4 |
A |
T |
9: 35,519,586 (GRCm39) |
S35T |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,815,555 (GRCm39) |
E1452G |
probably benign |
Het |
Pld5 |
T |
C |
1: 175,872,420 (GRCm39) |
D239G |
probably benign |
Het |
Ppef2 |
C |
T |
5: 92,374,925 (GRCm39) |
V728M |
probably damaging |
Het |
Rasip1 |
TGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGC |
7: 45,277,879 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
C |
A |
12: 104,115,690 (GRCm39) |
V285L |
probably benign |
Het |
Serpinb9f |
T |
C |
13: 33,518,405 (GRCm39) |
S302P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,811,626 (GRCm39) |
V1642I |
probably benign |
Het |
Slc12a4 |
G |
A |
8: 106,674,531 (GRCm39) |
L601F |
probably damaging |
Het |
Slc39a6 |
G |
T |
18: 24,734,013 (GRCm39) |
N225K |
probably benign |
Het |
Snrnp70 |
G |
A |
7: 45,026,497 (GRCm39) |
R291* |
probably null |
Het |
Spin1 |
C |
T |
13: 51,298,374 (GRCm39) |
T131I |
probably benign |
Het |
Stox1 |
A |
G |
10: 62,500,721 (GRCm39) |
L613P |
probably damaging |
Het |
Tgm3 |
T |
G |
2: 129,867,221 (GRCm39) |
Y155* |
probably null |
Het |
Tmem67 |
T |
C |
4: 12,051,402 (GRCm39) |
I809V |
probably benign |
Het |
Tnc |
T |
A |
4: 63,927,033 (GRCm39) |
D831V |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,909,981 (GRCm39) |
E762D |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,601,015 (GRCm39) |
V937E |
probably damaging |
Het |
Vmn1r34 |
A |
G |
6: 66,614,312 (GRCm39) |
I142T |
probably damaging |
Het |
Vmn2r104 |
A |
G |
17: 20,250,507 (GRCm39) |
M588T |
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,460,957 (GRCm39) |
V761A |
probably damaging |
Het |
Wdr48 |
G |
T |
9: 119,753,832 (GRCm39) |
G665W |
probably damaging |
Het |
Xpot |
T |
A |
10: 121,442,163 (GRCm39) |
R550S |
probably damaging |
Het |
Ydjc |
A |
G |
16: 16,964,943 (GRCm39) |
T33A |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,226,764 (GRCm39) |
T274A |
probably benign |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,940 (GRCm39) |
C859S |
probably damaging |
Het |
Zscan4c |
T |
C |
7: 10,740,709 (GRCm39) |
M76T |
probably benign |
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 |
R4407:St18
|
UTSW |
1 |
6,898,061 (GRCm39) |
missense |
probably benign |
0.29 |
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 |
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'- AATTGTTTCATGCCACCACC -3'
(R):5'- TTTCCTTGCACGAGGGCAAC -3'
Sequencing Primer
(F):5'- CATATGTGTGTGTCAGATAGAAGATG -3'
(R):5'- GGCAACCAGACAAGCTAAAAAG -3'
|
Posted On |
2017-12-04 |