Incidental Mutation 'R1723:St18'
| ID |
191587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St18
|
| Ensembl Gene |
ENSMUSG00000033740 |
| Gene Name |
suppression of tumorigenicity 18 |
| Synonyms |
Nzf3, Myt3 |
| MMRRC Submission |
039755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6557455-6931164 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 6880909 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 benign
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 benign
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 benign
Transcript: ENSMUST00000132207
|
| Predicted Effect |
probably benign
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 benign
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 |
probably benign
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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,051,551 (GRCm39) |
K1152I |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
| Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
| Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,519 (GRCm39) |
D728G |
probably damaging |
Het |
| Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
| Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,748,903 (GRCm39) |
D779V |
probably damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
| Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
| Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
| Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
| Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
| Uckl1 |
T |
A |
2: 181,212,393 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
| Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
possibly damaging |
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 |
|
|
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 |
|
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'- AAGGCAGACCACATTGTCACGC -3'
(R):5'- TTCTTCCAGGCAGGAAAGAAACCAG -3'
Sequencing Primer
(F):5'- ACATTGTCACGCTCACTCAC -3'
(R):5'- GGAGCCCACCTGTTATTACATTAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation