Incidental Mutation 'R3739:St18'
| ID |
270265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St18
|
| Ensembl Gene |
ENSMUSG00000033740 |
| Gene Name |
suppression of tumorigenicity 18 |
| Synonyms |
Nzf3, Myt3 |
| MMRRC Submission |
040725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6557455-6931164 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 6925697 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 benign
Transcript: ENSMUST00000130338
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.9482 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,992 (GRCm39) |
I1027V |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,210,668 (GRCm39) |
L318P |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,869,078 (GRCm39) |
I46N |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,180,415 (GRCm39) |
W7S |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,993,009 (GRCm39) |
H177R |
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,718,913 (GRCm39) |
D220G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,307,975 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Galnt1 |
A |
G |
18: 24,404,712 (GRCm39) |
T350A |
probably benign |
Het |
| Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
| Gfm1 |
T |
C |
3: 67,364,033 (GRCm39) |
I503T |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
T |
C |
14: 124,204,090 (GRCm39) |
F394L |
probably damaging |
Het |
| Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,850,328 (GRCm39) |
I41F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,863 (GRCm39) |
H164Q |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,563 (GRCm39) |
H882R |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,736,441 (GRCm39) |
D1514G |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,777,757 (GRCm39) |
I441T |
probably benign |
Het |
| Ntng1 |
A |
T |
3: 109,842,007 (GRCm39) |
D255E |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,730,913 (GRCm39) |
K3138N |
unknown |
Het |
| Pcsk7 |
A |
G |
9: 45,838,057 (GRCm39) |
T572A |
possibly damaging |
Het |
| Pex11a |
C |
T |
7: 79,389,918 (GRCm39) |
R56H |
possibly damaging |
Het |
| Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
| Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,956,469 (GRCm39) |
E566G |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,750,983 (GRCm39) |
S1315P |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,967,138 (GRCm39) |
E412G |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,693,441 (GRCm39) |
V48A |
probably damaging |
Het |
| Tubb6 |
A |
G |
18: 67,535,121 (GRCm39) |
Y340C |
probably damaging |
Het |
| Vmn1r197 |
C |
A |
13: 22,512,746 (GRCm39) |
Y222* |
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,413 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp362 |
C |
G |
4: 128,680,682 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably 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 |
|
|
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 |
|
|
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'- GAAAGCTGGTTCTTTCTCACTC -3'
(R):5'- TGCTGAGTCAATAGCCACAG -3'
Sequencing Primer
(F):5'- TTCTCACTCCATTTTCTTAGAAAGC -3'
(R):5'- CAGATGCAAGACTCAGGA -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation