Incidental Mutation 'R0588:St18'
| ID | 55827 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
St18
|
|---|
| Ensembl Gene |
ENSMUSG00000033740 |
|---|
| Gene Name | suppression of tumorigenicity 18 |
|---|
| Synonyms | Nzf3, Myt3 |
|---|
| MMRRC Submission |
038778-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R0588 (G1)
|
|---|
| Quality Score | 219 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 1 |
|---|
| Chromosomal Location | 6487231-6860940 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 6817738 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Phenylalanine to Leucine
at position 510
(F510L)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131417
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043578]
[ENSMUST00000131494]
[ENSMUST00000140079]
[ENSMUST00000150761]
[ENSMUST00000151281]
[ENSMUST00000163727]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043578
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000042056
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 damaging
Transcript: ENSMUST00000131494
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000117789
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 damaging
Transcript: ENSMUST00000140079
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118322
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 damaging
Transcript: ENSMUST00000150761
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000120298
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 damaging
Transcript: ENSMUST00000151281
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000122055
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 damaging
Transcript: ENSMUST00000163727
AA Change: F510L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000131417
Gene: ENSMUSG00000033740
AA Change: F510L
| 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 |
0.6467
|
|---|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
|---|
| Validation Efficiency |
100% (25/25) |
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,603,061 |
K1299* |
probably null |
Het |
| Adamts2 |
G |
T |
11: 50,776,664 |
W476C |
probably damaging |
Het |
| Ankrd13c |
T |
C |
3: 158,005,817 |
F525L |
probably damaging |
Het |
| Arg1 |
T |
C |
10: 24,920,624 |
S102G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,973,024 |
D192V |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,745,337 |
E385G |
possibly damaging |
Het |
| Cacna1h |
A |
T |
17: 25,387,564 |
D1020E |
probably damaging |
Het |
| Calcb |
C |
T |
7: 114,720,126 |
H48Y |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,439,549 |
S4P |
probably damaging |
Het |
| Dcaf6 |
A |
G |
1: 165,420,223 |
I147T |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 122,044,291 |
|
probably benign |
Het |
| Fas |
T |
C |
19: 34,327,140 |
V267A |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,985,574 |
L84P |
probably damaging |
Het |
| Fyb |
T |
C |
15: 6,580,459 |
V171A |
probably benign |
Het |
| Gdap2 |
T |
A |
3: 100,170,001 |
M1K |
probably null |
Het |
| Gprc5b |
T |
A |
7: 118,983,995 |
Q217L |
probably benign |
Het |
| Lrrc69 |
A |
G |
4: 14,704,001 |
I273T |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,004,864 |
Q556K |
possibly damaging |
Het |
| Npy6r |
T |
A |
18: 44,275,821 |
V103E |
possibly damaging |
Het |
| Olfr1449 |
A |
G |
19: 12,934,747 |
Y3C |
probably benign |
Het |
| Shisa9 |
A |
G |
16: 12,267,774 |
T416A |
probably damaging |
Het |
| Slc26a9 |
C |
A |
1: 131,754,011 |
|
probably benign |
Het |
| Sostdc1 |
G |
T |
12: 36,317,021 |
|
probably benign |
Het |
| Zdhhc7 |
A |
G |
8: 120,083,367 |
|
probably benign |
Het |
|
|---|
| Other mutations in St18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:St18
|
APN |
1 |
6802572 |
missense |
probably benign |
0.07 |
|
IGL00840:St18
|
APN |
1 |
6833594 |
missense |
probably damaging |
1.00 |
|
IGL01016:St18
|
APN |
1 |
6844323 |
missense |
probably damaging |
0.98 |
|
IGL01116:St18
|
APN |
1 |
6802632 |
missense |
probably damaging |
0.96 |
|
IGL01719:St18
|
APN |
1 |
6845796 |
splice site |
probably benign |
|
|
IGL01885:St18
|
APN |
1 |
6844372 |
critical splice donor site |
probably null |
|
|
IGL02486:St18
|
APN |
1 |
6820083 |
missense |
probably damaging |
1.00 |
|
IGL02611:St18
|
APN |
1 |
6768890 |
splice site |
probably benign |
|
|
IGL02742:St18
|
APN |
1 |
6802316 |
splice site |
probably benign |
|
|
IGL02953:St18
|
APN |
1 |
6844113 |
splice site |
probably benign |
|
|
IGL02999:St18
|
APN |
1 |
6817605 |
missense |
probably benign |
0.01 |
|
IGL03092:St18
|
APN |
1 |
6768894 |
splice site |
probably benign |
|
|
Smallish
|
UTSW |
1 |
6855473 |
critical splice donor site |
probably null |
|
|
IGL03055:St18
|
UTSW |
1 |
6802735 |
missense |
probably damaging |
0.99 |
|
R0089:St18
|
UTSW |
1 |
6848948 |
missense |
probably benign |
0.02 |
|
R0257:St18
|
UTSW |
1 |
6819962 |
missense |
probably benign |
0.04 |
|
R0383:St18
|
UTSW |
1 |
6803024 |
missense |
probably damaging |
1.00 |
|
R0989:St18
|
UTSW |
1 |
6827881 |
missense |
probably benign |
0.04 |
|
R1068:St18
|
UTSW |
1 |
6795562 |
missense |
probably benign |
0.01 |
|
R1311:St18
|
UTSW |
1 |
6845644 |
missense |
probably damaging |
1.00 |
|
R1530:St18
|
UTSW |
1 |
6845569 |
critical splice acceptor site |
probably null |
|
|
R1723:St18
|
UTSW |
1 |
6810685 |
splice site |
probably benign |
|
|
R1926:St18
|
UTSW |
1 |
6802689 |
missense |
probably benign |
0.00 |
|
R1927:St18
|
UTSW |
1 |
6802712 |
missense |
probably benign |
0.00 |
|
R2035:St18
|
UTSW |
1 |
6802328 |
missense |
probably benign |
0.00 |
|
R2091:St18
|
UTSW |
1 |
6827971 |
missense |
probably benign |
0.08 |
|
R2139:St18
|
UTSW |
1 |
6810615 |
missense |
possibly damaging |
0.85 |
|
R2261:St18
|
UTSW |
1 |
6845572 |
missense |
probably damaging |
0.96 |
|
R2300:St18
|
UTSW |
1 |
6855402 |
missense |
probably damaging |
1.00 |
|
R2322:St18
|
UTSW |
1 |
6844124 |
nonsense |
probably null |
|
|
R2846:St18
|
UTSW |
1 |
6845587 |
missense |
probably damaging |
0.96 |
|
R3738:St18
|
UTSW |
1 |
6855473 |
critical splice donor site |
probably null |
|
|
R3739:St18
|
UTSW |
1 |
6855473 |
critical splice donor site |
probably null |
|
|
R3772:St18
|
UTSW |
1 |
6844329 |
missense |
probably damaging |
1.00 |
|
R3805:St18
|
UTSW |
1 |
6802353 |
missense |
probably damaging |
1.00 |
|
R3953:St18
|
UTSW |
1 |
6802893 |
missense |
probably damaging |
0.99 |
|
R4034:St18
|
UTSW |
1 |
6855473 |
critical splice donor site |
probably null |
|
|
R4036:St18
|
UTSW |
1 |
6827786 |
missense |
probably damaging |
1.00 |
|
R4407:St18
|
UTSW |
1 |
6827837 |
missense |
probably benign |
0.29 |
|
R4527:St18
|
UTSW |
1 |
6855423 |
missense |
probably damaging |
1.00 |
|
R4740:St18
|
UTSW |
1 |
6817604 |
missense |
probably benign |
|
|
R4838:St18
|
UTSW |
1 |
6802905 |
missense |
probably benign |
0.01 |
|
R5182:St18
|
UTSW |
1 |
6817653 |
missense |
probably benign |
0.03 |
|
R5186:St18
|
UTSW |
1 |
6802317 |
splice site |
probably null |
|
|
R5354:St18
|
UTSW |
1 |
6844171 |
missense |
probably damaging |
1.00 |
|
R5423:St18
|
UTSW |
1 |
6802616 |
missense |
possibly damaging |
0.91 |
|
R5724:St18
|
UTSW |
1 |
6770950 |
missense |
probably benign |
0.13 |
|
R6182:St18
|
UTSW |
1 |
6844118 |
splice site |
probably null |
|
|
R6491:St18
|
UTSW |
1 |
6827985 |
nonsense |
probably null |
|
|
R6503:St18
|
UTSW |
1 |
6795397 |
missense |
probably damaging |
1.00 |
|
R7037:St18
|
UTSW |
1 |
6803036 |
missense |
possibly damaging |
0.65 |
|
R7098:St18
|
UTSW |
1 |
6827842 |
missense |
probably damaging |
1.00 |
|
R7132:St18
|
UTSW |
1 |
6859127 |
missense |
|
|
|
R7144:St18
|
UTSW |
1 |
6833594 |
missense |
probably damaging |
1.00 |
|
R7150:St18
|
UTSW |
1 |
6803019 |
missense |
probably damaging |
1.00 |
|
R7334:St18
|
UTSW |
1 |
6802559 |
missense |
probably benign |
0.00 |
|
R7502:St18
|
UTSW |
1 |
6827970 |
missense |
probably benign |
0.09 |
|
R7729:St18
|
UTSW |
1 |
6802537 |
missense |
probably benign |
0.00 |
|
R7848:St18
|
UTSW |
1 |
6857445 |
critical splice donor site |
probably null |
|
|
R8088:St18
|
UTSW |
1 |
6828005 |
missense |
probably benign |
0.00 |
|
R8299:St18
|
UTSW |
1 |
6802992 |
missense |
probably benign |
0.01 |
|
R8338:St18
|
UTSW |
1 |
6809292 |
missense |
probably damaging |
1.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- GACAGGAAGGGGTAATTCCATCTGTTG -3'
(R):5'- CAGTTCAGTCTTCTCCATGAATGTGTCA -3'
Sequencing Primer
(F):5'- TGTTGTGAATTCTGACCAACAG -3'
(R):5'- tgggaggcagaggcaag -3'
|
|---|
| Posted On | 2013-07-11 |
|---|
