Incidental Mutation 'R7848:St18'
| ID |
606707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
St18
|
| Ensembl Gene |
ENSMUSG00000033740 |
| Gene Name |
suppression of tumorigenicity 18 |
| Synonyms |
Nzf3, Myt3 |
| MMRRC Submission |
045902-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
6487231-6860940 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 6857445 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042056
(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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,192,141 |
A2T |
probably damaging |
Het |
| Abca3 |
G |
T |
17: 24,384,532 |
G566V |
probably damaging |
Het |
| Aff4 |
C |
A |
11: 53,404,512 |
N846K |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,499,843 |
R714Q |
probably benign |
Het |
| BC027072 |
T |
C |
17: 71,749,193 |
D1163G |
probably benign |
Het |
| Cbln1 |
T |
C |
8: 87,471,700 |
T126A |
probably damaging |
Het |
| Ccdc84 |
A |
G |
9: 44,413,642 |
S139P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,396,123 |
S446P |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,841,508 |
Q676R |
probably damaging |
Het |
| Col26a1 |
T |
C |
5: 136,747,053 |
K349E |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,928,186 |
I1174V |
unknown |
Het |
| Cyth1 |
TGGGCAA |
T |
11: 118,183,923 |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,840,490 |
D64G |
possibly damaging |
Het |
| Dnajc15 |
T |
C |
14: 77,840,203 |
H114R |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,316,526 |
F1390S |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,161,877 |
I116T |
possibly damaging |
Het |
| Fam120b |
T |
C |
17: 15,405,774 |
V463A |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 38,887,851 |
M298V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,905,602 |
M1197K |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,650,601 |
I127F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,917 |
|
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,190,648 |
V238E |
probably damaging |
Het |
| Gnpat |
C |
A |
8: 124,886,891 |
Q626K |
possibly damaging |
Het |
| Gstm7 |
A |
T |
3: 107,928,586 |
|
probably null |
Het |
| Gys2 |
G |
T |
6: 142,446,015 |
S507* |
probably null |
Het |
| Ippk |
T |
A |
13: 49,443,496 |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,191,737 |
N623I |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 167,106,268 |
F220S |
probably damaging |
Het |
| Kiz |
T |
A |
2: 146,889,180 |
S197T |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,108,100 |
N479S |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 31,958,248 |
*60W |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,633,854 |
N124S |
probably damaging |
Het |
| Man2a2 |
G |
C |
7: 80,368,865 |
A82G |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,905,871 |
V373A |
probably damaging |
Het |
| Mapkapk5 |
A |
G |
5: 121,545,169 |
I11T |
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,938,379 |
Q967* |
probably null |
Het |
| Mthfd1l |
A |
G |
10: 4,083,739 |
T709A |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,645,921 |
T939A |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,490,379 |
H394Y |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,648,418 |
N161K |
possibly damaging |
Het |
| Nr2c1 |
C |
T |
10: 94,190,646 |
S461L |
probably benign |
Het |
| Nrg3 |
T |
C |
14: 38,668,283 |
E323G |
probably damaging |
Het |
| Nufip1 |
G |
A |
14: 76,114,221 |
R172H |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,203,905 |
T1705A |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,222,780 |
R215C |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,592,433 |
L99P |
probably damaging |
Het |
| Olfr1349 |
T |
C |
7: 6,514,862 |
D189G |
probably damaging |
Het |
| Olfr644 |
T |
A |
7: 104,068,095 |
N312I |
probably benign |
Het |
| Pcdh18 |
A |
T |
3: 49,755,997 |
S290T |
possibly damaging |
Het |
| Pklr |
T |
G |
3: 89,142,978 |
I378S |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 156,096,216 |
M712K |
probably benign |
Het |
| Rnase10 |
T |
C |
14: 51,009,513 |
V116A |
possibly damaging |
Het |
| Scube3 |
T |
C |
17: 28,165,595 |
L621P |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 72,492,436 |
I51V |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,779,924 |
T633A |
probably benign |
Het |
| Tcrg-V5 |
G |
A |
13: 19,192,679 |
V99I |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,202,355 |
I509N |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,360,621 |
K443E |
probably damaging |
Het |
| Tmem98 |
T |
G |
11: 80,819,932 |
V139G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,497,372 |
E232G |
probably damaging |
Het |
| Zfp442 |
T |
C |
2: 150,411,226 |
N39D |
possibly damaging |
Het |
|
| Other mutations in St18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:St18
|
APN |
1 |
6,802,572 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL00840:St18
|
APN |
1 |
6,833,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01016:St18
|
APN |
1 |
6,844,323 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01116:St18
|
APN |
1 |
6,802,632 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01719:St18
|
APN |
1 |
6,845,796 (GRCm38) |
splice site |
probably benign |
|
|
IGL01885:St18
|
APN |
1 |
6,844,372 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02486:St18
|
APN |
1 |
6,820,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02611:St18
|
APN |
1 |
6,768,890 (GRCm38) |
splice site |
probably benign |
|
|
IGL02742:St18
|
APN |
1 |
6,802,316 (GRCm38) |
splice site |
probably benign |
|
|
IGL02953:St18
|
APN |
1 |
6,844,113 (GRCm38) |
splice site |
probably benign |
|
|
IGL02999:St18
|
APN |
1 |
6,817,605 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03092:St18
|
APN |
1 |
6,768,894 (GRCm38) |
splice site |
probably benign |
|
|
Smallish
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03055:St18
|
UTSW |
1 |
6,802,735 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0089:St18
|
UTSW |
1 |
6,848,948 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0257:St18
|
UTSW |
1 |
6,819,962 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0383:St18
|
UTSW |
1 |
6,803,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0588:St18
|
UTSW |
1 |
6,817,738 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0989:St18
|
UTSW |
1 |
6,827,881 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1068:St18
|
UTSW |
1 |
6,795,562 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1311:St18
|
UTSW |
1 |
6,845,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1530:St18
|
UTSW |
1 |
6,845,569 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1723:St18
|
UTSW |
1 |
6,810,685 (GRCm38) |
splice site |
probably benign |
|
|
R1926:St18
|
UTSW |
1 |
6,802,689 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1927:St18
|
UTSW |
1 |
6,802,712 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2035:St18
|
UTSW |
1 |
6,802,328 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2091:St18
|
UTSW |
1 |
6,827,971 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2139:St18
|
UTSW |
1 |
6,810,615 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2261:St18
|
UTSW |
1 |
6,845,572 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2300:St18
|
UTSW |
1 |
6,855,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2322:St18
|
UTSW |
1 |
6,844,124 (GRCm38) |
nonsense |
probably null |
|
|
R2846:St18
|
UTSW |
1 |
6,845,587 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3738:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3739:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3772:St18
|
UTSW |
1 |
6,844,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3805:St18
|
UTSW |
1 |
6,802,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3953:St18
|
UTSW |
1 |
6,802,893 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4034:St18
|
UTSW |
1 |
6,855,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4036:St18
|
UTSW |
1 |
6,827,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4407:St18
|
UTSW |
1 |
6,827,837 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4527:St18
|
UTSW |
1 |
6,855,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4740:St18
|
UTSW |
1 |
6,817,604 (GRCm38) |
missense |
probably benign |
|
|
R4838:St18
|
UTSW |
1 |
6,802,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5182:St18
|
UTSW |
1 |
6,817,653 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5186:St18
|
UTSW |
1 |
6,802,317 (GRCm38) |
splice site |
probably null |
|
|
R5354:St18
|
UTSW |
1 |
6,844,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5423:St18
|
UTSW |
1 |
6,802,616 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5724:St18
|
UTSW |
1 |
6,770,950 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6182:St18
|
UTSW |
1 |
6,844,118 (GRCm38) |
splice site |
probably null |
|
|
R6491:St18
|
UTSW |
1 |
6,827,985 (GRCm38) |
nonsense |
probably null |
|
|
R6503:St18
|
UTSW |
1 |
6,795,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7037:St18
|
UTSW |
1 |
6,803,036 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7098:St18
|
UTSW |
1 |
6,827,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7132:St18
|
UTSW |
1 |
6,859,127 (GRCm38) |
missense |
|
|
|
R7144:St18
|
UTSW |
1 |
6,833,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7150:St18
|
UTSW |
1 |
6,803,019 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7334:St18
|
UTSW |
1 |
6,802,559 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7502:St18
|
UTSW |
1 |
6,827,970 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7729:St18
|
UTSW |
1 |
6,802,537 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8088:St18
|
UTSW |
1 |
6,828,005 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8299:St18
|
UTSW |
1 |
6,802,992 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8338:St18
|
UTSW |
1 |
6,809,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8690:St18
|
UTSW |
1 |
6,802,564 (GRCm38) |
missense |
probably benign |
|
|
R8753:St18
|
UTSW |
1 |
6,845,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8808:St18
|
UTSW |
1 |
6,810,602 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8880:St18
|
UTSW |
1 |
6,795,395 (GRCm38) |
nonsense |
probably null |
|
|
R9055:St18
|
UTSW |
1 |
6,802,982 (GRCm38) |
nonsense |
probably null |
|
|
R9292:St18
|
UTSW |
1 |
6,827,882 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9322:St18
|
UTSW |
1 |
6,795,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9530:St18
|
UTSW |
1 |
6,802,773 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9603:St18
|
UTSW |
1 |
6,845,587 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9611:St18
|
UTSW |
1 |
6,802,923 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9639:St18
|
UTSW |
1 |
6,859,022 (GRCm38) |
missense |
|
|
|
R9644:St18
|
UTSW |
1 |
6,859,052 (GRCm38) |
missense |
|
|
|
R9740:St18
|
UTSW |
1 |
6,803,063 (GRCm38) |
nonsense |
probably null |
|
|
R9750:St18
|
UTSW |
1 |
6,802,992 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCACTTACATCTAGCTTCAG -3'
(R):5'- GCCACTGGCCTTGAATTATCTG -3'
Sequencing Primer
(F):5'- GGTTTCCCCCAGAGACCTTTTAAAG -3'
(R):5'- CTGGCCTTGAATTATCTGAATATGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation