Incidental Mutation 'R7770:Setd1b'
| ID |
598522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1b
|
| Ensembl Gene |
ENSMUSG00000038384 |
| Gene Name |
SET domain containing 1B |
| Synonyms |
KMT2G |
| MMRRC Submission |
045826-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 123296815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056053]
[ENSMUST00000162839]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
| AlphaFold |
Q8CFT2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056053
AA Change: E1259K
|
| SMART Domains |
Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: E1259K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
|
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
|
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
|
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
|
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
|
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162839
|
| SMART Domains |
Protein: ENSMUSP00000134353
Gene: ENSMUSG00000038384
| Domain | Start | End | E-Value | Type |
|---|
|
SET
|
1 |
86 |
7.26e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163030
AA Change: E1259K
|
| SMART Domains |
Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: E1259K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
|
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
|
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
|
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
|
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
|
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173221
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174836
AA Change: E1218K
|
| SMART Domains |
Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: E1218K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.92e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.92e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
coiled coil region
|
1149 |
1172 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1221 |
N/A |
INTRINSIC |
|
low complexity region
|
1240 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1361 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1443 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1559 |
1577 |
N/A |
INTRINSIC |
|
N-SET
|
1651 |
1795 |
1.54e-67 |
SMART |
|
SET
|
1805 |
1928 |
4.03e-36 |
SMART |
|
PostSET
|
1928 |
1944 |
4.8e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Meta Mutation Damage Score |
0.1069 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant animals died during organogenesis by E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,894 (GRCm39) |
V160E |
probably damaging |
Het |
| Abhd8 |
C |
T |
8: 71,910,894 (GRCm39) |
G305S |
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,231,579 (GRCm39) |
V870A |
probably benign |
Het |
| Agl |
A |
G |
3: 116,551,886 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
T |
6: 112,449,147 (GRCm39) |
D55V |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,648,831 (GRCm39) |
D556V |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,193 (GRCm39) |
Y254H |
probably benign |
Het |
| Commd8 |
A |
G |
5: 72,317,223 (GRCm39) |
L182S |
probably damaging |
Het |
| Cyp1b1 |
G |
A |
17: 80,020,728 (GRCm39) |
A338V |
probably damaging |
Het |
| Def8 |
C |
A |
8: 124,186,798 (GRCm39) |
D459E |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,943,214 (GRCm39) |
Y554C |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,665,460 (GRCm39) |
|
probably null |
Het |
| Dnajc5b |
T |
A |
3: 19,633,181 (GRCm39) |
C135S |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,293,890 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
C |
T |
5: 30,507,856 (GRCm39) |
Q293* |
probably null |
Het |
| Glmp |
A |
G |
3: 88,233,077 (GRCm39) |
S72G |
probably benign |
Het |
| Gm5431 |
A |
T |
11: 48,779,285 (GRCm39) |
S546T |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,247,782 (GRCm39) |
C70S |
probably benign |
Het |
| Gpr83 |
G |
A |
9: 14,778,170 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,016,112 (GRCm39) |
L292Q |
possibly damaging |
Het |
| Gzmd |
T |
C |
14: 56,368,720 (GRCm39) |
D58G |
probably damaging |
Het |
| Hoxa10 |
A |
G |
6: 52,211,245 (GRCm39) |
S224P |
possibly damaging |
Het |
| Hoxa13 |
G |
A |
6: 52,237,247 (GRCm39) |
|
probably benign |
Het |
| Igsf6 |
A |
G |
7: 120,667,548 (GRCm39) |
V156A |
probably benign |
Het |
| Il6st |
A |
T |
13: 112,639,338 (GRCm39) |
I649F |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,147 (GRCm39) |
V507M |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,307,899 (GRCm39) |
I253T |
probably damaging |
Het |
| Met |
T |
A |
6: 17,491,406 (GRCm39) |
V56D |
possibly damaging |
Het |
| Mettl22 |
A |
T |
16: 8,303,764 (GRCm39) |
I277F |
possibly damaging |
Het |
| Nadsyn1 |
G |
A |
7: 143,359,740 (GRCm39) |
R411W |
probably damaging |
Het |
| Nrros |
T |
G |
16: 31,962,346 (GRCm39) |
E557A |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,254 (GRCm39) |
H162Q |
probably benign |
Het |
| Or5w1 |
T |
C |
2: 87,486,813 (GRCm39) |
I151V |
not run |
Het |
| Or8j3b |
C |
T |
2: 86,205,604 (GRCm39) |
V51M |
possibly damaging |
Het |
| Pih1d2 |
G |
A |
9: 50,533,101 (GRCm39) |
R243Q |
not run |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,977 (GRCm39) |
V90A |
probably benign |
Het |
| Prmt9 |
T |
A |
8: 78,285,814 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbm28 |
G |
A |
6: 29,164,627 (GRCm39) |
|
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,065,934 (GRCm39) |
S150T |
probably damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,161,512 (GRCm39) |
V195A |
probably benign |
Het |
| Sesn1 |
T |
A |
10: 41,770,054 (GRCm39) |
I99N |
probably damaging |
Het |
| Slc22a19 |
T |
A |
19: 7,681,360 (GRCm39) |
|
probably null |
Het |
| Slc9a4 |
T |
C |
1: 40,640,123 (GRCm39) |
I305T |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,884,687 (GRCm39) |
N3K |
unknown |
Het |
| Spta1 |
C |
A |
1: 174,023,547 (GRCm39) |
Y651* |
probably null |
Het |
| Tatdn3 |
G |
A |
1: 190,791,053 (GRCm39) |
P74S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,186,056 (GRCm39) |
R1127Q |
possibly damaging |
Het |
| Tgfbi |
T |
A |
13: 56,780,657 (GRCm39) |
|
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,903 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,517,299 (GRCm39) |
Y10H |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,679 (GRCm39) |
S407T |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,336 (GRCm39) |
C24R |
probably damaging |
Het |
| Wdr24 |
C |
A |
17: 26,046,070 (GRCm39) |
A465D |
probably benign |
Het |
| Wfdc8 |
A |
G |
2: 164,439,594 (GRCm39) |
S263P |
unknown |
Het |
| Zc3h15 |
T |
A |
2: 83,488,476 (GRCm39) |
I138N |
possibly damaging |
Het |
|
| Other mutations in Setd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Setd1b
|
APN |
5 |
123,296,810 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01453:Setd1b
|
APN |
5 |
123,296,527 (GRCm39) |
intron |
probably benign |
|
|
IGL01637:Setd1b
|
APN |
5 |
123,286,576 (GRCm39) |
missense |
unknown |
|
|
IGL01792:Setd1b
|
APN |
5 |
123,295,209 (GRCm39) |
missense |
unknown |
|
|
IGL01877:Setd1b
|
APN |
5 |
123,286,511 (GRCm39) |
missense |
unknown |
|
|
IGL01906:Setd1b
|
APN |
5 |
123,295,730 (GRCm39) |
missense |
unknown |
|
|
IGL01942:Setd1b
|
APN |
5 |
123,301,489 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02284:Setd1b
|
APN |
5 |
123,301,491 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02667:Setd1b
|
APN |
5 |
123,295,560 (GRCm39) |
missense |
unknown |
|
|
IGL02850:Setd1b
|
APN |
5 |
123,286,652 (GRCm39) |
missense |
unknown |
|
|
IGL02864:Setd1b
|
APN |
5 |
123,297,002 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03006:Setd1b
|
APN |
5 |
123,286,514 (GRCm39) |
missense |
unknown |
|
|
IGL03307:Setd1b
|
APN |
5 |
123,286,734 (GRCm39) |
missense |
unknown |
|
|
P0037:Setd1b
|
UTSW |
5 |
123,303,984 (GRCm39) |
unclassified |
probably benign |
|
|
R0282:Setd1b
|
UTSW |
5 |
123,299,080 (GRCm39) |
unclassified |
probably benign |
|
|
R0375:Setd1b
|
UTSW |
5 |
123,295,500 (GRCm39) |
missense |
unknown |
|
|
R0550:Setd1b
|
UTSW |
5 |
123,295,723 (GRCm39) |
missense |
unknown |
|
|
R0607:Setd1b
|
UTSW |
5 |
123,298,014 (GRCm39) |
unclassified |
probably benign |
|
|
R0844:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Setd1b
|
UTSW |
5 |
123,298,766 (GRCm39) |
small insertion |
probably benign |
|
|
R1119:Setd1b
|
UTSW |
5 |
123,285,779 (GRCm39) |
missense |
unknown |
|
|
R1266:Setd1b
|
UTSW |
5 |
123,285,904 (GRCm39) |
missense |
unknown |
|
|
R1370:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R1416:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R1575:Setd1b
|
UTSW |
5 |
123,301,210 (GRCm39) |
splice site |
probably benign |
|
|
R1862:Setd1b
|
UTSW |
5 |
123,285,676 (GRCm39) |
missense |
unknown |
|
|
R1987:Setd1b
|
UTSW |
5 |
123,285,769 (GRCm39) |
missense |
unknown |
|
|
R4109:Setd1b
|
UTSW |
5 |
123,290,137 (GRCm39) |
small deletion |
probably benign |
|
|
R4399:Setd1b
|
UTSW |
5 |
123,299,861 (GRCm39) |
unclassified |
probably benign |
|
|
R4445:Setd1b
|
UTSW |
5 |
123,286,167 (GRCm39) |
missense |
unknown |
|
|
R4577:Setd1b
|
UTSW |
5 |
123,286,679 (GRCm39) |
missense |
unknown |
|
|
R4604:Setd1b
|
UTSW |
5 |
123,290,137 (GRCm39) |
small deletion |
probably benign |
|
|
R4647:Setd1b
|
UTSW |
5 |
123,286,175 (GRCm39) |
missense |
unknown |
|
|
R4648:Setd1b
|
UTSW |
5 |
123,286,175 (GRCm39) |
missense |
unknown |
|
|
R4675:Setd1b
|
UTSW |
5 |
123,299,061 (GRCm39) |
unclassified |
probably benign |
|
|
R5044:Setd1b
|
UTSW |
5 |
123,289,929 (GRCm39) |
missense |
unknown |
|
|
R5071:Setd1b
|
UTSW |
5 |
123,298,977 (GRCm39) |
unclassified |
probably benign |
|
|
R5220:Setd1b
|
UTSW |
5 |
123,281,471 (GRCm39) |
missense |
unknown |
|
|
R5933:Setd1b
|
UTSW |
5 |
123,296,815 (GRCm39) |
unclassified |
probably benign |
|
|
R6247:Setd1b
|
UTSW |
5 |
123,296,461 (GRCm39) |
intron |
probably benign |
|
|
R6446:Setd1b
|
UTSW |
5 |
123,299,862 (GRCm39) |
unclassified |
probably benign |
|
|
R6714:Setd1b
|
UTSW |
5 |
123,295,654 (GRCm39) |
missense |
unknown |
|
|
R6907:Setd1b
|
UTSW |
5 |
123,301,295 (GRCm39) |
unclassified |
probably benign |
|
|
R7328:Setd1b
|
UTSW |
5 |
123,290,442 (GRCm39) |
missense |
unknown |
|
|
R7412:Setd1b
|
UTSW |
5 |
123,290,639 (GRCm39) |
missense |
unknown |
|
|
R7486:Setd1b
|
UTSW |
5 |
123,301,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7542:Setd1b
|
UTSW |
5 |
123,286,510 (GRCm39) |
missense |
unknown |
|
|
R7555:Setd1b
|
UTSW |
5 |
123,295,820 (GRCm39) |
missense |
unknown |
|
|
R7611:Setd1b
|
UTSW |
5 |
123,290,657 (GRCm39) |
missense |
unknown |
|
|
R7764:Setd1b
|
UTSW |
5 |
123,284,622 (GRCm39) |
missense |
unknown |
|
|
R7881:Setd1b
|
UTSW |
5 |
123,290,336 (GRCm39) |
missense |
unknown |
|
|
R7977:Setd1b
|
UTSW |
5 |
123,285,743 (GRCm39) |
missense |
unknown |
|
|
R7987:Setd1b
|
UTSW |
5 |
123,285,743 (GRCm39) |
missense |
unknown |
|
|
R8131:Setd1b
|
UTSW |
5 |
123,281,443 (GRCm39) |
missense |
unknown |
|
|
R8386:Setd1b
|
UTSW |
5 |
123,282,319 (GRCm39) |
missense |
unknown |
|
|
R8845:Setd1b
|
UTSW |
5 |
123,282,310 (GRCm39) |
missense |
unknown |
|
|
R8901:Setd1b
|
UTSW |
5 |
123,299,114 (GRCm39) |
unclassified |
probably benign |
|
|
R9224:Setd1b
|
UTSW |
5 |
123,296,773 (GRCm39) |
missense |
unknown |
|
|
R9438:Setd1b
|
UTSW |
5 |
123,285,944 (GRCm39) |
missense |
unknown |
|
|
R9643:Setd1b
|
UTSW |
5 |
123,298,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Setd1b
|
UTSW |
5 |
123,298,046 (GRCm39) |
missense |
unknown |
|
|
Z1177:Setd1b
|
UTSW |
5 |
123,296,688 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGAGTCCGAGTCTTCATC -3'
(R):5'- ACCATGTTCAGGCGGTGATG -3'
Sequencing Primer
(F):5'- AGATGACCGTACCTGGGGTG -3'
(R):5'- CGGTGATGGGAGTTGAGCCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation