Incidental Mutation 'R0375:Setd1b'
| ID |
65631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1b
|
| Ensembl Gene |
ENSMUSG00000038384 |
| Gene Name |
SET domain containing 1B |
| Synonyms |
KMT2G |
| MMRRC Submission |
038581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0375 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123295500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 1023
(G1023S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056053]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
| AlphaFold |
Q8CFT2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056053
AA Change: G1023S
|
| SMART Domains |
Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: G1023S
| 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 |
unknown
Transcript: ENSMUST00000163030
AA Change: G1023S
|
| SMART Domains |
Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: G1023S
| 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 |
unknown
Transcript: ENSMUST00000174836
AA Change: G1023S
|
| SMART Domains |
Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: G1023S
| 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 |
0.1024 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
T |
A |
11: 25,719,092 (GRCm39) |
Y17F |
unknown |
Het |
| Aars2 |
A |
G |
17: 45,825,476 (GRCm39) |
D313G |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,006,273 (GRCm39) |
D1277E |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,661,530 (GRCm39) |
A981S |
probably damaging |
Het |
| Aff3 |
T |
G |
1: 38,244,021 (GRCm39) |
K917Q |
possibly damaging |
Het |
| BC049715 |
A |
T |
6: 136,816,994 (GRCm39) |
H78L |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,100,401 (GRCm39) |
T4707I |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,301,880 (GRCm39) |
A2027S |
possibly damaging |
Het |
| Camk1g |
G |
A |
1: 193,038,709 (GRCm39) |
|
probably benign |
Het |
| Carf |
T |
C |
1: 60,183,161 (GRCm39) |
V386A |
probably damaging |
Het |
| Cd46 |
A |
G |
1: 194,768,472 (GRCm39) |
S82P |
probably benign |
Het |
| Clic5 |
A |
G |
17: 44,581,510 (GRCm39) |
E180G |
possibly damaging |
Het |
| Col27a1 |
A |
G |
4: 63,143,898 (GRCm39) |
T529A |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,809,305 (GRCm39) |
R2627C |
unknown |
Het |
| Cuzd1 |
G |
A |
7: 130,913,637 (GRCm39) |
|
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,944,331 (GRCm39) |
D50G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,281,813 (GRCm39) |
V735A |
possibly damaging |
Het |
| Dhx57 |
T |
G |
17: 80,565,550 (GRCm39) |
E834A |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,603,936 (GRCm39) |
D801G |
probably damaging |
Het |
| Dtx1 |
T |
C |
5: 120,819,464 (GRCm39) |
E578G |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,265 (GRCm39) |
H116L |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,907 (GRCm39) |
I360V |
possibly damaging |
Het |
| Fignl2 |
G |
A |
15: 100,951,974 (GRCm39) |
P103S |
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,284,196 (GRCm39) |
T1006A |
probably benign |
Het |
| Ggnbp2 |
G |
T |
11: 84,727,200 (GRCm39) |
C545* |
probably null |
Het |
| Gm3336 |
A |
G |
8: 71,171,294 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,290 (GRCm39) |
N518S |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,218,440 (GRCm39) |
D312E |
possibly damaging |
Het |
| Hoxd10 |
C |
A |
2: 74,523,064 (GRCm39) |
S247R |
probably benign |
Het |
| Ifnb1 |
A |
T |
4: 88,440,981 (GRCm39) |
F11I |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,969,184 (GRCm39) |
|
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,820,930 (GRCm39) |
V879E |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,656 (GRCm39) |
F1291L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,382,586 (GRCm39) |
E529G |
probably damaging |
Het |
| Npm3 |
T |
C |
19: 45,736,668 (GRCm39) |
E157G |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,775 (GRCm39) |
T47A |
probably damaging |
Het |
| Or4a67 |
T |
A |
2: 88,597,985 (GRCm39) |
T225S |
possibly damaging |
Het |
| Or4a68 |
G |
T |
2: 89,269,740 (GRCm39) |
N294K |
probably benign |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,286 (GRCm39) |
V768A |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,495,564 (GRCm39) |
T14A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,105 (GRCm39) |
L1275P |
probably damaging |
Het |
| Rnf214 |
C |
A |
9: 45,811,121 (GRCm39) |
V181F |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,286,040 (GRCm39) |
N58S |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,069 (GRCm39) |
T79I |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,562,793 (GRCm39) |
V803A |
unknown |
Het |
| Slc25a46 |
T |
C |
18: 31,716,319 (GRCm39) |
I394M |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,657,935 (GRCm39) |
I101K |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 99,934,906 (GRCm39) |
T704K |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,193,058 (GRCm39) |
M266K |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,646,842 (GRCm39) |
V61A |
possibly damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,818,746 (GRCm39) |
L783H |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,993 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,394 (GRCm39) |
V2050A |
probably damaging |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,987 (GRCm39) |
N158K |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,013,121 (GRCm39) |
Y81N |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,726 (GRCm39) |
T173A |
probably benign |
Het |
| Ylpm1 |
T |
G |
12: 85,061,754 (GRCm39) |
S552A |
unknown |
Het |
| Zdhhc17 |
A |
T |
10: 110,817,967 (GRCm39) |
Y58* |
probably null |
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 |
|
|
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 |
|
|
R7770:Setd1b
|
UTSW |
5 |
123,296,815 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TGCCATTAACTAAGGCTGCCTGC -3'
(R):5'- TGATCCAGACCTTGTCGGAGCTTG -3'
Sequencing Primer
(F):5'- TTCAACCTCTGTGGATGAGGAAG -3'
(R):5'- ttcctcctcctcttcctctg -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation