Incidental Mutation 'R7987:Setd1b'
| ID |
651525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1b
|
| Ensembl Gene |
ENSMUSG00000038384 |
| Gene Name |
SET domain containing 1B |
| Synonyms |
KMT2G |
| MMRRC Submission |
046028-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7987 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123285743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 263
(D263G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056053]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
| AlphaFold |
Q8CFT2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056053
AA Change: D263G
|
| SMART Domains |
Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: D263G
| 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: D263G
|
| SMART Domains |
Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: D263G
| 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: D263G
|
| SMART Domains |
Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: D263G
| 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 |
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (50/52) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
G |
T |
2: 32,464,317 (GRCm39) |
Q161K |
unknown |
Het |
| Acsl5 |
T |
C |
19: 55,266,405 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,754,987 (GRCm39) |
I695N |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,356 (GRCm39) |
D2176G |
unknown |
Het |
| Atp6v0a2 |
G |
A |
5: 124,797,050 (GRCm39) |
G810D |
probably damaging |
Het |
| Bod1l |
A |
C |
5: 41,952,413 (GRCm39) |
N2868K |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,060,769 (GRCm39) |
T526A |
probably benign |
Het |
| C9 |
T |
A |
15: 6,496,943 (GRCm39) |
Y213* |
probably null |
Het |
| Cacna1i |
G |
A |
15: 80,204,553 (GRCm39) |
|
probably null |
Het |
| Card6 |
T |
A |
15: 5,130,007 (GRCm39) |
N463I |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,319 (GRCm39) |
Y485C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,917,194 (GRCm39) |
F260L |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,963,498 (GRCm39) |
D2304G |
probably damaging |
Het |
| Dnase1 |
A |
G |
16: 3,855,834 (GRCm39) |
D55G |
probably damaging |
Het |
| Ecsit |
C |
A |
9: 21,984,780 (GRCm39) |
R296L |
probably damaging |
Het |
| Entpd8 |
A |
G |
2: 24,974,778 (GRCm39) |
D403G |
probably damaging |
Het |
| Epha2 |
C |
A |
4: 141,035,791 (GRCm39) |
Q76K |
probably damaging |
Het |
| Exoc1 |
T |
A |
5: 76,691,432 (GRCm39) |
V252E |
probably damaging |
Het |
| Fmnl3 |
T |
A |
15: 99,225,979 (GRCm39) |
H225L |
possibly damaging |
Het |
| Gm4565 |
A |
C |
7: 22,282,812 (GRCm39) |
M2R |
probably benign |
Het |
| Gpr146 |
G |
T |
5: 139,378,440 (GRCm39) |
A81S |
possibly damaging |
Het |
| Heg1 |
C |
A |
16: 33,541,100 (GRCm39) |
S419* |
probably null |
Het |
| Hps5 |
A |
C |
7: 46,418,475 (GRCm39) |
I865S |
probably benign |
Het |
| Hsp90ab1 |
A |
C |
17: 45,882,532 (GRCm39) |
I54S |
probably damaging |
Het |
| Hyal4 |
T |
G |
6: 24,763,865 (GRCm39) |
M342R |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,927,470 (GRCm39) |
T987A |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,931 (GRCm39) |
T1428A |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,959 (GRCm39) |
D893G |
probably benign |
Het |
| Mst1r |
A |
T |
9: 107,789,997 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
G |
T |
5: 148,168,836 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 70,161,277 (GRCm39) |
T1174A |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,534 (GRCm39) |
R424H |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,831,462 (GRCm39) |
E33G |
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,838 (GRCm39) |
I31V |
probably benign |
Het |
| Or7d10 |
T |
C |
9: 19,831,610 (GRCm39) |
F35S |
possibly damaging |
Het |
| Palm |
C |
T |
10: 79,629,539 (GRCm39) |
|
probably benign |
Het |
| Papln |
A |
G |
12: 83,822,156 (GRCm39) |
E337G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Slc10a7 |
T |
A |
8: 79,423,843 (GRCm39) |
F202I |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,986,526 (GRCm39) |
I455V |
probably benign |
Het |
| Snip1 |
G |
T |
4: 124,960,732 (GRCm39) |
G63W |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,888,857 (GRCm39) |
Y1981F |
probably damaging |
Het |
| Tagln2 |
A |
G |
1: 172,332,820 (GRCm39) |
T36A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,194 (GRCm39) |
S2746P |
possibly damaging |
Het |
| Tob2 |
G |
A |
15: 81,735,681 (GRCm39) |
P96L |
probably damaging |
Het |
| Triobp |
T |
A |
15: 78,885,744 (GRCm39) |
Y1816N |
probably damaging |
Het |
| Trpc3 |
A |
G |
3: 36,698,318 (GRCm39) |
I647T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,721,905 (GRCm39) |
S6600P |
unknown |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,159 (GRCm39) |
I116T |
probably benign |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,264 (GRCm39) |
Y308* |
probably null |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,015 (GRCm39) |
T296I |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,772,016 (GRCm39) |
T562A |
probably benign |
Het |
| Wdfy2 |
A |
G |
14: 63,189,380 (GRCm39) |
D283G |
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 |
|
|
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 |
|
|
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'- CAGCCAAAGTTTTAGCGGGAAG -3'
(R):5'- TGTAGGCATCTGTGAACTTGC -3'
Sequencing Primer
(F):5'- GAAGCAGCTCAATTGCCTGGTTC -3'
(R):5'- TAGGCATCTGTGAACTTGCTCTCG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation