Incidental Mutation 'R9438:Setd1b'
| ID |
713361 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1b
|
| Ensembl Gene |
ENSMUSG00000038384 |
| Gene Name |
SET domain containing 1B |
| Synonyms |
KMT2G |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9438 (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 123285944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 330
(H330R)
|
| 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: H330R
|
| SMART Domains |
Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: H330R
| 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: H330R
|
| SMART Domains |
Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: H330R
| 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: H330R
|
| SMART Domains |
Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: H330R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
G |
A |
2: 91,033,339 (GRCm39) |
M20I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,432,525 (GRCm39) |
P121L |
probably benign |
Het |
| Arhgap39 |
C |
A |
15: 76,636,118 (GRCm39) |
R39L |
probably damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,215,631 (GRCm39) |
N261K |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,361,409 (GRCm39) |
A838T |
probably damaging |
Het |
| Cacng8 |
G |
A |
7: 3,463,919 (GRCm39) |
S357N |
unknown |
Het |
| Calhm5 |
T |
C |
10: 33,972,049 (GRCm39) |
M129V |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Cdk19 |
T |
A |
10: 40,352,176 (GRCm39) |
D319E |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,799,078 (GRCm39) |
S2336P |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,144,024 (GRCm39) |
|
probably null |
Het |
| Cts6 |
G |
A |
13: 61,350,069 (GRCm39) |
T4I |
probably benign |
Het |
| Ddt |
A |
T |
10: 75,607,332 (GRCm39) |
I98N |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,026,443 (GRCm39) |
V465G |
unknown |
Het |
| Dnah2 |
G |
T |
11: 69,364,220 (GRCm39) |
D2064E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,827,190 (GRCm39) |
N969D |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,627,120 (GRCm39) |
V1447E |
probably benign |
Het |
| Efs |
T |
A |
14: 55,156,868 (GRCm39) |
D389V |
|
Het |
| Gbp11 |
T |
A |
5: 105,474,471 (GRCm39) |
K402* |
probably null |
Het |
| Grm7 |
A |
T |
6: 111,231,077 (GRCm39) |
D500V |
possibly damaging |
Het |
| Hecw1 |
T |
C |
13: 14,481,414 (GRCm39) |
M439V |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,754,434 (GRCm39) |
S551P |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,839 (GRCm39) |
S779P |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,068,166 (GRCm39) |
N2437S |
probably benign |
Het |
| Kbtbd12 |
G |
A |
6: 88,591,040 (GRCm39) |
Q391* |
probably null |
Het |
| Kcnma1 |
T |
C |
14: 23,417,653 (GRCm39) |
I859V |
probably benign |
Het |
| Klri1 |
A |
C |
6: 129,675,879 (GRCm39) |
D130E |
probably benign |
Het |
| Krt9 |
A |
G |
11: 100,079,824 (GRCm39) |
Y523H |
unknown |
Het |
| Ldhc |
G |
T |
7: 46,515,857 (GRCm39) |
V51F |
possibly damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,366 (GRCm39) |
D5890E |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,045,952 (GRCm39) |
S613G |
probably damaging |
Het |
| Mrpl55 |
A |
G |
11: 59,096,581 (GRCm39) |
D118G |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,559,028 (GRCm39) |
T2422A |
unknown |
Het |
| Nfkbib |
T |
A |
7: 28,459,654 (GRCm39) |
D219V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,632 (GRCm39) |
K50E |
probably damaging |
Het |
| Nudcd1 |
C |
T |
15: 44,269,321 (GRCm39) |
R113H |
probably benign |
Het |
| Or5p55 |
A |
T |
7: 107,567,000 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or7e170 |
C |
T |
9: 19,795,083 (GRCm39) |
E173K |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,326 (GRCm39) |
C127* |
probably null |
Het |
| Papln |
A |
T |
12: 83,818,606 (GRCm39) |
T63S |
probably benign |
Het |
| Pax4 |
T |
C |
6: 28,446,185 (GRCm39) |
I103V |
possibly damaging |
Het |
| Pitpnm2 |
G |
A |
5: 124,269,342 (GRCm39) |
H427Y |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,193,867 (GRCm39) |
V52E |
probably damaging |
Het |
| Prr23a4 |
G |
A |
9: 98,785,833 (GRCm39) |
S166N |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,364,226 (GRCm39) |
H600R |
unknown |
Het |
| Rbbp6 |
G |
A |
7: 122,599,456 (GRCm39) |
V1256I |
|
Het |
| Rexo1 |
T |
A |
10: 80,378,848 (GRCm39) |
T1063S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,265,574 (GRCm39) |
R387G |
possibly damaging |
Het |
| Rufy3 |
T |
C |
5: 88,796,124 (GRCm39) |
S603P |
probably benign |
Het |
| Strc |
A |
T |
2: 121,198,647 (GRCm39) |
W1415R |
probably damaging |
Het |
| Tcstv5 |
A |
G |
13: 120,411,363 (GRCm39) |
L81P |
probably benign |
Het |
| Terf2 |
C |
A |
8: 107,803,504 (GRCm39) |
A359S |
probably benign |
Het |
| Tmod1 |
A |
G |
4: 46,093,958 (GRCm39) |
N223S |
probably damaging |
Het |
| Tram2 |
T |
A |
1: 21,075,834 (GRCm39) |
I195F |
possibly damaging |
Het |
| Trap1 |
T |
C |
16: 3,883,131 (GRCm39) |
Q148R |
probably benign |
Het |
| Tsks |
C |
T |
7: 44,607,095 (GRCm39) |
R143* |
probably null |
Het |
| Ttc14 |
T |
A |
3: 33,858,861 (GRCm39) |
H373Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,747,748 (GRCm39) |
K4434E |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,522,833 (GRCm39) |
D347G |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,858,314 (GRCm39) |
E2170G |
|
Het |
| Xrn1 |
T |
C |
9: 95,893,287 (GRCm39) |
I1001T |
probably benign |
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 |
|
|
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 |
|
|
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'- CAAAGATGGCAGCCTGTCTG -3'
(R):5'- ATTTGAATCCAGAAGCCGTGG -3'
Sequencing Primer
(F):5'- AGTCACCCCCAATAGCGGTG -3'
(R):5'- CCGTGGCTGTTTGGGCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation