Incidental Mutation 'IGL01637:Setd1b'
ID |
93059 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Setd1b
|
Ensembl Gene |
ENSMUSG00000038384 |
Gene Name |
SET domain containing 1B |
Synonyms |
KMT2G |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01637
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123286576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 541
(S541P)
|
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: S541P
|
SMART Domains |
Protein: ENSMUSP00000134686 Gene: ENSMUSG00000038384 AA Change: S541P
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: ENSMUST00000100731
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163030
AA Change: S541P
|
SMART Domains |
Protein: ENSMUSP00000133933 Gene: ENSMUSG00000038384 AA Change: S541P
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: S541P
|
SMART Domains |
Protein: ENSMUSP00000134461 Gene: ENSMUSG00000038384 AA Change: S541P
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,604,109 (GRCm39) |
I384N |
probably damaging |
Het |
Adsl |
G |
T |
15: 80,832,901 (GRCm39) |
Q51H |
probably null |
Het |
Apcdd1 |
A |
G |
18: 63,070,357 (GRCm39) |
E208G |
probably damaging |
Het |
Arrdc4 |
G |
A |
7: 68,394,580 (GRCm39) |
R155* |
probably null |
Het |
Atp9b |
T |
C |
18: 80,799,670 (GRCm39) |
E823G |
probably benign |
Het |
Bmp1 |
A |
G |
14: 70,729,901 (GRCm39) |
W468R |
probably damaging |
Het |
C6 |
A |
G |
15: 4,789,399 (GRCm39) |
I281M |
possibly damaging |
Het |
Ccdc88b |
T |
C |
19: 6,824,078 (GRCm39) |
T1392A |
probably benign |
Het |
Dhx34 |
G |
T |
7: 15,939,398 (GRCm39) |
S665Y |
probably damaging |
Het |
Dock1 |
A |
T |
7: 134,739,542 (GRCm39) |
|
probably null |
Het |
Dpp7 |
T |
C |
2: 25,244,625 (GRCm39) |
N252S |
probably benign |
Het |
Dyrk2 |
A |
G |
10: 118,696,412 (GRCm39) |
V282A |
probably damaging |
Het |
Edrf1 |
T |
C |
7: 133,252,254 (GRCm39) |
L401P |
probably damaging |
Het |
Epc1 |
A |
G |
18: 6,439,724 (GRCm39) |
V150A |
probably benign |
Het |
Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
Gabrg1 |
T |
A |
5: 70,934,548 (GRCm39) |
T277S |
probably damaging |
Het |
Galntl5 |
T |
C |
5: 25,394,823 (GRCm39) |
|
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,304,073 (GRCm39) |
N56S |
probably damaging |
Het |
Gfm2 |
T |
A |
13: 97,286,917 (GRCm39) |
V172E |
probably damaging |
Het |
Gm10419 |
T |
C |
5: 108,520,224 (GRCm39) |
|
probably benign |
Het |
Gm7293 |
A |
G |
9: 51,534,906 (GRCm39) |
|
noncoding transcript |
Het |
Gstm3 |
T |
C |
3: 107,874,949 (GRCm39) |
E101G |
probably damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,413,856 (GRCm39) |
W2R |
possibly damaging |
Het |
Ighv13-1 |
A |
T |
12: 114,231,353 (GRCm39) |
|
probably benign |
Het |
Ighv7-1 |
T |
A |
12: 113,860,123 (GRCm39) |
I90F |
possibly damaging |
Het |
Itga2b |
A |
G |
11: 102,346,409 (GRCm39) |
L1009P |
probably damaging |
Het |
Kif1a |
A |
G |
1: 92,967,575 (GRCm39) |
V1112A |
possibly damaging |
Het |
Kif5a |
A |
T |
10: 127,081,237 (GRCm39) |
D232E |
possibly damaging |
Het |
Klb |
G |
A |
5: 65,533,022 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
G |
A |
10: 103,051,489 (GRCm39) |
A421V |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,058,845 (GRCm39) |
R721C |
probably damaging |
Het |
Mrpl48 |
G |
T |
7: 100,199,739 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
A |
5: 112,988,495 (GRCm39) |
R1030S |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,437,946 (GRCm39) |
H2101Q |
probably damaging |
Het |
Nlrp3 |
C |
A |
11: 59,440,204 (GRCm39) |
L594I |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,376 (GRCm39) |
T2013I |
probably damaging |
Het |
Or2ah1 |
A |
T |
2: 85,653,332 (GRCm39) |
T6S |
probably benign |
Het |
Or2y3 |
G |
A |
17: 38,392,994 (GRCm39) |
L292F |
possibly damaging |
Het |
Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
Or6c216 |
A |
G |
10: 129,678,479 (GRCm39) |
L144P |
probably benign |
Het |
Or7g27 |
T |
C |
9: 19,250,260 (GRCm39) |
F168S |
probably damaging |
Het |
Panx3 |
T |
C |
9: 37,575,352 (GRCm39) |
D170G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,590,048 (GRCm39) |
S783G |
unknown |
Het |
Pde3b |
T |
A |
7: 114,126,136 (GRCm39) |
L790* |
probably null |
Het |
Pik3r2 |
T |
C |
8: 71,224,992 (GRCm39) |
|
probably benign |
Het |
Rassf4 |
A |
G |
6: 116,618,651 (GRCm39) |
F211L |
probably damaging |
Het |
Rbl2 |
C |
T |
8: 91,833,066 (GRCm39) |
P666S |
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,935,437 (GRCm39) |
F979L |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,015,172 (GRCm39) |
D788E |
probably benign |
Het |
Serpina3b |
A |
G |
12: 104,099,216 (GRCm39) |
T244A |
probably benign |
Het |
Slc12a4 |
T |
C |
8: 106,687,339 (GRCm39) |
D60G |
possibly damaging |
Het |
Stac2 |
T |
C |
11: 97,932,180 (GRCm39) |
E241G |
probably benign |
Het |
Tafa3 |
C |
T |
3: 104,680,395 (GRCm39) |
V75M |
probably damaging |
Het |
Tas2r115 |
A |
G |
6: 132,714,592 (GRCm39) |
Y120H |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,205,946 (GRCm39) |
F450I |
probably benign |
Het |
Txnl1 |
A |
T |
18: 63,807,262 (GRCm39) |
I198N |
probably damaging |
Het |
Ubr2 |
A |
T |
17: 47,267,580 (GRCm39) |
M1049K |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,759 (GRCm39) |
E136G |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,241,066 (GRCm39) |
T3623I |
probably damaging |
Het |
Usp13 |
T |
A |
3: 32,973,213 (GRCm39) |
S797T |
probably benign |
Het |
Vmn1r173 |
A |
T |
7: 23,402,373 (GRCm39) |
T203S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,622,699 (GRCm39) |
I1718N |
probably damaging |
Het |
Zfr |
A |
G |
15: 12,159,732 (GRCm39) |
H676R |
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 |
|
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 |
|
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 |
|
|
Posted On |
2013-12-09 |