Incidental Mutation 'R4445:Setd1b'
ID |
329831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd1b
|
Ensembl Gene |
ENSMUSG00000038384 |
Gene Name |
SET domain containing 1B |
Synonyms |
KMT2G |
MMRRC Submission |
041151-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4445 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123286167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 404
(E404D)
|
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: E404D
|
SMART Domains |
Protein: ENSMUSP00000134686 Gene: ENSMUSG00000038384 AA Change: E404D
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: E404D
|
SMART Domains |
Protein: ENSMUSP00000133933 Gene: ENSMUSG00000038384 AA Change: E404D
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: E404D
|
SMART Domains |
Protein: ENSMUSP00000134461 Gene: ENSMUSG00000038384 AA Change: E404D
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
Dync2i1 |
G |
A |
12: 116,171,335 (GRCm39) |
A967V |
probably damaging |
Het |
Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
Galnt10 |
T |
A |
11: 57,674,517 (GRCm39) |
V502D |
probably damaging |
Het |
Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
Mapkapk5 |
T |
C |
5: 121,663,291 (GRCm39) |
T445A |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
Slc25a54 |
G |
A |
3: 109,005,984 (GRCm39) |
R164H |
probably benign |
Het |
Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
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 |
|
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'- ATGTCCACAACTCAGCGGTG -3'
(R):5'- TCAGGACTCCAGCCAAAGGTAG -3'
Sequencing Primer
(F):5'- ACAGCTCCTTTCCGAGGC -3'
(R):5'- CAGCCAAAGGTAGGCCGAC -3'
|
Posted On |
2015-07-21 |