Incidental Mutation 'R7764:Setd1b'
ID |
598115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd1b
|
Ensembl Gene |
ENSMUSG00000038384 |
Gene Name |
SET domain containing 1B |
Synonyms |
KMT2G |
MMRRC Submission |
045820-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7764 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 123284622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Proline
at position 184
(R184P)
|
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: R184P
|
SMART Domains |
Protein: ENSMUSP00000134686 Gene: ENSMUSG00000038384 AA Change: R184P
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: R184P
|
SMART Domains |
Protein: ENSMUSP00000133933 Gene: ENSMUSG00000038384 AA Change: R184P
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: R184P
|
SMART Domains |
Protein: ENSMUSP00000134461 Gene: ENSMUSG00000038384 AA Change: R184P
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
G |
16: 20,368,040 (GRCm39) |
L93V |
probably benign |
Het |
Adss2 |
A |
C |
1: 177,591,827 (GRCm39) |
M452R |
probably damaging |
Het |
Aldh3b1 |
T |
A |
19: 3,971,563 (GRCm39) |
K102* |
probably null |
Het |
Ccdc162 |
A |
T |
10: 41,566,109 (GRCm39) |
V78D |
possibly damaging |
Het |
Ccr3 |
T |
C |
9: 123,829,451 (GRCm39) |
V262A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,890 (GRCm39) |
|
probably null |
Het |
Cdyl |
A |
T |
13: 36,000,126 (GRCm39) |
T136S |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,121,567 (GRCm39) |
D1015G |
probably null |
Het |
Cntn2 |
C |
A |
1: 132,450,101 (GRCm39) |
A598S |
probably benign |
Het |
Cxxc4 |
G |
T |
3: 133,945,856 (GRCm39) |
G146C |
unknown |
Het |
Dnah2 |
G |
A |
11: 69,348,984 (GRCm39) |
T2501I |
probably benign |
Het |
Dock8 |
T |
A |
19: 25,074,899 (GRCm39) |
I471N |
probably benign |
Het |
Eaf2 |
A |
G |
16: 36,645,045 (GRCm39) |
V59A |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,736 (GRCm39) |
I65F |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,017,333 (GRCm39) |
V577A |
possibly damaging |
Het |
Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
Fosb |
T |
C |
7: 19,038,971 (GRCm39) |
D271G |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,272,891 (GRCm39) |
Y834H |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,811,252 (GRCm39) |
S2524P |
possibly damaging |
Het |
Gbp3 |
A |
G |
3: 142,271,024 (GRCm39) |
T143A |
probably benign |
Het |
Grk2 |
A |
T |
19: 4,337,391 (GRCm39) |
L632Q |
probably damaging |
Het |
Hars1 |
A |
T |
18: 36,903,237 (GRCm39) |
D364E |
probably damaging |
Het |
Hsd17b4 |
G |
T |
18: 50,279,482 (GRCm39) |
G154* |
probably null |
Het |
Kif5c |
T |
C |
2: 49,617,973 (GRCm39) |
|
probably null |
Het |
Kif5c |
T |
C |
2: 49,639,339 (GRCm39) |
L800P |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,218 (GRCm39) |
N282S |
probably benign |
Het |
Med23 |
T |
G |
10: 24,785,818 (GRCm39) |
|
probably null |
Het |
Meltf |
A |
G |
16: 31,699,085 (GRCm39) |
Q65R |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,598,842 (GRCm39) |
S1106P |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,655,242 (GRCm39) |
T733A |
probably damaging |
Het |
Mul1 |
G |
A |
4: 138,162,080 (GRCm39) |
G4S |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk |
G |
T |
16: 34,742,553 (GRCm39) |
V1022L |
probably benign |
Het |
Ncald |
G |
T |
15: 37,397,454 (GRCm39) |
N75K |
probably damaging |
Het |
Nfib |
A |
G |
4: 82,238,731 (GRCm39) |
S492P |
possibly damaging |
Het |
Notch2 |
A |
T |
3: 98,050,304 (GRCm39) |
I1860F |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,111 (GRCm39) |
I281T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,683,263 (GRCm39) |
S298P |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,190,082 (GRCm39) |
D2818G |
probably benign |
Het |
Pmpcb |
G |
A |
5: 21,948,450 (GRCm39) |
A244T |
probably damaging |
Het |
Poln |
A |
G |
5: 34,274,151 (GRCm39) |
|
probably null |
Het |
Polr1a |
G |
A |
6: 71,930,054 (GRCm39) |
V914M |
probably damaging |
Het |
Rab15 |
A |
C |
12: 76,851,215 (GRCm39) |
|
probably null |
Het |
Rasgrf1 |
G |
T |
9: 89,876,747 (GRCm39) |
S704I |
possibly damaging |
Het |
Rsf1 |
GGCGGCGG |
GGCGGCGGGCGCGGCGG |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
Sart1 |
C |
A |
19: 5,438,613 (GRCm39) |
G15W |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,919,242 (GRCm39) |
*1666W |
probably null |
Het |
Sfxn2 |
A |
T |
19: 46,574,179 (GRCm39) |
N123I |
probably damaging |
Het |
Slc22a3 |
A |
G |
17: 12,677,383 (GRCm39) |
W262R |
probably damaging |
Het |
Slc38a10 |
A |
G |
11: 119,995,905 (GRCm39) |
L1064P |
probably damaging |
Het |
Sorcs2 |
A |
T |
5: 36,181,416 (GRCm39) |
S1077R |
possibly damaging |
Het |
Them7 |
G |
T |
2: 105,128,171 (GRCm39) |
E51* |
probably null |
Het |
Ubc |
A |
G |
5: 125,465,133 (GRCm39) |
S65P |
possibly damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,443 (GRCm39) |
M549K |
possibly damaging |
Het |
Vmn1r222 |
A |
G |
13: 23,416,529 (GRCm39) |
L228P |
probably damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,844,535 (GRCm39) |
T633A |
probably damaging |
Het |
Zfp382 |
T |
C |
7: 29,832,700 (GRCm39) |
V117A |
probably benign |
Het |
Zic1 |
C |
T |
9: 91,247,745 (GRCm39) |
|
probably benign |
Het |
Zmym4 |
A |
T |
4: 126,819,409 (GRCm39) |
F165I |
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 |
|
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'- TCAGAAAGATCAGAGTTTTGCAGC -3'
(R):5'- AACCAACAGCAGGTGTGGTC -3'
Sequencing Primer
(F):5'- CAGCCTGGTTGGACAGATG -3'
(R):5'- TGTGGTCAGGTCTCTAAAGCCAAG -3'
|
Posted On |
2019-11-26 |