Incidental Mutation 'RF011:Setd1a'
ID |
603207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd1a
|
Ensembl Gene |
ENSMUSG00000042308 |
Gene Name |
SET domain containing 1A |
Synonyms |
KMT2F |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF011 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TGGTGGTGG to TGGTGGTGGGGGTGGTGG
at 127384515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000126761]
[ENSMUST00000144406]
[ENSMUST00000154987]
|
AlphaFold |
E9PYH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047075
|
SMART Domains |
Protein: ENSMUSP00000047672 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
Blast:SET
|
488 |
976 |
N/A |
BLAST |
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047157
|
SMART Domains |
Protein: ENSMUSP00000037600 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
Blast:SET
|
488 |
976 |
N/A |
BLAST |
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126761
|
SMART Domains |
Protein: ENSMUSP00000120666 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144406
|
SMART Domains |
Protein: ENSMUSP00000115248 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.5%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016] PHENOTYPE: Animals homozygous for this allele were dead by E7.5 [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 |
A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGCTG |
TGCTGTGGCGGCTG |
1: 82,891,307 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GCG |
GCGTCG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
Aqp2 |
T |
C |
15: 99,481,753 (GRCm39) |
S216P |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,721,009 (GRCm39) |
K672R |
possibly damaging |
Het |
Cacna1f |
GGA |
GGAAGA |
X: 7,486,295 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
CCA |
CCAGCA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
Cela2a |
T |
C |
4: 141,549,026 (GRCm39) |
N117D |
probably benign |
Het |
Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
A |
T |
7: 107,350,375 (GRCm39) |
S235R |
probably benign |
Het |
Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
TT |
TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT |
9: 20,821,440 (GRCm39) |
|
probably null |
Het |
E4f1 |
CCG |
CCGTCG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
Fam171b |
TCCAGCA |
TCCAGCACCAGCA |
2: 83,643,217 (GRCm39) |
|
probably benign |
Het |
Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
Fkbp1a |
GCCGCCGCCA |
G |
2: 151,384,619 (GRCm39) |
|
probably null |
Het |
Flii |
G |
A |
11: 60,607,069 (GRCm39) |
A969V |
probably benign |
Het |
Fscb |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG |
12: 64,519,768 (GRCm39) |
|
probably benign |
Het |
Gas1 |
G |
GAAA |
13: 60,324,345 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,767,220 (GRCm39) |
D115G |
probably null |
Het |
Guca2b |
G |
T |
4: 119,514,044 (GRCm39) |
T89N |
possibly damaging |
Het |
Hcn4 |
T |
A |
9: 58,767,198 (GRCm39) |
S920T |
unknown |
Het |
Heatr1 |
A |
G |
13: 12,422,425 (GRCm39) |
M484V |
probably benign |
Het |
Iba57 |
G |
T |
11: 59,054,438 (GRCm39) |
A27E |
probably benign |
Het |
Ifi207 |
G |
C |
1: 173,556,687 (GRCm39) |
L684V |
not run |
Het |
Ints13 |
T |
C |
6: 146,457,738 (GRCm39) |
H380R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,055,978 (GRCm39) |
T466I |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Kif12 |
C |
CCTCCACCCGGCGGGG |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,543,457 (GRCm39) |
D1399E |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,367,648 (GRCm39) |
L2371Q |
probably damaging |
Het |
Mbd1 |
GTCTTCGTCTGCATCTGCATCTGCATCT |
GTCT |
18: 74,406,681 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,401 (GRCm39) |
|
probably benign |
Het |
Mgam |
C |
A |
6: 40,734,370 (GRCm39) |
Q1472K |
probably damaging |
Het |
Mup21 |
TATACTT |
TATACTTTTTAGATACTT |
4: 62,067,582 (GRCm39) |
|
probably benign |
Het |
Nalf2 |
CGCCGC |
CGCCGCAGCCGC |
X: 98,864,967 (GRCm39) |
|
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,824,156 (GRCm39) |
N167D |
probably damaging |
Het |
Or4d10c |
C |
T |
19: 12,065,611 (GRCm39) |
V182I |
probably benign |
Het |
Or5be3 |
T |
A |
2: 86,864,385 (GRCm39) |
Y60F |
probably damaging |
Het |
Osbpl3 |
CCTGCA |
C |
6: 50,325,118 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCCCCC |
CCCCCCCCCCCCCCCC |
2: 156,146,540 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCCCC |
CCCCCCCCCCCCCCC |
2: 156,146,541 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
CCAGCCGCAGC |
CCAGC |
5: 28,599,179 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,281,878 (GRCm39) |
F445S |
probably damaging |
Het |
S100a10 |
TTTTTTTA |
T |
3: 93,471,541 (GRCm39) |
|
probably benign |
Het |
Sbp |
AA |
AAAATGCTGACAACGGA |
17: 24,164,328 (GRCm39) |
|
probably benign |
Het |
Sec14l3 |
A |
C |
11: 4,017,963 (GRCm39) |
Q81P |
possibly damaging |
Het |
Six3 |
CGG |
CGGGGG |
17: 85,928,796 (GRCm39) |
|
probably benign |
Het |
Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
Tox2 |
A |
G |
2: 163,067,484 (GRCm39) |
I68V |
probably benign |
Het |
Triml2 |
G |
T |
8: 43,636,201 (GRCm39) |
|
probably benign |
Het |
Tspan33 |
A |
G |
6: 29,716,729 (GRCm39) |
Y162C |
probably damaging |
Het |
Zfp384 |
GGCCCAGGCCCA |
GGCCCAGGCCCAAGCCCAGGCCCA |
6: 125,013,439 (GRCm39) |
|
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,574 (GRCm39) |
Y589H |
probably damaging |
Het |
Zic1 |
T |
C |
9: 91,246,383 (GRCm39) |
I230V |
probably benign |
Het |
|
Other mutations in Setd1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02508:Setd1a
|
APN |
7 |
127,396,870 (GRCm39) |
unclassified |
probably benign |
|
IGL02657:Setd1a
|
APN |
7 |
127,394,997 (GRCm39) |
unclassified |
probably benign |
|
IGL02792:Setd1a
|
APN |
7 |
127,390,522 (GRCm39) |
missense |
unknown |
|
IGL02876:Setd1a
|
APN |
7 |
127,377,673 (GRCm39) |
splice site |
probably benign |
|
IGL02967:Setd1a
|
APN |
7 |
127,384,349 (GRCm39) |
unclassified |
probably benign |
|
IGL03090:Setd1a
|
APN |
7 |
127,385,672 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03238:Setd1a
|
APN |
7 |
127,384,718 (GRCm39) |
missense |
possibly damaging |
0.86 |
FR4449:Setd1a
|
UTSW |
7 |
127,384,498 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Setd1a
|
UTSW |
7 |
127,384,485 (GRCm39) |
unclassified |
probably benign |
|
FR4548:Setd1a
|
UTSW |
7 |
127,384,479 (GRCm39) |
unclassified |
probably benign |
|
FR4589:Setd1a
|
UTSW |
7 |
127,384,469 (GRCm39) |
unclassified |
probably benign |
|
FR4737:Setd1a
|
UTSW |
7 |
127,384,484 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Setd1a
|
UTSW |
7 |
127,384,488 (GRCm39) |
unclassified |
probably benign |
|
FR4976:Setd1a
|
UTSW |
7 |
127,384,479 (GRCm39) |
unclassified |
probably benign |
|
R0367:Setd1a
|
UTSW |
7 |
127,387,358 (GRCm39) |
splice site |
probably benign |
|
R0411:Setd1a
|
UTSW |
7 |
127,395,223 (GRCm39) |
unclassified |
probably benign |
|
R0416:Setd1a
|
UTSW |
7 |
127,384,469 (GRCm39) |
unclassified |
probably benign |
|
R0470:Setd1a
|
UTSW |
7 |
127,384,229 (GRCm39) |
unclassified |
probably benign |
|
R0645:Setd1a
|
UTSW |
7 |
127,386,382 (GRCm39) |
missense |
probably damaging |
0.96 |
R0667:Setd1a
|
UTSW |
7 |
127,385,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R1251:Setd1a
|
UTSW |
7 |
127,396,596 (GRCm39) |
unclassified |
probably benign |
|
R1465:Setd1a
|
UTSW |
7 |
127,387,512 (GRCm39) |
unclassified |
probably benign |
|
R1465:Setd1a
|
UTSW |
7 |
127,387,512 (GRCm39) |
unclassified |
probably benign |
|
R1660:Setd1a
|
UTSW |
7 |
127,395,841 (GRCm39) |
unclassified |
probably benign |
|
R1730:Setd1a
|
UTSW |
7 |
127,384,296 (GRCm39) |
nonsense |
probably null |
|
R1760:Setd1a
|
UTSW |
7 |
127,385,062 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1783:Setd1a
|
UTSW |
7 |
127,384,296 (GRCm39) |
nonsense |
probably null |
|
R2149:Setd1a
|
UTSW |
7 |
127,385,690 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2159:Setd1a
|
UTSW |
7 |
127,384,661 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2303:Setd1a
|
UTSW |
7 |
127,398,327 (GRCm39) |
unclassified |
probably benign |
|
R2679:Setd1a
|
UTSW |
7 |
127,394,896 (GRCm39) |
unclassified |
probably benign |
|
R3428:Setd1a
|
UTSW |
7 |
127,384,493 (GRCm39) |
unclassified |
probably benign |
|
R4108:Setd1a
|
UTSW |
7 |
127,398,374 (GRCm39) |
unclassified |
probably benign |
|
R4227:Setd1a
|
UTSW |
7 |
127,395,819 (GRCm39) |
unclassified |
probably benign |
|
R4438:Setd1a
|
UTSW |
7 |
127,384,903 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4730:Setd1a
|
UTSW |
7 |
127,396,502 (GRCm39) |
unclassified |
probably benign |
|
R4869:Setd1a
|
UTSW |
7 |
127,396,776 (GRCm39) |
unclassified |
probably benign |
|
R4892:Setd1a
|
UTSW |
7 |
127,377,696 (GRCm39) |
missense |
probably damaging |
0.99 |
R5152:Setd1a
|
UTSW |
7 |
127,383,197 (GRCm39) |
missense |
probably benign |
|
R5502:Setd1a
|
UTSW |
7 |
127,396,420 (GRCm39) |
critical splice donor site |
probably null |
|
R5527:Setd1a
|
UTSW |
7 |
127,384,801 (GRCm39) |
missense |
probably damaging |
0.99 |
R6189:Setd1a
|
UTSW |
7 |
127,377,455 (GRCm39) |
splice site |
probably null |
|
R6250:Setd1a
|
UTSW |
7 |
127,390,471 (GRCm39) |
missense |
unknown |
|
R7131:Setd1a
|
UTSW |
7 |
127,395,590 (GRCm39) |
small deletion |
probably benign |
|
R7988:Setd1a
|
UTSW |
7 |
127,385,366 (GRCm39) |
missense |
probably benign |
0.02 |
R8029:Setd1a
|
UTSW |
7 |
127,385,386 (GRCm39) |
missense |
probably benign |
0.08 |
R8079:Setd1a
|
UTSW |
7 |
127,384,225 (GRCm39) |
missense |
unknown |
|
R8171:Setd1a
|
UTSW |
7 |
127,390,399 (GRCm39) |
missense |
unknown |
|
R8175:Setd1a
|
UTSW |
7 |
127,395,415 (GRCm39) |
missense |
unknown |
|
R8286:Setd1a
|
UTSW |
7 |
127,385,356 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8327:Setd1a
|
UTSW |
7 |
127,390,669 (GRCm39) |
missense |
unknown |
|
R8460:Setd1a
|
UTSW |
7 |
127,383,292 (GRCm39) |
missense |
unknown |
|
R8547:Setd1a
|
UTSW |
7 |
127,395,676 (GRCm39) |
unclassified |
probably benign |
|
R8699:Setd1a
|
UTSW |
7 |
127,385,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8822:Setd1a
|
UTSW |
7 |
127,385,332 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8968:Setd1a
|
UTSW |
7 |
127,385,279 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9063:Setd1a
|
UTSW |
7 |
127,385,558 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9178:Setd1a
|
UTSW |
7 |
127,385,590 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9672:Setd1a
|
UTSW |
7 |
127,385,237 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9700:Setd1a
|
UTSW |
7 |
127,385,752 (GRCm39) |
missense |
possibly damaging |
0.53 |
RF001:Setd1a
|
UTSW |
7 |
127,384,486 (GRCm39) |
unclassified |
probably benign |
|
RF008:Setd1a
|
UTSW |
7 |
127,384,486 (GRCm39) |
unclassified |
probably benign |
|
RF014:Setd1a
|
UTSW |
7 |
127,384,518 (GRCm39) |
unclassified |
probably benign |
|
RF030:Setd1a
|
UTSW |
7 |
127,384,483 (GRCm39) |
unclassified |
probably benign |
|
RF030:Setd1a
|
UTSW |
7 |
127,384,473 (GRCm39) |
unclassified |
probably benign |
|
RF031:Setd1a
|
UTSW |
7 |
127,384,483 (GRCm39) |
unclassified |
probably benign |
|
RF036:Setd1a
|
UTSW |
7 |
127,384,472 (GRCm39) |
unclassified |
probably benign |
|
RF041:Setd1a
|
UTSW |
7 |
127,384,504 (GRCm39) |
unclassified |
probably benign |
|
RF052:Setd1a
|
UTSW |
7 |
127,384,529 (GRCm39) |
unclassified |
probably benign |
|
RF055:Setd1a
|
UTSW |
7 |
127,384,471 (GRCm39) |
unclassified |
probably benign |
|
RF056:Setd1a
|
UTSW |
7 |
127,384,500 (GRCm39) |
unclassified |
probably benign |
|
RF056:Setd1a
|
UTSW |
7 |
127,384,475 (GRCm39) |
unclassified |
probably benign |
|
RF058:Setd1a
|
UTSW |
7 |
127,384,490 (GRCm39) |
unclassified |
probably benign |
|
Z1176:Setd1a
|
UTSW |
7 |
127,398,266 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTACCAGCGCCATACTTCC -3'
(R):5'- GAGCGTTGTTCCTTCAGCAG -3'
Sequencing Primer
(F):5'- GCAACTAGAGAGGACCCTTCTG -3'
(R):5'- CTTCAGCAGCATTTCAATACGGG -3'
|
Posted On |
2019-12-04 |