Incidental Mutation 'R9063:Setd1a'
ID |
689090 |
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 # |
R9063 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127385558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 755
(R755H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000126761]
[ENSMUST00000144406]
[ENSMUST00000154987]
|
AlphaFold |
E9PYH6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047075
AA Change: R755H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047672 Gene: ENSMUSG00000042308 AA Change: R755H
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 |
possibly damaging
Transcript: ENSMUST00000047157
AA Change: R755H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037600 Gene: ENSMUSG00000042308 AA Change: R755H
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 |
possibly damaging
Transcript: ENSMUST00000154987
AA Change: R212H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
T |
G |
7: 115,703,660 (GRCm39) |
S178A |
probably benign |
Het |
Add3 |
T |
C |
19: 53,222,302 (GRCm39) |
L303P |
probably damaging |
Het |
Agr2 |
T |
A |
12: 36,053,898 (GRCm39) |
*176K |
probably null |
Het |
Apobr |
C |
T |
7: 126,185,920 (GRCm39) |
T477I |
probably benign |
Het |
Cdca7l |
G |
A |
12: 117,838,536 (GRCm39) |
V336M |
probably damaging |
Het |
Cep63 |
T |
G |
9: 102,496,227 (GRCm39) |
H18P |
unknown |
Het |
Copa |
A |
G |
1: 171,944,529 (GRCm39) |
D838G |
probably benign |
Het |
Cspg4 |
G |
T |
9: 56,795,687 (GRCm39) |
V1141L |
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,497,002 (GRCm39) |
T146A |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,866,264 (GRCm39) |
I206L |
probably benign |
Het |
Emsy |
C |
T |
7: 98,295,684 (GRCm39) |
D73N |
probably damaging |
Het |
Esr2 |
A |
T |
12: 76,168,590 (GRCm39) |
Y540N |
probably benign |
Het |
Exoc7 |
C |
A |
11: 116,180,101 (GRCm39) |
V668L |
probably benign |
Het |
Fcgbp |
C |
T |
7: 27,791,277 (GRCm39) |
T846I |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,153,772 (GRCm39) |
E418G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,238,346 (GRCm39) |
R1467C |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,249,558 (GRCm39) |
I520T |
probably benign |
Het |
Gfod1 |
A |
G |
13: 43,354,280 (GRCm39) |
C232R |
probably benign |
Het |
Gpr61 |
T |
C |
3: 108,057,555 (GRCm39) |
R369G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,122,429 (GRCm39) |
Y423C |
probably damaging |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Jmy |
T |
C |
13: 93,635,580 (GRCm39) |
R79G |
probably benign |
Het |
Kcnn4 |
T |
A |
7: 24,076,934 (GRCm39) |
V161E |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,833,706 (GRCm39) |
I1040N |
probably damaging |
Het |
Kif2b |
A |
G |
11: 91,466,654 (GRCm39) |
L543S |
probably damaging |
Het |
Kpna2 |
A |
G |
11: 106,883,489 (GRCm39) |
I81T |
probably benign |
Het |
Krt12 |
A |
G |
11: 99,307,757 (GRCm39) |
S444P |
probably benign |
Het |
Lmnb2 |
C |
T |
10: 80,742,005 (GRCm39) |
V29M |
probably benign |
Het |
Lmod2 |
T |
C |
6: 24,603,364 (GRCm39) |
V113A |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,231,838 (GRCm39) |
T1211A |
|
Het |
Lrrc8d |
T |
C |
5: 105,961,959 (GRCm39) |
S790P |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,482,878 (GRCm39) |
V613A |
probably damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,653 (GRCm39) |
N142S |
probably benign |
Het |
Mgll |
G |
A |
6: 88,802,690 (GRCm39) |
V282I |
possibly damaging |
Het |
Mief2 |
G |
A |
11: 60,622,314 (GRCm39) |
E295K |
probably damaging |
Het |
Mmrn2 |
A |
T |
14: 34,120,567 (GRCm39) |
H479L |
probably benign |
Het |
Myh15 |
T |
A |
16: 48,913,118 (GRCm39) |
N358K |
probably benign |
Het |
Mzf1 |
T |
G |
7: 12,787,005 (GRCm39) |
K101Q |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,964,253 (GRCm39) |
L401Q |
probably damaging |
Het |
Nck2 |
T |
C |
1: 43,593,503 (GRCm39) |
C237R |
possibly damaging |
Het |
Nlrp9a |
T |
G |
7: 26,273,291 (GRCm39) |
N976K |
possibly damaging |
Het |
Nol11 |
A |
G |
11: 107,064,240 (GRCm39) |
V524A |
probably benign |
Het |
Nol11 |
T |
C |
11: 107,069,857 (GRCm39) |
Y331C |
possibly damaging |
Het |
Nsmf |
A |
T |
2: 24,952,622 (GRCm39) |
H149L |
probably benign |
Het |
Olfm3 |
T |
C |
3: 114,914,582 (GRCm39) |
V231A |
probably benign |
Het |
Or1l4b |
A |
T |
2: 37,036,646 (GRCm39) |
M141L |
probably benign |
Het |
Or51a6 |
A |
G |
7: 102,604,446 (GRCm39) |
S121P |
probably benign |
Het |
Or55b4 |
T |
C |
7: 102,133,931 (GRCm39) |
Y132C |
probably damaging |
Het |
Pcdhgb5 |
T |
A |
18: 37,864,739 (GRCm39) |
F178Y |
probably damaging |
Het |
Plk2 |
T |
A |
13: 110,532,920 (GRCm39) |
S160R |
possibly damaging |
Het |
Plk5 |
C |
G |
10: 80,193,830 (GRCm39) |
R40G |
probably damaging |
Het |
Ppp1cc |
A |
G |
5: 122,306,279 (GRCm39) |
N33D |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,218,693 (GRCm39) |
E499G |
possibly damaging |
Het |
Pwp1 |
A |
G |
10: 85,720,431 (GRCm39) |
H356R |
probably benign |
Het |
Rbsn |
G |
T |
6: 92,171,000 (GRCm39) |
T307K |
probably benign |
Het |
Rnf19a |
G |
A |
15: 36,265,615 (GRCm39) |
Q161* |
probably null |
Het |
Scin |
T |
C |
12: 40,134,336 (GRCm39) |
D236G |
possibly damaging |
Het |
Sik3 |
C |
T |
9: 46,123,735 (GRCm39) |
T1178I |
probably benign |
Het |
Slc49a3 |
A |
G |
5: 108,590,103 (GRCm39) |
L433P |
probably damaging |
Het |
Tex26 |
C |
T |
5: 149,393,826 (GRCm39) |
R272C |
probably damaging |
Het |
Trim60 |
T |
A |
8: 65,453,465 (GRCm39) |
K261N |
possibly damaging |
Het |
Tspan9 |
A |
G |
6: 127,944,072 (GRCm39) |
I76T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,588,833 (GRCm39) |
Y21412F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,710,907 (GRCm39) |
I8409N |
unknown |
Het |
Unc80 |
T |
C |
1: 66,645,816 (GRCm39) |
|
probably null |
Het |
Ush2a |
A |
T |
1: 187,995,457 (GRCm39) |
Q76L |
probably benign |
Het |
Usp1 |
G |
A |
4: 98,819,389 (GRCm39) |
V284I |
probably benign |
Het |
Usp31 |
A |
G |
7: 121,306,466 (GRCm39) |
V4A |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,648,329 (GRCm39) |
|
probably benign |
Het |
Zfp959 |
G |
A |
17: 56,204,221 (GRCm39) |
R86K |
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 |
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 |
|
RF011:Setd1a
|
UTSW |
7 |
127,384,515 (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'- ATGTCCTTCCAGATGCAGAC -3'
(R):5'- TAAGGTCTCGCTGCATAATGC -3'
Sequencing Primer
(F):5'- TGCAGACCCAGATGTTAACACGG -3'
(R):5'- TCATCTCTTGGACAAGGGTAGCC -3'
|
Posted On |
2021-11-19 |