Incidental Mutation 'R8029:Setd1a'
ID |
617827 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd1a
|
Ensembl Gene |
ENSMUSG00000042308 |
Gene Name |
SET domain containing 1A |
Synonyms |
KMT2F |
MMRRC Submission |
067468-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8029 (G1)
|
Quality Score |
209.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 127385386 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Glutamic Acid
at position 698
(Q698E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000126761]
[ENSMUST00000144406]
[ENSMUST00000154987]
|
AlphaFold |
E9PYH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047075
AA Change: Q698E
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000047672 Gene: ENSMUSG00000042308 AA Change: Q698E
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
AA Change: Q698E
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000037600 Gene: ENSMUSG00000042308 AA Change: Q698E
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
AA Change: Q155E
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
A |
G |
2: 58,186,129 (GRCm39) |
I118T |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,522,934 (GRCm39) |
D36G |
possibly damaging |
Het |
Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
Arhgef1 |
T |
C |
7: 24,619,163 (GRCm39) |
L468P |
probably damaging |
Het |
Armc2 |
A |
T |
10: 41,802,996 (GRCm39) |
L559Q |
probably damaging |
Het |
Asb3 |
A |
T |
11: 31,051,180 (GRCm39) |
R506* |
probably null |
Het |
Aspm |
A |
G |
1: 139,399,370 (GRCm39) |
H1045R |
probably benign |
Het |
Cacna1g |
G |
T |
11: 94,300,564 (GRCm39) |
R2099S |
probably benign |
Het |
Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
Cd34 |
A |
C |
1: 194,640,860 (GRCm39) |
M242L |
probably benign |
Het |
Cdh24 |
T |
A |
14: 54,876,856 (GRCm39) |
N49I |
probably damaging |
Het |
Ces2b |
A |
G |
8: 105,561,482 (GRCm39) |
N192S |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,312,519 (GRCm39) |
I331V |
possibly damaging |
Het |
Disp1 |
A |
G |
1: 182,870,852 (GRCm39) |
S523P |
probably damaging |
Het |
Dlgap5 |
T |
C |
14: 47,653,897 (GRCm39) |
H44R |
probably benign |
Het |
Dnajc30 |
G |
T |
5: 135,093,186 (GRCm39) |
A28S |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Exd1 |
A |
T |
2: 119,359,204 (GRCm39) |
H226Q |
probably damaging |
Het |
Gata6 |
T |
A |
18: 11,054,944 (GRCm39) |
V291E |
possibly damaging |
Het |
Get3 |
T |
C |
8: 85,746,456 (GRCm39) |
M131V |
probably benign |
Het |
Gfi1b |
A |
T |
2: 28,503,687 (GRCm39) |
|
probably null |
Het |
Grk3 |
T |
A |
5: 113,109,508 (GRCm39) |
I150L |
probably benign |
Het |
Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
Idua |
T |
C |
5: 108,817,278 (GRCm39) |
F17S |
probably benign |
Het |
Ighg1 |
T |
C |
12: 113,292,765 (GRCm39) |
K268R |
|
Het |
Lama1 |
G |
T |
17: 68,124,589 (GRCm39) |
R2883M |
|
Het |
Lpar3 |
T |
C |
3: 145,946,718 (GRCm39) |
M132T |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,338,685 (GRCm39) |
T4351A |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,496,148 (GRCm39) |
|
probably null |
Het |
Mbtps1 |
C |
A |
8: 120,274,544 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
T |
C |
13: 77,178,005 (GRCm39) |
Y931H |
probably damaging |
Het |
Mug2 |
A |
G |
6: 122,058,504 (GRCm39) |
|
probably null |
Het |
Myh1 |
G |
T |
11: 67,102,066 (GRCm39) |
|
probably null |
Het |
Mylk2 |
T |
C |
2: 152,762,219 (GRCm39) |
S497P |
probably damaging |
Het |
Nectin4 |
A |
G |
1: 171,214,255 (GRCm39) |
D470G |
probably benign |
Het |
Nop2 |
C |
T |
6: 125,121,383 (GRCm39) |
P722S |
possibly damaging |
Het |
Nphp1 |
T |
C |
2: 127,583,036 (GRCm39) |
T626A |
probably benign |
Het |
Nudt9 |
C |
T |
5: 104,198,477 (GRCm39) |
|
probably benign |
Het |
Oplah |
T |
C |
15: 76,189,896 (GRCm39) |
Y143C |
probably benign |
Het |
Or10a3m |
T |
A |
7: 108,313,037 (GRCm39) |
F159Y |
possibly damaging |
Het |
Or12e10 |
A |
G |
2: 87,640,376 (GRCm39) |
T71A |
probably benign |
Het |
Or7e178 |
A |
G |
9: 20,225,643 (GRCm39) |
F191S |
possibly damaging |
Het |
Or7g20 |
T |
C |
9: 18,947,090 (GRCm39) |
S224P |
probably damaging |
Het |
Osbpl1a |
T |
G |
18: 13,047,578 (GRCm39) |
E125D |
probably benign |
Het |
P2ry1 |
C |
A |
3: 60,910,943 (GRCm39) |
N27K |
possibly damaging |
Het |
Palld |
A |
T |
8: 62,330,346 (GRCm39) |
I177N |
probably damaging |
Het |
Plcl1 |
A |
T |
1: 55,735,237 (GRCm39) |
I193L |
probably benign |
Het |
Polr1a |
T |
A |
6: 71,889,940 (GRCm39) |
L53* |
probably null |
Het |
Ppp1r9a |
A |
G |
6: 5,057,518 (GRCm39) |
E531G |
possibly damaging |
Het |
Prex1 |
C |
A |
2: 166,417,523 (GRCm39) |
Q1361H |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,006,197 (GRCm39) |
E795G |
probably damaging |
Het |
Rars1 |
C |
T |
11: 35,711,992 (GRCm39) |
V295I |
probably damaging |
Het |
Rnaseh2b |
T |
C |
14: 62,590,997 (GRCm39) |
V116A |
possibly damaging |
Het |
Rnf43 |
T |
A |
11: 87,622,720 (GRCm39) |
L480H |
probably benign |
Het |
Rttn |
A |
G |
18: 89,108,598 (GRCm39) |
T1601A |
not run |
Het |
Sh3gl3 |
T |
C |
7: 81,920,091 (GRCm39) |
Y100H |
probably benign |
Het |
Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
Snx13 |
A |
C |
12: 35,169,885 (GRCm39) |
H610P |
probably damaging |
Het |
Spata31d1e |
T |
C |
13: 59,890,191 (GRCm39) |
H543R |
possibly damaging |
Het |
Spdl1 |
T |
C |
11: 34,713,419 (GRCm39) |
R217G |
probably benign |
Het |
Spop |
G |
A |
11: 95,365,193 (GRCm39) |
E113K |
probably benign |
Het |
Sult2a3 |
G |
A |
7: 13,855,553 (GRCm39) |
P101L |
probably damaging |
Het |
Tbl1xr1 |
C |
T |
3: 22,254,600 (GRCm39) |
H348Y |
probably damaging |
Het |
Tmie |
T |
C |
9: 110,696,555 (GRCm39) |
T109A |
possibly damaging |
Het |
Ttc12 |
A |
G |
9: 49,381,551 (GRCm39) |
V140A |
possibly damaging |
Het |
Ube2m |
A |
G |
7: 12,770,524 (GRCm39) |
L58P |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,576,040 (GRCm39) |
S839P |
possibly damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,696,744 (GRCm39) |
D221V |
probably benign |
Het |
Vps41 |
C |
T |
13: 19,007,955 (GRCm39) |
Q263* |
probably null |
Het |
Zfand3 |
A |
T |
17: 30,354,407 (GRCm39) |
T75S |
probably benign |
Het |
Zscan26 |
A |
G |
13: 21,629,520 (GRCm39) |
C202R |
probably damaging |
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 |
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 |
|
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'- ATGGAGATCTCTGATGATGACAG -3'
(R):5'- TCTTGCCCTTGTGTGTACAG -3'
Sequencing Primer
(F):5'- TGATGACAGGGGTGGCTCAC -3'
(R):5'- CCCTTGTGTGTACAGAGCATAG -3'
|
Posted On |
2020-01-23 |