Incidental Mutation 'R0470:Setd1a'
| ID |
41798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1a
|
| Ensembl Gene |
ENSMUSG00000042308 |
| Gene Name |
SET domain containing 1A |
| Synonyms |
KMT2F |
| MMRRC Submission |
038670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 127384229 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 |
unknown
Transcript: ENSMUST00000047075
AA Change: R360H
|
| SMART Domains |
Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: R360H
| 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 |
unknown
Transcript: ENSMUST00000047157
AA Change: R360H
|
| SMART Domains |
Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: R360H
| 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 |
noncoding transcript
Transcript: ENSMUST00000141439
|
| 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
|
| Meta Mutation Damage Score |
0.0724 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
G |
19: 8,986,331 (GRCm39) |
D2538E |
probably benign |
Het |
| Akr1c13 |
T |
A |
13: 4,248,500 (GRCm39) |
L235H |
probably damaging |
Het |
| Ank |
G |
A |
15: 27,571,721 (GRCm39) |
C331Y |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,293,129 (GRCm39) |
E768G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,372,266 (GRCm39) |
V2172E |
probably damaging |
Het |
| Atp10b |
T |
A |
11: 43,093,866 (GRCm39) |
L470Q |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Ccn4 |
A |
G |
15: 66,789,227 (GRCm39) |
I238V |
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,811,290 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,749,517 (GRCm39) |
V155E |
probably damaging |
Het |
| Chp1 |
C |
T |
2: 119,391,244 (GRCm39) |
R34C |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,338,055 (GRCm39) |
V192E |
possibly damaging |
Het |
| Cyth1 |
T |
C |
11: 118,023,074 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,514 (GRCm39) |
|
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,273,884 (GRCm39) |
T163A |
probably damaging |
Het |
| Gsdmcl1 |
C |
T |
15: 63,722,280 (GRCm39) |
|
noncoding transcript |
Het |
| Herc6 |
C |
T |
6: 57,596,437 (GRCm39) |
T459M |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,314,507 (GRCm39) |
L412P |
probably damaging |
Het |
| Il17ra |
T |
G |
6: 120,458,767 (GRCm39) |
D639E |
probably benign |
Het |
| Kcnh5 |
G |
A |
12: 75,161,188 (GRCm39) |
T240I |
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,906,475 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,370,923 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mbnl2 |
A |
T |
14: 120,642,062 (GRCm39) |
H342L |
probably damaging |
Het |
| Minar2 |
C |
T |
18: 59,208,711 (GRCm39) |
R120C |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,174,683 (GRCm39) |
V356A |
probably damaging |
Het |
| Or2a54 |
C |
G |
6: 43,093,558 (GRCm39) |
A294G |
probably null |
Het |
| Or51i1 |
A |
T |
7: 103,670,877 (GRCm39) |
I216N |
probably damaging |
Het |
| Plekha6 |
G |
A |
1: 133,200,045 (GRCm39) |
R208Q |
probably benign |
Het |
| Prkar1b |
A |
G |
5: 139,036,504 (GRCm39) |
I82T |
probably damaging |
Het |
| Prrc1 |
C |
T |
18: 57,496,469 (GRCm39) |
T140M |
probably damaging |
Het |
| Psg22 |
A |
C |
7: 18,453,589 (GRCm39) |
S95R |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,837,732 (GRCm39) |
T396A |
probably benign |
Het |
| Ptov1 |
A |
G |
7: 44,514,235 (GRCm39) |
S9P |
probably damaging |
Het |
| Scin |
A |
C |
12: 40,123,291 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,717,593 (GRCm39) |
|
probably benign |
Het |
| Sf3a2 |
G |
A |
10: 80,640,388 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,683,789 (GRCm39) |
Y341C |
possibly damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,694,197 (GRCm39) |
L7Q |
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,152,086 (GRCm39) |
M130V |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,785,956 (GRCm39) |
|
probably null |
Het |
| Tex24 |
C |
T |
8: 27,834,936 (GRCm39) |
R155* |
probably null |
Het |
| Tgfb1 |
T |
A |
7: 25,387,355 (GRCm39) |
|
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,239,154 (GRCm39) |
D349G |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,297,512 (GRCm39) |
V131I |
possibly damaging |
Het |
| Trim66 |
A |
G |
7: 109,056,749 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
T |
C |
11: 87,666,988 (GRCm39) |
S1027P |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,386,001 (GRCm39) |
H2143Y |
possibly damaging |
Het |
| Vmn1r179 |
A |
C |
7: 23,627,818 (GRCm39) |
Y3S |
probably benign |
Het |
| Vmn1r231 |
G |
A |
17: 21,110,265 (GRCm39) |
Q217* |
probably null |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,066 (GRCm39) |
L249* |
probably null |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,773,148 (GRCm39) |
Q491R |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,605,391 (GRCm39) |
V925M |
possibly damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,505 (GRCm39) |
L141W |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,584,500 (GRCm39) |
L615F |
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 |
|
|
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 |
|
|
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'- TGGTCACATAGGTAGGAGCCTAGC -3'
(R):5'- AGCAAAGGGCACACTCTCGTTG -3'
Sequencing Primer
(F):5'- CATAGGTAGGAGCCTAGCTAACTC -3'
(R):5'- caccaccaccaccactac -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation