Incidental Mutation 'R9672:Setd1a'
| ID |
728089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1a
|
| Ensembl Gene |
ENSMUSG00000042308 |
| Gene Name |
SET domain containing 1A |
| Synonyms |
KMT2F |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9672 (G1)
|
| Quality Score |
131.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127385237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 648
(L648P)
|
| 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: L648P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: L648P
| 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: L648P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: L648P
| 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: L105P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,838,563 (GRCm39) |
K612N |
probably null |
Het |
| Atrnl1 |
G |
A |
19: 57,618,695 (GRCm39) |
A138T |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,794,666 (GRCm39) |
T164A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,671,016 (GRCm39) |
S497P |
unknown |
Het |
| Cd209d |
C |
G |
8: 3,922,036 (GRCm39) |
G212A |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,780,658 (GRCm39) |
I200T |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,919,847 (GRCm39) |
I90F |
possibly damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,316,576 (GRCm39) |
C401S |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,422 (GRCm39) |
N209K |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dcaf11 |
T |
A |
14: 55,806,484 (GRCm39) |
Y468* |
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,800,640 (GRCm39) |
D926G |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,606 (GRCm39) |
L135P |
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,178 (GRCm39) |
C564* |
probably null |
Het |
| Gabrb2 |
G |
A |
11: 42,312,207 (GRCm39) |
G11R |
probably benign |
Het |
| Gas6 |
A |
G |
8: 13,528,273 (GRCm39) |
S187P |
probably benign |
Het |
| Gemin5 |
C |
T |
11: 58,058,585 (GRCm39) |
V93I |
probably benign |
Het |
| Gldn |
A |
T |
9: 54,245,780 (GRCm39) |
I444F |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,516 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ice2 |
G |
A |
9: 69,322,899 (GRCm39) |
A465T |
probably benign |
Het |
| Irf9 |
T |
C |
14: 55,842,129 (GRCm39) |
S2P |
probably benign |
Het |
| Kpna7 |
C |
T |
5: 144,944,776 (GRCm39) |
M21I |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,023,213 (GRCm39) |
M189T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,779,291 (GRCm39) |
T2698A |
|
Het |
| Med10 |
A |
G |
13: 69,963,711 (GRCm39) |
K104R |
probably benign |
Het |
| Mfsd14b |
A |
G |
13: 65,260,320 (GRCm39) |
W38R |
probably benign |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,490 (GRCm39) |
F256S |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,332 (GRCm39) |
K146E |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,454 (GRCm39) |
Y251F |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,184,133 (GRCm39) |
|
probably null |
Het |
| Pde8a |
A |
G |
7: 80,942,014 (GRCm39) |
N151S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,100,824 (GRCm39) |
F176L |
possibly damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,187,541 (GRCm39) |
D115E |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,007,889 (GRCm39) |
C532R |
unknown |
Het |
| Rasa2 |
A |
G |
9: 96,427,781 (GRCm39) |
W695R |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,538,118 (GRCm39) |
N3S |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,842 (GRCm39) |
Y491C |
probably damaging |
Het |
| Scel |
T |
A |
14: 103,836,838 (GRCm39) |
N495K |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,478,515 (GRCm39) |
R333S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,077,344 (GRCm39) |
Y48C |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,856,749 (GRCm39) |
N230K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,603,613 (GRCm39) |
Q589R |
possibly damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,549 (GRCm39) |
L155H |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,442 (GRCm39) |
N277D |
probably benign |
Het |
| Wdr97 |
T |
A |
15: 76,240,377 (GRCm39) |
V355E |
|
Het |
| Yy1 |
C |
A |
12: 108,759,584 (GRCm39) |
H82Q |
unknown |
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 |
|
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'- AACTCAGGGAGCTCTAGCAG -3'
(R):5'- CCGTGTTAACATCTGGGTCTG -3'
Sequencing Primer
(F):5'- CAGGAGCTGTCTGTGACTCTC -3'
(R):5'- AACATCTGGGTCTGCATCTGGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation