Incidental Mutation 'RF036:Setd1a'
| ID |
604583 |
| 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 # |
RF036 (G1)
|
| Quality Score |
215.654 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG to GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG
at 127384472 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: 99.3%
- 20x: 98.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
TCCCTG |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
GGGCTGCATCCTGGGC |
4: 155,989,544 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
GGCCGC |
GGC |
5: 50,215,983 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCT |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCTGTGGG |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGTTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cherp |
ACCTGGACC |
AC |
8: 73,215,888 (GRCm39) |
|
probably null |
Het |
| Cherp |
TGGACC |
T |
8: 73,215,891 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CAGACACACTGCC |
CAGACACACTGCCTAGGGATGTGATAGACACACTGCC |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GCAGC |
GCAGCAACAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TTTT |
TTTTTCTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAATTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT |
9: 106,447,810 (GRCm39) |
|
probably benign |
Het |
| Ivl |
TGCTGCTGCTGCTGC |
T |
3: 92,479,648 (GRCm39) |
|
probably null |
Het |
| Kif12 |
C |
CCTCCACCCGGCGGGT |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,434 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GTGAG |
GTGAGTCAGGCAATGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
| Nefh |
GGGAC |
GGGACGTGGCATCACCTGTGGAC |
11: 4,891,048 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCCTC |
TGGCCTCGCCTGGGGACTGGGCCTC |
11: 4,891,036 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCA |
TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Phc1 |
CTTGCTG |
CTTGCTGTTGCTG |
6: 122,300,539 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTCTCTCTC |
TCTCTCTCTCTCTCTCACTCTCTCTC |
12: 26,364,007 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
CTCTC |
CTCTCTCTCTCTCTCTATCTC |
12: 26,364,012 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAAG |
A |
14: 52,386,998 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGATG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAT |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
| Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CT |
CTAGT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,028 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
ACTTAC |
ACTTACTCATGTGACCCGTTCTTCCCTTAC |
9: 44,000,421 (GRCm39) |
|
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 |
|
|
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 |
|
|
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'- TGAAAGCTGGAATCGTTACCAGC -3'
(R):5'- GGGAATCCAAACTGCTGTGC -3'
Sequencing Primer
(F):5'- GAATCGTTACCAGCGCCATACTTC -3'
(R):5'- GAATCCAAACTGCTGTGCTGAGC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation