Incidental Mutation 'R0667:Setd1a'
| ID |
62062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1a
|
| Ensembl Gene |
ENSMUSG00000042308 |
| Gene Name |
SET domain containing 1A |
| Synonyms |
KMT2F |
| MMRRC Submission |
038852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0667 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127385765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 281
(D281G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000126761]
[ENSMUST00000144406]
[ENSMUST00000154987]
|
| AlphaFold |
E9PYH6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047075
AA Change: D824G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047672
Gene: ENSMUSG00000042308
AA Change: D824G
| 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: D824G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037600
Gene: ENSMUSG00000042308
AA Change: D824G
| 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 damaging
Transcript: ENSMUST00000154987
AA Change: D281G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7448 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,052,425 (GRCm39) |
S234P |
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
| Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
| Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
| Mep1a |
T |
G |
17: 43,789,081 (GRCm39) |
D565A |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,252,369 (GRCm39) |
T409I |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,081,794 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
| Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
| Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
| Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
| Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
| Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
| Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
| Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
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 |
|
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'- CTTTTCCACCTCCACAAGAGGCAG -3'
(R):5'- TGTCCCTACTTTGAATTGGGCAACC -3'
Sequencing Primer
(F):5'- AGAGGCAGCCTATGGCTTG -3'
(R):5'- CTCTTTCAGcaaacaaacaaacaaac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation