Incidental Mutation 'IGL02657:Setd1a'
ID |
302387 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Setd1a
|
Ensembl Gene |
ENSMUSG00000042308 |
Gene Name |
SET domain containing 1A |
Synonyms |
KMT2F |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02657
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127376561-127399294 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 127394997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106272]
[ENSMUST00000125188]
[ENSMUST00000154987]
[ENSMUST00000155005]
[ENSMUST00000206674]
[ENSMUST00000139068]
|
AlphaFold |
E9PYH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046863
|
SMART Domains |
Protein: ENSMUSP00000036245 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:KR
|
11 |
147 |
3e-10 |
PFAM |
Pfam:RmlD_sub_bind
|
11 |
198 |
8.1e-10 |
PFAM |
Pfam:Polysacc_synt_2
|
12 |
140 |
4.6e-13 |
PFAM |
Pfam:NmrA
|
12 |
142 |
1.9e-9 |
PFAM |
Pfam:Epimerase
|
12 |
215 |
3.2e-25 |
PFAM |
Pfam:GDP_Man_Dehyd
|
13 |
185 |
8.1e-17 |
PFAM |
Pfam:3Beta_HSD
|
13 |
290 |
5.4e-99 |
PFAM |
Pfam:NAD_binding_4
|
14 |
240 |
1.4e-15 |
PFAM |
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000047075
AA Change: P1188S
|
SMART Domains |
Protein: ENSMUSP00000047672 Gene: ENSMUSG00000042308 AA Change: P1188S
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: P1188S
|
SMART Domains |
Protein: ENSMUSP00000037600 Gene: ENSMUSG00000042308 AA Change: P1188S
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: ENSMUST00000106272
|
SMART Domains |
Protein: ENSMUSP00000101879 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
10 |
143 |
3.7e-13 |
PFAM |
Pfam:RmlD_sub_bind
|
10 |
180 |
2.8e-9 |
PFAM |
Pfam:KR
|
11 |
139 |
1.6e-9 |
PFAM |
Pfam:Polysacc_synt_2
|
12 |
140 |
7.7e-13 |
PFAM |
Pfam:NmrA
|
12 |
141 |
7.3e-9 |
PFAM |
Pfam:Epimerase
|
12 |
215 |
7.1e-26 |
PFAM |
Pfam:NAD_binding_10
|
13 |
179 |
1.1e-10 |
PFAM |
Pfam:3Beta_HSD
|
13 |
188 |
6.1e-70 |
PFAM |
Pfam:NAD_binding_4
|
14 |
187 |
1.5e-17 |
PFAM |
Pfam:3Beta_HSD
|
177 |
261 |
4e-23 |
PFAM |
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154987
AA Change: P645S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144748
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139068
|
SMART Domains |
Protein: ENSMUSP00000121246 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:3Beta_HSD
|
13 |
55 |
2.7e-13 |
PFAM |
Pfam:3Beta_HSD
|
53 |
100 |
3.2e-19 |
PFAM |
|
Coding Region Coverage |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
G |
A |
11: 117,725,648 (GRCm39) |
V120M |
possibly damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,567,776 (GRCm39) |
L680P |
probably damaging |
Het |
Alox12 |
A |
T |
11: 70,138,104 (GRCm39) |
D410E |
probably benign |
Het |
Amt |
T |
A |
9: 108,178,579 (GRCm39) |
V365E |
probably damaging |
Het |
Ano9 |
A |
G |
7: 140,687,353 (GRCm39) |
S321P |
probably damaging |
Het |
Atp2c2 |
A |
T |
8: 120,479,771 (GRCm39) |
I767F |
probably damaging |
Het |
Bag1 |
A |
T |
4: 40,936,643 (GRCm39) |
Y338N |
probably benign |
Het |
Bcr |
T |
A |
10: 74,990,796 (GRCm39) |
D767E |
probably benign |
Het |
Chfr |
A |
T |
5: 110,302,705 (GRCm39) |
Q350L |
probably damaging |
Het |
Cops3 |
A |
T |
11: 59,721,043 (GRCm39) |
L124H |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,437,149 (GRCm39) |
Y988H |
probably benign |
Het |
Dnajc2 |
A |
T |
5: 21,975,479 (GRCm39) |
|
probably benign |
Het |
Dym |
C |
T |
18: 75,215,527 (GRCm39) |
Q238* |
probably null |
Het |
Fbn1 |
A |
T |
2: 125,193,945 (GRCm39) |
C1341S |
possibly damaging |
Het |
Fryl |
G |
T |
5: 73,212,203 (GRCm39) |
N2308K |
probably benign |
Het |
Gbp2b |
G |
T |
3: 142,309,873 (GRCm39) |
R221L |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,269,251 (GRCm39) |
N8S |
probably benign |
Het |
Gvin2 |
T |
C |
7: 105,545,972 (GRCm39) |
K2360R |
probably damaging |
Het |
Hycc2 |
A |
T |
1: 58,574,561 (GRCm39) |
W327R |
probably damaging |
Het |
Ift52 |
A |
G |
2: 162,887,135 (GRCm39) |
D379G |
probably damaging |
Het |
Inhbe |
C |
A |
10: 127,186,645 (GRCm39) |
L178F |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,181,212 (GRCm39) |
Y913H |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,099,968 (GRCm39) |
D1507E |
possibly damaging |
Het |
Lnx2 |
A |
G |
5: 146,964,984 (GRCm39) |
V413A |
probably damaging |
Het |
Lrrc40 |
C |
A |
3: 157,742,410 (GRCm39) |
F16L |
probably damaging |
Het |
Magi2 |
A |
G |
5: 19,432,581 (GRCm39) |
K99E |
probably damaging |
Het |
Me3 |
A |
G |
7: 89,495,461 (GRCm39) |
I357M |
probably benign |
Het |
Med30 |
A |
G |
15: 52,582,761 (GRCm39) |
Y66C |
probably benign |
Het |
Mief2 |
A |
T |
11: 60,621,783 (GRCm39) |
S118C |
probably damaging |
Het |
Mylip |
A |
G |
13: 45,544,722 (GRCm39) |
S49G |
probably benign |
Het |
Ncoa7 |
T |
A |
10: 30,528,972 (GRCm39) |
D107V |
probably damaging |
Het |
Nvl |
C |
A |
1: 180,934,541 (GRCm39) |
V655F |
probably damaging |
Het |
Olfml2b |
C |
T |
1: 170,508,645 (GRCm39) |
T501I |
probably benign |
Het |
Ormdl2 |
T |
C |
10: 128,656,186 (GRCm39) |
I40V |
probably benign |
Het |
Pde6b |
G |
T |
5: 108,568,142 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
C |
12: 55,720,292 (GRCm39) |
L1785W |
probably damaging |
Het |
Rnf112 |
A |
T |
11: 61,341,078 (GRCm39) |
|
probably null |
Het |
Sema3c |
A |
T |
5: 17,781,866 (GRCm39) |
M1L |
possibly damaging |
Het |
Sema3c |
T |
A |
5: 17,867,972 (GRCm39) |
Y128N |
probably damaging |
Het |
Sema4b |
G |
A |
7: 79,866,789 (GRCm39) |
G255D |
probably damaging |
Het |
Sirpb1a |
A |
C |
3: 15,482,111 (GRCm39) |
S72R |
possibly damaging |
Het |
Slu7 |
T |
A |
11: 43,332,849 (GRCm39) |
|
probably null |
Het |
Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Suclg1 |
T |
A |
6: 73,237,504 (GRCm39) |
V83E |
probably damaging |
Het |
Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
Tap2 |
T |
C |
17: 34,424,432 (GRCm39) |
V55A |
probably damaging |
Het |
Tekt4 |
T |
C |
17: 25,692,732 (GRCm39) |
I186T |
possibly damaging |
Het |
Trpc6 |
C |
A |
9: 8,643,602 (GRCm39) |
D462E |
possibly damaging |
Het |
Ubqln3 |
T |
G |
7: 103,791,170 (GRCm39) |
T307P |
probably damaging |
Het |
Vmn1r64 |
A |
T |
7: 5,886,727 (GRCm39) |
I272K |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,247,859 (GRCm39) |
T1021A |
possibly damaging |
Het |
Zfp512 |
A |
T |
5: 31,628,501 (GRCm39) |
H159L |
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 |
|
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 |
|
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 |
|
|
Posted On |
2015-04-16 |