Incidental Mutation 'R5044:Setd1b'
| ID |
394250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd1b
|
| Ensembl Gene |
ENSMUSG00000038384 |
| Gene Name |
SET domain containing 1B |
| Synonyms |
KMT2G |
| MMRRC Submission |
042634-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5044 (G1)
|
| Quality Score |
132 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123289929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 632
(I632N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134461
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056053]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
| AlphaFold |
Q8CFT2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000056053
AA Change: I632N
|
| SMART Domains |
Protein: ENSMUSP00000134686
Gene: ENSMUSG00000038384
AA Change: I632N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
|
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
|
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
|
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
|
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
|
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100731
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163030
AA Change: I632N
|
| SMART Domains |
Protein: ENSMUSP00000133933
Gene: ENSMUSG00000038384
AA Change: I632N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.29e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.29e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1147 |
N/A |
INTRINSIC |
|
coiled coil region
|
1190 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1262 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1322 |
1383 |
N/A |
INTRINSIC |
|
low complexity region
|
1402 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1548 |
N/A |
INTRINSIC |
|
low complexity region
|
1600 |
1618 |
N/A |
INTRINSIC |
|
N-SET
|
1692 |
1836 |
1.54e-67 |
SMART |
|
SET
|
1846 |
1969 |
4.03e-36 |
SMART |
|
PostSET
|
1969 |
1985 |
4.8e-6 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174836
AA Change: I632N
|
| SMART Domains |
Protein: ENSMUSP00000134461
Gene: ENSMUSG00000038384
AA Change: I632N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
RRM
|
103 |
176 |
6.41e-13 |
SMART |
|
low complexity region
|
229 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
248 |
266 |
1.92e-7 |
PROSPERO |
|
internal_repeat_1
|
279 |
296 |
1.92e-7 |
PROSPERO |
|
low complexity region
|
366 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
746 |
N/A |
INTRINSIC |
|
Blast:SET
|
749 |
976 |
5e-26 |
BLAST |
|
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
|
coiled coil region
|
1053 |
1088 |
N/A |
INTRINSIC |
|
coiled coil region
|
1149 |
1172 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1221 |
N/A |
INTRINSIC |
|
low complexity region
|
1240 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1342 |
N/A |
INTRINSIC |
|
low complexity region
|
1361 |
1401 |
N/A |
INTRINSIC |
|
low complexity region
|
1443 |
1507 |
N/A |
INTRINSIC |
|
low complexity region
|
1559 |
1577 |
N/A |
INTRINSIC |
|
N-SET
|
1651 |
1795 |
1.54e-67 |
SMART |
|
SET
|
1805 |
1928 |
4.03e-36 |
SMART |
|
PostSET
|
1928 |
1944 |
4.8e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181022
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
96% (73/76) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutant animals died during organogenesis by E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,323,323 (GRCm39) |
F3387I |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,304,088 (GRCm39) |
S170R |
probably benign |
Het |
| Adamtsl4 |
A |
G |
3: 95,588,960 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,637,050 (GRCm39) |
C3464R |
probably benign |
Het |
| Apbb1 |
A |
T |
7: 105,214,889 (GRCm39) |
|
probably benign |
Het |
| Cad |
A |
G |
5: 31,212,365 (GRCm39) |
T23A |
probably benign |
Het |
| Cdca7 |
A |
G |
2: 72,313,759 (GRCm39) |
R183G |
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,693,513 (GRCm39) |
T5A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,883,490 (GRCm39) |
D133G |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 66,128,359 (GRCm39) |
L189P |
probably damaging |
Het |
| Clca3a1 |
A |
C |
3: 144,713,689 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
G |
T |
15: 92,140,876 (GRCm39) |
V201F |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,644,267 (GRCm39) |
E352G |
unknown |
Het |
| Ddhd2 |
T |
C |
8: 26,242,164 (GRCm39) |
Y237C |
probably damaging |
Het |
| Dnah6 |
A |
C |
6: 73,014,605 (GRCm39) |
F3609V |
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,422,650 (GRCm39) |
K580R |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,334,560 (GRCm39) |
N878S |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,171,022 (GRCm39) |
T1938P |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,969 (GRCm39) |
V234A |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,761,660 (GRCm39) |
N351D |
probably benign |
Het |
| Glt1d1 |
A |
T |
5: 127,721,478 (GRCm39) |
N55I |
probably benign |
Het |
| Gm17641 |
C |
A |
3: 68,776,807 (GRCm39) |
|
probably benign |
Het |
| Gm7665 |
A |
G |
18: 16,407,788 (GRCm39) |
|
noncoding transcript |
Het |
| Hgf |
A |
C |
5: 16,819,892 (GRCm39) |
N541T |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,795,814 (GRCm39) |
P152S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,060,041 (GRCm39) |
L720F |
probably damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,761 (GRCm39) |
E511G |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,646,538 (GRCm39) |
A235T |
probably benign |
Het |
| Lmln |
A |
G |
16: 32,894,550 (GRCm39) |
D231G |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,403,364 (GRCm39) |
C2070R |
probably damaging |
Het |
| Mbl1 |
A |
G |
14: 40,880,681 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,299,934 (GRCm39) |
S355T |
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,772,332 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
A |
C |
14: 103,376,671 (GRCm39) |
|
probably null |
Het |
| Naa20 |
T |
C |
2: 145,757,762 (GRCm39) |
S164P |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,312,807 (GRCm39) |
|
probably benign |
Het |
| Npas2 |
A |
T |
1: 39,386,587 (GRCm39) |
R619* |
probably null |
Het |
| Nudt19 |
G |
A |
7: 35,255,171 (GRCm39) |
T20I |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,283 (GRCm39) |
K79* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,878,365 (GRCm39) |
Y260H |
probably damaging |
Het |
| Pitpnc1 |
A |
G |
11: 107,187,054 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Rcor2 |
A |
G |
19: 7,247,150 (GRCm39) |
T6A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,999,940 (GRCm39) |
S1131R |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,972 (GRCm39) |
D377E |
probably benign |
Het |
| Rtn4rl2 |
T |
A |
2: 84,702,846 (GRCm39) |
N242I |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,898,022 (GRCm39) |
L719F |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,648,897 (GRCm39) |
D55E |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,729,390 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,443,889 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
A |
T |
3: 102,752,370 (GRCm39) |
I804N |
probably benign |
Het |
| Tdp2 |
G |
A |
13: 25,015,809 (GRCm39) |
R32Q |
probably benign |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,795 (GRCm39) |
V618A |
possibly damaging |
Het |
| Tmc3 |
C |
T |
7: 83,258,326 (GRCm39) |
P439S |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,457 (GRCm39) |
D2740V |
probably damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,173,933 (GRCm39) |
T142A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,710,785 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,004,061 (GRCm39) |
L34P |
probably damaging |
Het |
| Tubgcp6 |
G |
T |
15: 88,983,748 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,962 (GRCm39) |
V1690E |
probably benign |
Het |
| Vps4b |
T |
C |
1: 106,724,148 (GRCm39) |
|
probably null |
Het |
| Wtap |
A |
G |
17: 13,186,525 (GRCm39) |
S341P |
possibly damaging |
Het |
| Wwc1 |
T |
C |
11: 35,774,172 (GRCm39) |
T363A |
probably benign |
Het |
| Zbtb8a |
G |
A |
4: 129,254,293 (GRCm39) |
T67M |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,037,668 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Setd1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Setd1b
|
APN |
5 |
123,296,810 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01453:Setd1b
|
APN |
5 |
123,296,527 (GRCm39) |
intron |
probably benign |
|
|
IGL01637:Setd1b
|
APN |
5 |
123,286,576 (GRCm39) |
missense |
unknown |
|
|
IGL01792:Setd1b
|
APN |
5 |
123,295,209 (GRCm39) |
missense |
unknown |
|
|
IGL01877:Setd1b
|
APN |
5 |
123,286,511 (GRCm39) |
missense |
unknown |
|
|
IGL01906:Setd1b
|
APN |
5 |
123,295,730 (GRCm39) |
missense |
unknown |
|
|
IGL01942:Setd1b
|
APN |
5 |
123,301,489 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02284:Setd1b
|
APN |
5 |
123,301,491 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02667:Setd1b
|
APN |
5 |
123,295,560 (GRCm39) |
missense |
unknown |
|
|
IGL02850:Setd1b
|
APN |
5 |
123,286,652 (GRCm39) |
missense |
unknown |
|
|
IGL02864:Setd1b
|
APN |
5 |
123,297,002 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03006:Setd1b
|
APN |
5 |
123,286,514 (GRCm39) |
missense |
unknown |
|
|
IGL03307:Setd1b
|
APN |
5 |
123,286,734 (GRCm39) |
missense |
unknown |
|
|
P0037:Setd1b
|
UTSW |
5 |
123,303,984 (GRCm39) |
unclassified |
probably benign |
|
|
R0282:Setd1b
|
UTSW |
5 |
123,299,080 (GRCm39) |
unclassified |
probably benign |
|
|
R0375:Setd1b
|
UTSW |
5 |
123,295,500 (GRCm39) |
missense |
unknown |
|
|
R0550:Setd1b
|
UTSW |
5 |
123,295,723 (GRCm39) |
missense |
unknown |
|
|
R0607:Setd1b
|
UTSW |
5 |
123,298,014 (GRCm39) |
unclassified |
probably benign |
|
|
R0844:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R0973:Setd1b
|
UTSW |
5 |
123,298,766 (GRCm39) |
small insertion |
probably benign |
|
|
R1119:Setd1b
|
UTSW |
5 |
123,285,779 (GRCm39) |
missense |
unknown |
|
|
R1266:Setd1b
|
UTSW |
5 |
123,285,904 (GRCm39) |
missense |
unknown |
|
|
R1370:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R1416:Setd1b
|
UTSW |
5 |
123,298,748 (GRCm39) |
unclassified |
probably benign |
|
|
R1575:Setd1b
|
UTSW |
5 |
123,301,210 (GRCm39) |
splice site |
probably benign |
|
|
R1862:Setd1b
|
UTSW |
5 |
123,285,676 (GRCm39) |
missense |
unknown |
|
|
R1987:Setd1b
|
UTSW |
5 |
123,285,769 (GRCm39) |
missense |
unknown |
|
|
R4109:Setd1b
|
UTSW |
5 |
123,290,137 (GRCm39) |
small deletion |
probably benign |
|
|
R4399:Setd1b
|
UTSW |
5 |
123,299,861 (GRCm39) |
unclassified |
probably benign |
|
|
R4445:Setd1b
|
UTSW |
5 |
123,286,167 (GRCm39) |
missense |
unknown |
|
|
R4577:Setd1b
|
UTSW |
5 |
123,286,679 (GRCm39) |
missense |
unknown |
|
|
R4604:Setd1b
|
UTSW |
5 |
123,290,137 (GRCm39) |
small deletion |
probably benign |
|
|
R4647:Setd1b
|
UTSW |
5 |
123,286,175 (GRCm39) |
missense |
unknown |
|
|
R4648:Setd1b
|
UTSW |
5 |
123,286,175 (GRCm39) |
missense |
unknown |
|
|
R4675:Setd1b
|
UTSW |
5 |
123,299,061 (GRCm39) |
unclassified |
probably benign |
|
|
R5071:Setd1b
|
UTSW |
5 |
123,298,977 (GRCm39) |
unclassified |
probably benign |
|
|
R5220:Setd1b
|
UTSW |
5 |
123,281,471 (GRCm39) |
missense |
unknown |
|
|
R5933:Setd1b
|
UTSW |
5 |
123,296,815 (GRCm39) |
unclassified |
probably benign |
|
|
R6247:Setd1b
|
UTSW |
5 |
123,296,461 (GRCm39) |
intron |
probably benign |
|
|
R6446:Setd1b
|
UTSW |
5 |
123,299,862 (GRCm39) |
unclassified |
probably benign |
|
|
R6714:Setd1b
|
UTSW |
5 |
123,295,654 (GRCm39) |
missense |
unknown |
|
|
R6907:Setd1b
|
UTSW |
5 |
123,301,295 (GRCm39) |
unclassified |
probably benign |
|
|
R7328:Setd1b
|
UTSW |
5 |
123,290,442 (GRCm39) |
missense |
unknown |
|
|
R7412:Setd1b
|
UTSW |
5 |
123,290,639 (GRCm39) |
missense |
unknown |
|
|
R7486:Setd1b
|
UTSW |
5 |
123,301,655 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7542:Setd1b
|
UTSW |
5 |
123,286,510 (GRCm39) |
missense |
unknown |
|
|
R7555:Setd1b
|
UTSW |
5 |
123,295,820 (GRCm39) |
missense |
unknown |
|
|
R7611:Setd1b
|
UTSW |
5 |
123,290,657 (GRCm39) |
missense |
unknown |
|
|
R7764:Setd1b
|
UTSW |
5 |
123,284,622 (GRCm39) |
missense |
unknown |
|
|
R7770:Setd1b
|
UTSW |
5 |
123,296,815 (GRCm39) |
unclassified |
probably benign |
|
|
R7881:Setd1b
|
UTSW |
5 |
123,290,336 (GRCm39) |
missense |
unknown |
|
|
R7977:Setd1b
|
UTSW |
5 |
123,285,743 (GRCm39) |
missense |
unknown |
|
|
R7987:Setd1b
|
UTSW |
5 |
123,285,743 (GRCm39) |
missense |
unknown |
|
|
R8131:Setd1b
|
UTSW |
5 |
123,281,443 (GRCm39) |
missense |
unknown |
|
|
R8386:Setd1b
|
UTSW |
5 |
123,282,319 (GRCm39) |
missense |
unknown |
|
|
R8845:Setd1b
|
UTSW |
5 |
123,282,310 (GRCm39) |
missense |
unknown |
|
|
R8901:Setd1b
|
UTSW |
5 |
123,299,114 (GRCm39) |
unclassified |
probably benign |
|
|
R9224:Setd1b
|
UTSW |
5 |
123,296,773 (GRCm39) |
missense |
unknown |
|
|
R9438:Setd1b
|
UTSW |
5 |
123,285,944 (GRCm39) |
missense |
unknown |
|
|
R9643:Setd1b
|
UTSW |
5 |
123,298,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Setd1b
|
UTSW |
5 |
123,298,046 (GRCm39) |
missense |
unknown |
|
|
Z1177:Setd1b
|
UTSW |
5 |
123,296,688 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTTGACTGATGTGCCC -3'
(R):5'- CATGTCCACCTGCATCACAG -3'
Sequencing Primer
(F):5'- TGACTGATGTGCCCGAGGTC -3'
(R):5'- ACTGTCACTGCAGGATGGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation