Incidental Mutation 'R7328:Setd1b'
ID |
569045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd1b
|
Ensembl Gene |
ENSMUSG00000038384 |
Gene Name |
SET domain containing 1B |
Synonyms |
KMT2G |
MMRRC Submission |
045421-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7328 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
123280256-123306692 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 123290442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 803
(V803D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056053]
[ENSMUST00000163030]
[ENSMUST00000174836]
|
AlphaFold |
Q8CFT2 |
Predicted Effect |
unknown
Transcript: ENSMUST00000056053
AA Change: V803D
|
SMART Domains |
Protein: ENSMUSP00000134686 Gene: ENSMUSG00000038384 AA Change: V803D
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: ENSMUST00000163030
AA Change: V803D
|
SMART Domains |
Protein: ENSMUSP00000133933 Gene: ENSMUSG00000038384 AA Change: V803D
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: V803D
|
SMART Domains |
Protein: ENSMUSP00000134461 Gene: ENSMUSG00000038384 AA Change: V803D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
G |
11: 72,060,606 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,241,545 (GRCm39) |
V1136E |
probably benign |
Het |
Arl4c |
C |
A |
1: 88,629,239 (GRCm39) |
E50* |
probably null |
Het |
Atxn7l1 |
T |
C |
12: 33,198,502 (GRCm39) |
|
probably null |
Het |
Ctdsp1 |
A |
T |
1: 74,433,199 (GRCm39) |
I115F |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,450 (GRCm39) |
V91A |
probably damaging |
Het |
Dscam |
T |
A |
16: 96,446,235 (GRCm39) |
K1469* |
probably null |
Het |
Elf2 |
A |
G |
3: 51,174,198 (GRCm39) |
C110R |
probably damaging |
Het |
Ephb1 |
A |
G |
9: 102,072,438 (GRCm39) |
Y114H |
probably damaging |
Het |
Ephb2 |
C |
T |
4: 136,386,245 (GRCm39) |
|
probably null |
Het |
Fbxw20 |
C |
A |
9: 109,061,383 (GRCm39) |
C122F |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,883,788 (GRCm38) |
I338T |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,894,660 (GRCm38) |
Y819* |
probably null |
Het |
Foxo3 |
A |
T |
10: 42,073,258 (GRCm39) |
S420T |
probably benign |
Het |
Herpud1 |
T |
C |
8: 95,113,248 (GRCm39) |
V10A |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,514,617 (GRCm39) |
V3585E |
possibly damaging |
Het |
Hsdl1 |
T |
C |
8: 120,292,830 (GRCm39) |
T202A |
probably benign |
Het |
Htr1d |
G |
A |
4: 136,170,614 (GRCm39) |
S281N |
probably benign |
Het |
Igkv14-111 |
T |
A |
6: 68,233,709 (GRCm39) |
I70N |
probably damaging |
Het |
Igkv8-34 |
A |
G |
6: 70,021,328 (GRCm39) |
S45P |
probably damaging |
Het |
Inha |
T |
C |
1: 75,486,760 (GRCm39) |
Y352H |
probably damaging |
Het |
Lats1 |
A |
T |
10: 7,581,311 (GRCm39) |
M699L |
possibly damaging |
Het |
Marchf9 |
T |
C |
10: 126,894,165 (GRCm39) |
E146G |
probably damaging |
Het |
Mcm8 |
T |
C |
2: 132,674,777 (GRCm39) |
V443A |
probably benign |
Het |
Melk |
A |
T |
4: 44,332,931 (GRCm39) |
S296C |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,698,737 (GRCm39) |
S4P |
|
Het |
Myof |
T |
C |
19: 37,904,847 (GRCm39) |
Y1646C |
probably damaging |
Het |
Noc4l |
C |
A |
5: 110,796,789 (GRCm39) |
A498S |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 88,762,345 (GRCm39) |
S131P |
probably benign |
Het |
Or5ae2 |
T |
C |
7: 84,506,507 (GRCm39) |
I312T |
probably benign |
Het |
Or5ak23 |
A |
G |
2: 85,244,668 (GRCm39) |
I185T |
probably benign |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Or8g23 |
T |
C |
9: 38,971,857 (GRCm39) |
Y35C |
probably damaging |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Phldb2 |
T |
A |
16: 45,578,572 (GRCm39) |
|
probably null |
Het |
Polr2b |
C |
T |
5: 77,463,846 (GRCm39) |
P81L |
probably damaging |
Het |
Rbfa |
C |
A |
18: 80,236,454 (GRCm39) |
G215C |
probably benign |
Het |
Rdh19 |
T |
C |
10: 127,692,896 (GRCm39) |
S188P |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,314,931 (GRCm39) |
M1596V |
probably benign |
Het |
Sele |
A |
T |
1: 163,876,844 (GRCm39) |
Y40F |
probably benign |
Het |
Siglecf |
C |
T |
7: 43,001,691 (GRCm39) |
T167I |
possibly damaging |
Het |
Slc39a6 |
T |
C |
18: 24,733,987 (GRCm39) |
E234G |
probably benign |
Het |
Slco1a1 |
T |
A |
6: 141,882,134 (GRCm39) |
D145V |
possibly damaging |
Het |
Son |
G |
A |
16: 91,455,278 (GRCm39) |
V1342I |
probably benign |
Het |
Sybu |
G |
A |
15: 44,651,190 (GRCm39) |
P38L |
not run |
Het |
Taf15 |
C |
T |
11: 83,375,658 (GRCm39) |
T41M |
possibly damaging |
Het |
Tm4sf4 |
A |
T |
3: 57,333,925 (GRCm39) |
N71Y |
probably benign |
Het |
Tm7sf2 |
C |
T |
19: 6,114,156 (GRCm39) |
V226I |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,056,958 (GRCm39) |
Q1066H |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,291,685 (GRCm39) |
V51A |
probably benign |
Het |
Vav3 |
A |
T |
3: 109,410,744 (GRCm39) |
I192L |
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 |
|
R5044:Setd1b
|
UTSW |
5 |
123,289,929 (GRCm39) |
missense |
unknown |
|
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 |
|
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'- CTGTGATGCAGGTGGACATG -3'
(R):5'- ATTCGTCAAAGGCCCGGAAG -3'
Sequencing Primer
(F):5'- CAGGTGGACATGAGCCATG -3'
(R):5'- AGATCACGCTTCATGATGGC -3'
|
Posted On |
2019-09-13 |