Incidental Mutation 'R8424:Setd5'
| ID |
653352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
067818-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113126644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1227
(E1227G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
| AlphaFold |
Q5XJV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042889
AA Change: E1208G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: E1208G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
165 |
180 |
N/A |
INTRINSIC |
|
SET
|
272 |
396 |
1.09e-23 |
SMART |
|
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
552 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
1082 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1250 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1301 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1346 |
N/A |
INTRINSIC |
|
low complexity region
|
1352 |
1372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113155
AA Change: E1227G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: E1227G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
SET
|
291 |
415 |
1.09e-23 |
SMART |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1126 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1157 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1354 |
1365 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113157
AA Change: E1227G
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: E1227G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
SET
|
291 |
415 |
1.09e-23 |
SMART |
|
low complexity region
|
436 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1126 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1157 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1302 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1354 |
1365 |
N/A |
INTRINSIC |
|
low complexity region
|
1371 |
1391 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,946,885 (GRCm39) |
P42S |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,416,538 (GRCm39) |
T694A |
unknown |
Het |
| Adar |
C |
T |
3: 89,643,301 (GRCm39) |
P394L |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,507,814 (GRCm39) |
M370V |
probably benign |
Het |
| Bag6 |
T |
A |
17: 35,365,830 (GRCm39) |
L1089Q |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,365,721 (GRCm39) |
Y1155C |
probably benign |
Het |
| Cbl |
G |
A |
9: 44,064,151 (GRCm39) |
T795I |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,726,526 (GRCm39) |
A349S |
probably benign |
Het |
| Cdh5 |
G |
A |
8: 104,856,003 (GRCm39) |
R312H |
probably benign |
Het |
| Cdk5rap1 |
T |
C |
2: 154,187,932 (GRCm39) |
T465A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,741,906 (GRCm39) |
T114I |
possibly damaging |
Het |
| Csrp1 |
T |
C |
1: 135,667,188 (GRCm39) |
V17A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,777,804 (GRCm39) |
S105P |
probably benign |
Het |
| Dgki |
C |
A |
6: 36,827,850 (GRCm39) |
V1016L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,829,836 (GRCm39) |
N746S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,841,144 (GRCm39) |
V1796E |
unknown |
Het |
| Fam83a |
T |
A |
15: 57,873,046 (GRCm39) |
S292T |
possibly damaging |
Het |
| H2ac4 |
A |
G |
13: 23,935,267 (GRCm39) |
Y51C |
probably damaging |
Het |
| Keap1 |
C |
A |
9: 21,142,086 (GRCm39) |
R596L |
probably benign |
Het |
| Klhl5 |
A |
C |
5: 65,320,305 (GRCm39) |
T620P |
probably benign |
Het |
| Lbhd1 |
T |
A |
19: 8,861,341 (GRCm39) |
D16E |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,083,414 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ncbp1 |
A |
T |
4: 46,144,839 (GRCm39) |
H30L |
probably benign |
Het |
| Or5ac21 |
A |
T |
16: 59,123,772 (GRCm39) |
L85F |
possibly damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,023,902 (GRCm39) |
|
probably benign |
Het |
| Rc3h1 |
C |
T |
1: 160,793,342 (GRCm39) |
L1076F |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,672,239 (GRCm39) |
I1431V |
possibly damaging |
Het |
| S100a7a |
T |
A |
3: 90,562,868 (GRCm39) |
H18Q |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,296 (GRCm39) |
T340A |
possibly damaging |
Het |
| Sh3yl1 |
G |
A |
12: 30,974,862 (GRCm39) |
R71H |
probably damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,836 (GRCm39) |
S117P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,141,560 (GRCm39) |
V1780A |
probably benign |
Het |
| Sting1 |
A |
C |
18: 35,872,223 (GRCm39) |
I93S |
probably benign |
Het |
| Tas2r130 |
T |
G |
6: 131,607,790 (GRCm39) |
T2P |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,566,316 (GRCm39) |
F1454I |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,566,317 (GRCm39) |
F1454S |
probably damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,555,205 (GRCm39) |
S793P |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,928,338 (GRCm39) |
D535E |
probably damaging |
Het |
| Ube2h |
A |
G |
6: 30,260,940 (GRCm39) |
S65P |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,709,004 (GRCm39) |
S262P |
probably damaging |
Het |
| Wfdc8 |
A |
G |
2: 164,445,078 (GRCm39) |
F179S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,911,388 (GRCm39) |
T2153A |
unknown |
Het |
| Zfhx3 |
G |
T |
8: 109,583,385 (GRCm39) |
G1084V |
probably damaging |
Het |
| Zfp273 |
A |
G |
13: 67,970,471 (GRCm39) |
N40D |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,112,480 (GRCm39) |
P207S |
possibly damaging |
Het |
| Zfp952 |
T |
A |
17: 33,222,191 (GRCm39) |
F223L |
probably benign |
Het |
|
| Other mutations in Setd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Setd5
|
APN |
6 |
113,088,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Setd5
|
APN |
6 |
113,127,946 (GRCm39) |
nonsense |
probably null |
|
|
IGL02105:Setd5
|
APN |
6 |
113,094,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02202:Setd5
|
APN |
6 |
113,127,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02221:Setd5
|
APN |
6 |
113,098,131 (GRCm39) |
splice site |
probably benign |
|
|
IGL02382:Setd5
|
APN |
6 |
113,120,601 (GRCm39) |
missense |
probably benign |
|
|
IGL02394:Setd5
|
APN |
6 |
113,087,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02442:Setd5
|
APN |
6 |
113,087,341 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02480:Setd5
|
APN |
6 |
113,120,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02940:Setd5
|
APN |
6 |
113,091,899 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0320:Setd5
|
UTSW |
6 |
113,088,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0479:Setd5
|
UTSW |
6 |
113,091,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Setd5
|
UTSW |
6 |
113,096,398 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Setd5
|
UTSW |
6 |
113,098,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1530:Setd5
|
UTSW |
6 |
113,086,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2176:Setd5
|
UTSW |
6 |
113,128,114 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2191:Setd5
|
UTSW |
6 |
113,088,390 (GRCm39) |
nonsense |
probably null |
|
|
R2286:Setd5
|
UTSW |
6 |
113,096,571 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4163:Setd5
|
UTSW |
6 |
113,096,545 (GRCm39) |
missense |
probably benign |
|
|
R4294:Setd5
|
UTSW |
6 |
113,088,281 (GRCm39) |
intron |
probably benign |
|
|
R4300:Setd5
|
UTSW |
6 |
113,127,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Setd5
|
UTSW |
6 |
113,088,281 (GRCm39) |
intron |
probably benign |
|
|
R4370:Setd5
|
UTSW |
6 |
113,098,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Setd5
|
UTSW |
6 |
113,128,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Setd5
|
UTSW |
6 |
113,126,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Setd5
|
UTSW |
6 |
113,114,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5345:Setd5
|
UTSW |
6 |
113,092,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Setd5
|
UTSW |
6 |
113,098,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Setd5
|
UTSW |
6 |
113,124,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5582:Setd5
|
UTSW |
6 |
113,091,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5838:Setd5
|
UTSW |
6 |
113,096,396 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5941:Setd5
|
UTSW |
6 |
113,105,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Setd5
|
UTSW |
6 |
113,087,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6146:Setd5
|
UTSW |
6 |
113,098,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6394:Setd5
|
UTSW |
6 |
113,092,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Setd5
|
UTSW |
6 |
113,120,669 (GRCm39) |
missense |
probably benign |
|
|
R7058:Setd5
|
UTSW |
6 |
113,092,532 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7060:Setd5
|
UTSW |
6 |
113,094,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Setd5
|
UTSW |
6 |
113,098,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7238:Setd5
|
UTSW |
6 |
113,098,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7296:Setd5
|
UTSW |
6 |
113,124,518 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7438:Setd5
|
UTSW |
6 |
113,092,043 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7515:Setd5
|
UTSW |
6 |
113,087,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Setd5
|
UTSW |
6 |
113,121,010 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7652:Setd5
|
UTSW |
6 |
113,098,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Setd5
|
UTSW |
6 |
113,105,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8083:Setd5
|
UTSW |
6 |
113,091,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Setd5
|
UTSW |
6 |
113,091,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Setd5
|
UTSW |
6 |
113,127,916 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8268:Setd5
|
UTSW |
6 |
113,126,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8271:Setd5
|
UTSW |
6 |
113,092,031 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8508:Setd5
|
UTSW |
6 |
113,098,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Setd5
|
UTSW |
6 |
113,127,853 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8864:Setd5
|
UTSW |
6 |
113,088,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Setd5
|
UTSW |
6 |
113,098,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9522:Setd5
|
UTSW |
6 |
113,091,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9588:Setd5
|
UTSW |
6 |
113,121,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Setd5
|
UTSW |
6 |
113,128,366 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9711:Setd5
|
UTSW |
6 |
113,093,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Setd5
|
UTSW |
6 |
113,128,366 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0017:Setd5
|
UTSW |
6 |
113,127,129 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1176:Setd5
|
UTSW |
6 |
113,115,057 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Setd5
|
UTSW |
6 |
113,091,957 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGATTTGTTTCAGACTCTTAGCC -3'
(R):5'- CTTCATGAAGGTGGAGCTCC -3'
Sequencing Primer
(F):5'- AGACTCTTAGCCCTTAATCTCTGTGG -3'
(R):5'- TGGAGCTCCGGAACATTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation