Incidental Mutation 'R6146:Setd5'
| ID |
488872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
044293-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6146 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 113098773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
| AlphaFold |
Q5XJV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042889
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
| 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 null
Transcript: ENSMUST00000113155
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
| 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 null
Transcript: ENSMUST00000113157
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
| 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 |
noncoding transcript
Transcript: ENSMUST00000124467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153513
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
| AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
| Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
| Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
| Cgn |
G |
T |
3: 94,674,435 (GRCm39) |
Q901K |
possibly damaging |
Het |
| Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
| Cluh |
G |
T |
11: 74,558,054 (GRCm39) |
|
probably null |
Het |
| Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
| Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,126,075 (GRCm39) |
E569G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
| Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
| Ltbp4 |
T |
A |
7: 27,019,149 (GRCm39) |
I992F |
probably damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
| Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
| Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
| Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
| Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
| Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
| Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
| Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
| Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,180,534 (GRCm39) |
M623L |
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
| Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
| Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
| Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
| Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
| Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
| Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
| Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
| Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
| Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
probably null |
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 |
|
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 |
|
R8424:Setd5
|
UTSW |
6 |
113,126,644 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- ACCACTGACCCAACTGTGTTG -3'
(R):5'- TGACCACAGTGACTTCTAAAGAGTC -3'
Sequencing Primer
(F):5'- GGCAACAACCCTGAACATG -3'
(R):5'- CAGTGACTTCTAAAGAGTCTACTTCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation