Incidental Mutation 'R6394:Setd5'
ID |
515933 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd5
|
Ensembl Gene |
ENSMUSG00000034269 |
Gene Name |
SET domain containing 5 |
Synonyms |
2900045N06Rik |
MMRRC Submission |
044543-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 113092505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 295
(V295G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
AlphaFold |
Q5XJV7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042889
AA Change: V276G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047398 Gene: ENSMUSG00000034269 AA Change: V276G
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 damaging
Transcript: ENSMUST00000113155
AA Change: V295G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108780 Gene: ENSMUSG00000034269 AA Change: V295G
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 damaging
Transcript: ENSMUST00000113157
AA Change: V295G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108782 Gene: ENSMUSG00000034269 AA Change: V295G
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: ENSMUST00000149584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204377
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
A |
T |
14: 78,760,029 (GRCm39) |
|
probably null |
Het |
Alpi |
T |
A |
1: 87,028,428 (GRCm39) |
Y154F |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,206,356 (GRCm39) |
F1635I |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,361,213 (GRCm39) |
V60M |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,116,464 (GRCm39) |
Y937C |
probably damaging |
Het |
Brd4 |
C |
A |
17: 32,443,121 (GRCm39) |
E167* |
probably null |
Het |
Cacna1h |
G |
A |
17: 25,606,455 (GRCm39) |
T1048I |
probably benign |
Het |
Ccdc113 |
A |
G |
8: 96,283,820 (GRCm39) |
D298G |
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,394,605 (GRCm39) |
N74I |
possibly damaging |
Het |
Chd8 |
A |
T |
14: 52,440,042 (GRCm39) |
H4Q |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,284,524 (GRCm39) |
T621A |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,290,172 (GRCm39) |
T843A |
possibly damaging |
Het |
Clcn3 |
C |
T |
8: 61,394,325 (GRCm39) |
R68Q |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,132 (GRCm39) |
N355K |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,132,401 (GRCm39) |
C1100* |
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,168,331 (GRCm39) |
V428E |
probably damaging |
Het |
E230025N22Rik |
T |
C |
18: 36,819,839 (GRCm39) |
E317G |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evc2 |
C |
A |
5: 37,535,619 (GRCm39) |
D431E |
probably damaging |
Het |
Gcm2 |
T |
G |
13: 41,263,373 (GRCm39) |
T20P |
probably damaging |
Het |
Gdf9 |
A |
G |
11: 53,327,524 (GRCm39) |
Y160C |
probably damaging |
Het |
Gm8220 |
A |
G |
14: 44,523,134 (GRCm39) |
|
probably benign |
Het |
Gpalpp1 |
A |
T |
14: 76,344,852 (GRCm39) |
S44T |
possibly damaging |
Het |
Grip2 |
T |
C |
6: 91,764,182 (GRCm39) |
Y134C |
probably damaging |
Het |
Hephl1 |
A |
G |
9: 14,985,397 (GRCm39) |
F753S |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,302,341 (GRCm39) |
T727A |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,865,729 (GRCm39) |
E4232G |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,642,548 (GRCm39) |
|
probably null |
Het |
Jrkl |
A |
C |
9: 13,245,495 (GRCm39) |
Y55* |
probably null |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Kif18b |
A |
G |
11: 102,805,236 (GRCm39) |
V303A |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,144,830 (GRCm39) |
C423* |
probably null |
Het |
Klhl29 |
T |
C |
12: 5,187,720 (GRCm39) |
S215G |
probably benign |
Het |
Lamp5 |
A |
G |
2: 135,902,929 (GRCm39) |
D216G |
possibly damaging |
Het |
Leo1 |
T |
A |
9: 75,352,752 (GRCm39) |
D98E |
probably benign |
Het |
Map3k3 |
T |
C |
11: 106,039,709 (GRCm39) |
V283A |
probably benign |
Het |
Med12l |
A |
G |
3: 59,142,508 (GRCm39) |
K902E |
probably damaging |
Het |
Mmp1b |
C |
A |
9: 7,386,316 (GRCm39) |
D202Y |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,931,058 (GRCm39) |
|
probably benign |
Het |
Onecut3 |
A |
G |
10: 80,331,847 (GRCm39) |
I336V |
probably damaging |
Het |
Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,001 (GRCm39) |
Q174R |
probably benign |
Het |
Or10h1 |
G |
A |
17: 33,418,487 (GRCm39) |
G155D |
probably damaging |
Het |
Or4c11b |
C |
T |
2: 88,625,296 (GRCm39) |
T190I |
probably benign |
Het |
Or56b1 |
T |
A |
7: 104,284,909 (GRCm39) |
N9K |
possibly damaging |
Het |
Or56b1 |
T |
C |
7: 104,285,234 (GRCm39) |
S118P |
possibly damaging |
Het |
Or5p64 |
C |
T |
7: 107,854,970 (GRCm39) |
R125H |
possibly damaging |
Het |
Or6c69 |
G |
T |
10: 129,747,789 (GRCm39) |
D119E |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,386,298 (GRCm39) |
V207A |
probably benign |
Het |
Pde3a |
A |
T |
6: 141,433,237 (GRCm39) |
H756L |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phyh |
A |
G |
2: 4,940,814 (GRCm39) |
D238G |
probably benign |
Het |
Pnliprp2 |
T |
A |
19: 58,750,030 (GRCm39) |
N92K |
probably benign |
Het |
Pole3 |
T |
C |
4: 62,442,263 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
T |
C |
11: 85,230,498 (GRCm39) |
V372A |
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,034,890 (GRCm39) |
I766N |
probably damaging |
Het |
Prr5 |
T |
A |
15: 84,583,925 (GRCm39) |
V175E |
probably damaging |
Het |
Prss59 |
A |
T |
6: 40,898,726 (GRCm39) |
L174* |
probably null |
Het |
Ptprq |
T |
A |
10: 107,478,804 (GRCm39) |
K1280* |
probably null |
Het |
Rbp2 |
T |
A |
9: 98,389,873 (GRCm39) |
V95E |
possibly damaging |
Het |
Rictor |
T |
C |
15: 6,798,790 (GRCm39) |
F346L |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Scn10a |
T |
A |
9: 119,490,386 (GRCm39) |
I519F |
probably benign |
Het |
Shcbp1 |
A |
T |
8: 4,786,176 (GRCm39) |
M642K |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,276,017 (GRCm39) |
G243E |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,121,732 (GRCm39) |
Y498H |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,987,039 (GRCm39) |
D175G |
probably damaging |
Het |
Stard7 |
A |
G |
2: 127,126,161 (GRCm39) |
D71G |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,774,975 (GRCm39) |
Y59* |
probably null |
Het |
Supt6 |
G |
A |
11: 78,121,891 (GRCm39) |
R254C |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,037,269 (GRCm39) |
T3817I |
probably benign |
Het |
Tas2r124 |
T |
A |
6: 132,732,039 (GRCm39) |
I116N |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,301,987 (GRCm39) |
E550D |
possibly damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,774,253 (GRCm39) |
S548P |
probably damaging |
Het |
Zmynd8 |
C |
A |
2: 165,687,943 (GRCm39) |
E126* |
probably null |
Het |
Zswim9 |
A |
T |
7: 12,994,889 (GRCm39) |
S422R |
probably damaging |
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 |
|
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'- TTACCTTCTCTGGGACCACTAATTG -3'
(R):5'- TCAGTCAGAACCATGCAAGC -3'
Sequencing Primer
(F):5'- GTTTCCTGGAAACTTGAGATTATGTC -3'
(R):5'- TGCAAGCCCTCAATGCTC -3'
|
Posted On |
2018-05-04 |