Incidental Mutation 'R4163:Setd5'
ID |
321603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd5
|
Ensembl Gene |
ENSMUSG00000034269 |
Gene Name |
SET domain containing 5 |
Synonyms |
2900045N06Rik |
MMRRC Submission |
041006-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4163 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113096545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 584
(S584P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
AlphaFold |
Q5XJV7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042889
AA Change: S565P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047398 Gene: ENSMUSG00000034269 AA Change: S565P
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: S584P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108780 Gene: ENSMUSG00000034269 AA Change: S584P
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: S584P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108782 Gene: ENSMUSG00000034269 AA Change: S584P
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: ENSMUST00000142215
AA Change: S642P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141072
AA Change: S807P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149584
|
Meta Mutation Damage Score |
0.0593 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555F03Rik |
G |
A |
8: 49,948,531 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
C |
T |
11: 109,941,808 (GRCm39) |
D1154N |
probably benign |
Het |
Adgrf4 |
A |
G |
17: 42,978,477 (GRCm39) |
F289L |
probably benign |
Het |
Alkbh2 |
A |
G |
5: 114,265,613 (GRCm39) |
L63S |
probably damaging |
Het |
Atp13a4 |
A |
T |
16: 29,360,068 (GRCm39) |
N19K |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,933,975 (GRCm39) |
Y2544N |
probably damaging |
Het |
Bnip5 |
T |
C |
17: 29,118,503 (GRCm39) |
Y643C |
probably benign |
Het |
Bpifa3 |
A |
G |
2: 153,977,516 (GRCm39) |
N118S |
probably damaging |
Het |
Chst10 |
T |
A |
1: 38,910,904 (GRCm39) |
M87L |
probably benign |
Het |
Cnot9 |
C |
T |
1: 74,568,006 (GRCm39) |
P298L |
probably damaging |
Het |
Cops5 |
T |
C |
1: 10,100,912 (GRCm39) |
Y228C |
probably damaging |
Het |
Dcaf8 |
T |
G |
1: 172,020,137 (GRCm39) |
L492R |
probably damaging |
Het |
Dis3l2 |
A |
G |
1: 86,748,959 (GRCm39) |
S128G |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,346,051 (GRCm39) |
R198G |
possibly damaging |
Het |
Elovl7 |
T |
A |
13: 108,403,904 (GRCm39) |
M82K |
possibly damaging |
Het |
Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
Fcgr2b |
T |
C |
1: 170,791,016 (GRCm39) |
D259G |
possibly damaging |
Het |
Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
Frk |
C |
T |
10: 34,467,868 (GRCm39) |
P294L |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm128 |
C |
A |
3: 95,147,802 (GRCm39) |
R164L |
probably benign |
Het |
Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
Hexd |
C |
A |
11: 121,111,975 (GRCm39) |
A423E |
probably benign |
Het |
Itgax |
G |
T |
7: 127,743,872 (GRCm39) |
V878F |
probably benign |
Het |
Kank2 |
A |
T |
9: 21,706,864 (GRCm39) |
D51E |
probably damaging |
Het |
Kcna4 |
G |
C |
2: 107,126,151 (GRCm39) |
W295S |
probably damaging |
Het |
Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
Mis12 |
A |
G |
11: 70,916,482 (GRCm39) |
T172A |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
Myo18a |
G |
T |
11: 77,720,534 (GRCm39) |
R1103L |
possibly damaging |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Ntrk2 |
T |
C |
13: 59,008,054 (GRCm39) |
V272A |
probably damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,486 (GRCm39) |
C241S |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,855,039 (GRCm39) |
I102N |
probably benign |
Het |
Or7e165 |
A |
T |
9: 19,695,086 (GRCm39) |
Y219F |
possibly damaging |
Het |
Pcdh20 |
C |
T |
14: 88,705,615 (GRCm39) |
D562N |
probably damaging |
Het |
Prep |
T |
C |
10: 44,943,436 (GRCm39) |
F4L |
probably benign |
Het |
Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
Ptgs1 |
C |
T |
2: 36,141,346 (GRCm39) |
R598C |
possibly damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,113,135 (GRCm39) |
D759G |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,433,797 (GRCm39) |
D1514G |
probably damaging |
Het |
Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,967,010 (GRCm39) |
R565S |
possibly damaging |
Het |
Slc7a5 |
A |
G |
8: 122,615,139 (GRCm39) |
L236S |
probably benign |
Het |
Slfn3 |
A |
T |
11: 83,103,596 (GRCm39) |
I156F |
probably damaging |
Het |
Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
Trim72 |
T |
C |
7: 127,607,080 (GRCm39) |
V203A |
probably benign |
Het |
Vrk2 |
T |
A |
11: 26,497,915 (GRCm39) |
I90L |
probably benign |
Het |
Zc3h12c |
A |
T |
9: 52,026,999 (GRCm39) |
Y788N |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,485,822 (GRCm39) |
T166A |
possibly 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 |
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 |
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'- TGAAATAGCTTCTGGTTGATGC -3'
(R):5'- CCACAAACCAGCTGTTGAGATC -3'
Sequencing Primer
(F):5'- TTTTCTACCCCCAGACTCGAGAAG -3'
(R):5'- CCAGCTGTTGAGATCAAAATAGC -3'
|
Posted On |
2015-06-12 |