Incidental Mutation 'R5345:Setd5'
ID |
500957 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd5
|
Ensembl Gene |
ENSMUSG00000034269 |
Gene Name |
SET domain containing 5 |
Synonyms |
2900045N06Rik |
MMRRC Submission |
042924-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113092968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 340
(P340L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
AlphaFold |
Q5XJV7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042889
AA Change: P321L
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047398 Gene: ENSMUSG00000034269 AA Change: P321L
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: P340L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108780 Gene: ENSMUSG00000034269 AA Change: P340L
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: P340L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108782 Gene: ENSMUSG00000034269 AA Change: P340L
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
AA Change: P563L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142215
AA Change: P398L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204377
|
Meta Mutation Damage Score |
0.4971 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
98% (65/66) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
T |
A |
2: 31,687,059 (GRCm39) |
S519T |
probably damaging |
Het |
Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
Acot1 |
T |
A |
12: 84,063,942 (GRCm39) |
I350N |
probably damaging |
Het |
Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
Ankar |
A |
G |
1: 72,709,310 (GRCm39) |
M735T |
possibly damaging |
Het |
Cacna1c |
A |
G |
6: 118,633,497 (GRCm39) |
|
probably null |
Het |
Cdc25b |
A |
G |
2: 131,034,516 (GRCm39) |
S222G |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,709,323 (GRCm39) |
S1390P |
probably damaging |
Het |
Clca4a |
T |
G |
3: 144,676,222 (GRCm39) |
D104A |
probably damaging |
Het |
Clcn6 |
A |
T |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
Coq8b |
A |
G |
7: 26,949,773 (GRCm39) |
T320A |
probably benign |
Het |
Cspg5 |
A |
T |
9: 110,075,698 (GRCm39) |
M145L |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,614,676 (GRCm39) |
I284F |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,985,947 (GRCm39) |
I565V |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,688,471 (GRCm39) |
N410S |
probably damaging |
Het |
Gabrb2 |
C |
T |
11: 42,517,636 (GRCm39) |
A448V |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,402,037 (GRCm39) |
D375G |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,722,783 (GRCm39) |
V1073A |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,613,078 (GRCm39) |
T139A |
probably benign |
Het |
L1td1 |
G |
A |
4: 98,624,684 (GRCm39) |
G293D |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,124,558 (GRCm39) |
M2873V |
probably benign |
Het |
Msantd5f6 |
A |
T |
4: 73,319,514 (GRCm39) |
W77R |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,388,364 (GRCm39) |
R1960G |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,367,369 (GRCm39) |
|
probably null |
Het |
Ndufb4 |
A |
G |
16: 37,474,540 (GRCm39) |
|
probably null |
Het |
Nup153 |
A |
T |
13: 46,840,341 (GRCm39) |
L1089* |
probably null |
Het |
Or10g3 |
G |
A |
14: 52,609,725 (GRCm39) |
R262* |
probably null |
Het |
Or2l13b |
T |
A |
16: 19,349,527 (GRCm39) |
I48F |
probably damaging |
Het |
Or5aq1b |
A |
G |
2: 86,901,836 (GRCm39) |
V214A |
possibly damaging |
Het |
P2rx1 |
A |
G |
11: 72,900,056 (GRCm39) |
T158A |
probably damaging |
Het |
Park7 |
A |
G |
4: 150,992,880 (GRCm39) |
|
probably benign |
Het |
Parl |
A |
T |
16: 20,116,892 (GRCm39) |
F102I |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,685,831 (GRCm39) |
H720L |
probably benign |
Het |
Ptpn4 |
A |
G |
1: 119,693,207 (GRCm39) |
S140P |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,462 (GRCm39) |
S524P |
probably benign |
Het |
Ripply2 |
A |
G |
9: 86,901,779 (GRCm39) |
|
probably null |
Het |
Rmc1 |
C |
T |
18: 12,312,234 (GRCm39) |
T158M |
probably benign |
Het |
Rps4l-ps |
T |
C |
7: 114,526,433 (GRCm39) |
|
noncoding transcript |
Het |
Rtn4ip1 |
T |
C |
10: 43,808,466 (GRCm39) |
L81P |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,781,251 (GRCm39) |
L138P |
probably benign |
Het |
Scp2 |
A |
T |
4: 107,912,776 (GRCm39) |
|
probably null |
Het |
Sec24c |
T |
A |
14: 20,743,288 (GRCm39) |
M970K |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,483,218 (GRCm39) |
M61K |
probably damaging |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
Slc34a1 |
A |
G |
13: 55,548,331 (GRCm39) |
R21G |
probably benign |
Het |
Slc7a14 |
A |
C |
3: 31,278,006 (GRCm39) |
L533W |
probably damaging |
Het |
Srsf9 |
A |
G |
5: 115,468,595 (GRCm39) |
D77G |
probably benign |
Het |
Tab1 |
A |
T |
15: 80,034,014 (GRCm39) |
E119V |
possibly damaging |
Het |
Tcstv5 |
A |
T |
13: 120,411,384 (GRCm39) |
V74E |
probably damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,113 (GRCm39) |
A757V |
possibly damaging |
Het |
Tradd |
A |
T |
8: 105,986,556 (GRCm39) |
I72N |
probably damaging |
Het |
Trbv12-1 |
C |
T |
6: 41,090,781 (GRCm39) |
T51M |
probably benign |
Het |
Tsga10 |
T |
C |
1: 37,802,392 (GRCm39) |
K605E |
probably damaging |
Het |
Vwc2l |
A |
G |
1: 70,768,077 (GRCm39) |
D47G |
probably damaging |
Het |
Zfp647 |
T |
A |
15: 76,795,695 (GRCm39) |
T322S |
possibly damaging |
Het |
Zscan20 |
A |
C |
4: 128,481,914 (GRCm39) |
S583A |
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 |
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'- GGGCAAATAAATCTGCAAATCGTG -3'
(R):5'- ATTAAACATGTCCTTTGATGGCTCC -3'
Sequencing Primer
(F):5'- ACACTAGTGATGACTCCTTTCCAAG -3'
(R):5'- CCTTTGATGGCTCCATTGAAAG -3'
|
Posted On |
2017-12-01 |