Incidental Mutation 'R8271:Setd5'
| ID |
637710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
067652-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113092031 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
| 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: I265T
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: I265T
| 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 |
possibly damaging
Transcript: ENSMUST00000113155
AA Change: I284T
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: I284T
| 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 |
possibly damaging
Transcript: ENSMUST00000113157
AA Change: I284T
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: I284T
| 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 |
|
| Meta Mutation Damage Score |
0.1433 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
| Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
| Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
| Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
| Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
| Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
| Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
| Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
| Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
| Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
| Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
| Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
| Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
| Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
| Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
| Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
| Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
| Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
| Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
| Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
|
|
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'- ATTCTCCCTCGGAAGCACAG -3'
(R):5'- CATGTGCCTAGACAGTTTAGTTAC -3'
Sequencing Primer
(F):5'- TTCTCCCTCGGAAGCACAGAATTTAG -3'
(R):5'- TCAGCAGGAAGGTAGTTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation