Incidental Mutation 'R7986:Setd5'
| ID |
651482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
046027-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7986 (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 C
at 113105418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 817
(S817P)
|
| 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: S798P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: S798P
| 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: S817P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: S817P
| 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: S817P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: S817P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
G |
T |
16: 85,596,435 (GRCm39) |
A401D |
probably damaging |
Het |
| Akap10 |
C |
T |
11: 61,820,890 (GRCm39) |
G5R |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,867,967 (GRCm39) |
L1023W |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,799,650 (GRCm39) |
N339S |
probably benign |
Het |
| Btbd17 |
A |
G |
11: 114,683,341 (GRCm39) |
Y124H |
probably damaging |
Het |
| Cacna1a |
C |
G |
8: 85,365,408 (GRCm39) |
R2184G |
probably benign |
Het |
| Cavin1 |
A |
G |
11: 100,861,102 (GRCm39) |
I64T |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,106 (GRCm39) |
H9R |
possibly damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,845,461 (GRCm39) |
L1202P |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,596,048 (GRCm39) |
I794V |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,511,674 (GRCm39) |
|
probably null |
Het |
| Col6a2 |
A |
G |
10: 76,450,972 (GRCm39) |
L23P |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,247,904 (GRCm39) |
H324R |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,087,096 (GRCm39) |
S627P |
probably damaging |
Het |
| Dffb |
G |
A |
4: 154,054,504 (GRCm39) |
S195F |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,337,097 (GRCm39) |
Y219N |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,128,000 (GRCm39) |
H564L |
possibly damaging |
Het |
| Gpt2 |
T |
A |
8: 86,235,839 (GRCm39) |
C158* |
probably null |
Het |
| Grin1 |
G |
T |
2: 25,185,841 (GRCm39) |
A872D |
probably damaging |
Het |
| Hoxa1 |
T |
C |
6: 52,135,018 (GRCm39) |
S62G |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,651 (GRCm39) |
N397D |
probably benign |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Llgl1 |
G |
T |
11: 60,602,221 (GRCm39) |
A755S |
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,448 (GRCm39) |
E141G |
possibly damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,462,890 (GRCm39) |
T910S |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,687,283 (GRCm39) |
Y55C |
probably damaging |
Het |
| Nek10 |
A |
C |
14: 15,001,020 (GRCm38) |
S1067R |
probably benign |
Het |
| Nemp2 |
C |
T |
1: 52,669,981 (GRCm39) |
A22V |
probably benign |
Het |
| Npy2r |
T |
A |
3: 82,448,803 (GRCm39) |
|
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,290,634 (GRCm39) |
S469T |
possibly damaging |
Het |
| Nr4a3 |
T |
C |
4: 48,055,954 (GRCm39) |
Y327H |
probably damaging |
Het |
| Or10ag52 |
A |
G |
2: 87,043,922 (GRCm39) |
I229V |
probably benign |
Het |
| Or5an1b |
C |
T |
19: 12,300,102 (GRCm39) |
V30I |
probably benign |
Het |
| Pramel26 |
A |
T |
4: 143,538,590 (GRCm39) |
L127* |
probably null |
Het |
| Prss1l |
T |
C |
6: 41,373,058 (GRCm39) |
I110T |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,746,046 (GRCm39) |
A118V |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,535,445 (GRCm39) |
Y73C |
|
Het |
| Rtl1 |
A |
G |
12: 109,558,492 (GRCm39) |
S1116P |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,458,344 (GRCm39) |
L303P |
probably benign |
Het |
| Slc46a2 |
G |
T |
4: 59,911,858 (GRCm39) |
F451L |
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,353,449 (GRCm39) |
I219F |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,308,273 (GRCm39) |
I223V |
possibly damaging |
Het |
| Trps1 |
T |
G |
15: 50,525,132 (GRCm39) |
T933P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,753,019 (GRCm39) |
F16S |
probably benign |
Het |
| Virma |
T |
A |
4: 11,540,023 (GRCm39) |
S1447R |
probably benign |
Het |
| Vmn1r230 |
T |
C |
17: 21,067,119 (GRCm39) |
Y103H |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Ybx3 |
T |
A |
6: 131,356,362 (GRCm39) |
R170* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,506,978 (GRCm39) |
D1122G |
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 |
|
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 |
|
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'- CGACCCTGTCTAGAACCTATG -3'
(R):5'- ACTGATCCCTGACTCGAGATC -3'
Sequencing Primer
(F):5'- GACCCTGTCTAGAACCTATGTGAATG -3'
(R):5'- CGAGATCTTTCTCTTCCTCTGTAAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation