Incidental Mutation 'R9728:Setd5'
| ID |
731156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113054326-113130393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 113128366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1440
(V1440L)
|
| 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: V1421L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: V1421L
| 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: V1440L
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: V1440L
| 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: V1440L
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: V1440L
| 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: 98.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
G |
A |
9: 95,797,050 (GRCm39) |
A1698T |
probably benign |
Het |
| Caml |
T |
A |
13: 55,779,670 (GRCm39) |
S248T |
possibly damaging |
Het |
| Copg1 |
A |
G |
6: 87,879,225 (GRCm39) |
I424V |
probably damaging |
Het |
| Cwh43 |
A |
T |
5: 73,565,629 (GRCm39) |
N65Y |
possibly damaging |
Het |
| Defb1 |
A |
G |
8: 22,284,486 (GRCm39) |
Y35C |
probably damaging |
Het |
| Disc1 |
A |
T |
8: 125,959,795 (GRCm39) |
E769V |
probably null |
Het |
| Egln1 |
G |
A |
8: 125,675,093 (GRCm39) |
T234I |
possibly damaging |
Het |
| Esco2 |
A |
T |
14: 66,069,069 (GRCm39) |
F80L |
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,564,052 (GRCm39) |
A152T |
probably benign |
Het |
| Gcc1 |
T |
C |
6: 28,420,544 (GRCm39) |
R258G |
probably damaging |
Het |
| Gm19410 |
A |
G |
8: 36,247,594 (GRCm39) |
T469A |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,689 (GRCm39) |
Q219H |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,950,144 (GRCm39) |
N72S |
probably damaging |
Het |
| Hps3 |
C |
A |
3: 20,065,128 (GRCm39) |
A771S |
probably benign |
Het |
| Igkv12-46 |
G |
T |
6: 69,741,967 (GRCm39) |
P4T |
possibly damaging |
Het |
| Iqcf5 |
A |
T |
9: 106,393,168 (GRCm39) |
I142L |
probably damaging |
Het |
| Kcna10 |
A |
T |
3: 107,101,513 (GRCm39) |
N48I |
possibly damaging |
Het |
| Klhdc9 |
A |
G |
1: 171,187,357 (GRCm39) |
S214P |
probably damaging |
Het |
| Knop1 |
C |
T |
7: 118,451,840 (GRCm39) |
S293N |
|
Het |
| Lgr6 |
A |
G |
1: 134,915,245 (GRCm39) |
L778P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,618,228 (GRCm39) |
N909S |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,966,098 (GRCm39) |
G240D |
|
Het |
| Miox |
A |
T |
15: 89,218,703 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,223,924 (GRCm39) |
Y128C |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,915 (GRCm39) |
Y178N |
probably damaging |
Het |
| Or14a259 |
A |
G |
7: 86,012,771 (GRCm39) |
L258P |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,887 (GRCm39) |
N206S |
possibly damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,636 (GRCm39) |
M273K |
possibly damaging |
Het |
| Pde11a |
C |
A |
2: 76,121,608 (GRCm39) |
L324F |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,639 (GRCm39) |
V1568A |
probably damaging |
Het |
| Ralgps1 |
C |
T |
2: 33,163,626 (GRCm39) |
V144M |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,040,856 (GRCm39) |
V1001E |
probably benign |
Het |
| Sapcd2 |
C |
A |
2: 25,262,669 (GRCm39) |
A76D |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,790,422 (GRCm39) |
I701T |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,187 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,106,142 (GRCm39) |
K337E |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc23a2 |
G |
T |
2: 131,900,130 (GRCm39) |
N568K |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,962,842 (GRCm39) |
R330G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,707 (GRCm39) |
G861D |
probably damaging |
Het |
| Sun5 |
T |
A |
2: 153,709,466 (GRCm39) |
M75L |
probably benign |
Het |
| Syde1 |
AGCCCGAAAACACGGGGCTCTGC |
AGC |
10: 78,424,638 (GRCm39) |
|
probably null |
Het |
| Synrg |
A |
G |
11: 83,915,117 (GRCm39) |
Y963C |
probably damaging |
Het |
| Tdpoz6 |
A |
T |
3: 93,599,807 (GRCm39) |
C187* |
probably null |
Het |
| Trbv15 |
A |
T |
6: 41,118,550 (GRCm39) |
E102V |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,973,395 (GRCm39) |
H113N |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,726,193 (GRCm39) |
D381Y |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,534,671 (GRCm39) |
H190R |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,978,448 (GRCm39) |
L667I |
probably benign |
Het |
| Vav1 |
A |
G |
17: 57,612,459 (GRCm39) |
D570G |
probably benign |
Het |
| Vmn1r214 |
T |
C |
13: 23,219,007 (GRCm39) |
V167A |
probably benign |
Het |
| Vmn2r112 |
G |
A |
17: 22,824,108 (GRCm39) |
M454I |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,568,670 (GRCm39) |
L398I |
possibly damaging |
Het |
| Zfp13 |
C |
T |
17: 23,799,788 (GRCm39) |
R107K |
possibly damaging |
Het |
| Zfp318 |
G |
A |
17: 46,707,713 (GRCm39) |
R257Q |
probably benign |
Het |
| Zfp9 |
G |
T |
6: 118,443,851 (GRCm39) |
A58E |
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 |
|
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 |
|
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'- TCAGTCCAGCACAGGAACTC -3'
(R):5'- GTCATGACCACAAGTCTCATTTC -3'
Sequencing Primer
(F):5'- AACTCTGAGTTCCACCTCCTTTC -3'
(R):5'- AAGTCTCATTTCTTGCTGACCAGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation