Incidental Mutation 'R5582:Setd5'
| ID |
438499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd5
|
| Ensembl Gene |
ENSMUSG00000034269 |
| Gene Name |
SET domain containing 5 |
| Synonyms |
2900045N06Rik |
| MMRRC Submission |
043136-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5582 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
113077365-113153435 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113114925 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 217
(Y217H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042889]
[ENSMUST00000113155]
[ENSMUST00000113157]
|
| AlphaFold |
Q5XJV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042889
AA Change: Y217H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047398
Gene: ENSMUSG00000034269
AA Change: Y217H
| 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: Y236H
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108780
Gene: ENSMUSG00000034269
AA Change: Y236H
| 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: Y236H
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108782
Gene: ENSMUSG00000034269
AA Change: Y236H
| 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: Y459H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142215
AA Change: Y294H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204377
|
| Meta Mutation Damage Score |
0.3196 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (61/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,636,639 (GRCm38) |
|
probably null |
Het |
| Agxt2 |
A |
G |
15: 10,399,159 (GRCm38) |
D444G |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,750 (GRCm38) |
R96L |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,946,305 (GRCm38) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,010,788 (GRCm38) |
Y3090C |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,223,356 (GRCm38) |
S647P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,249,409 (GRCm38) |
Y372C |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,988,173 (GRCm38) |
|
probably null |
Het |
| Cdk5rap1 |
T |
A |
2: 154,345,974 (GRCm38) |
E477D |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,907,518 (GRCm38) |
|
probably benign |
Het |
| Chdh |
A |
G |
14: 30,036,859 (GRCm38) |
Y587C |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,868,035 (GRCm38) |
V472A |
probably damaging |
Het |
| Clasrp |
A |
C |
7: 19,586,856 (GRCm38) |
I326S |
probably damaging |
Het |
| Clic6 |
A |
T |
16: 92,499,454 (GRCm38) |
Q334L |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,392,118 (GRCm38) |
|
probably null |
Het |
| Entpd7 |
T |
C |
19: 43,704,994 (GRCm38) |
I171T |
probably damaging |
Het |
| Fosl1 |
T |
C |
19: 5,455,267 (GRCm38) |
|
probably benign |
Het |
| Gm10130 |
T |
C |
2: 150,363,052 (GRCm38) |
|
probably benign |
Het |
| Gm6124 |
A |
G |
7: 39,220,198 (GRCm38) |
|
noncoding transcript |
Het |
| H3f3a |
A |
T |
1: 180,810,085 (GRCm38) |
|
probably benign |
Het |
| Hs1bp3 |
AGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGGAGGAGGAGG |
12: 8,324,048 (GRCm38) |
|
probably benign |
Het |
| Idh2 |
CCAGGGC |
CC |
7: 80,098,339 (GRCm38) |
|
probably null |
Het |
| Igkv3-7 |
A |
G |
6: 70,608,006 (GRCm38) |
Y110C |
probably damaging |
Het |
| Ints9 |
C |
T |
14: 65,028,896 (GRCm38) |
T399M |
possibly damaging |
Het |
| Kctd19 |
G |
A |
8: 105,408,443 (GRCm38) |
T62M |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,180,644 (GRCm38) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,099,976 (GRCm38) |
|
probably null |
Het |
| Olfr340 |
T |
C |
2: 36,453,221 (GRCm38) |
I212T |
probably benign |
Het |
| Olfr748 |
T |
C |
14: 50,710,968 (GRCm38) |
Y213H |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,339,339 (GRCm38) |
M14K |
unknown |
Het |
| Pibf1 |
C |
T |
14: 99,137,130 (GRCm38) |
A335V |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,040,783 (GRCm38) |
L1256* |
probably null |
Het |
| Plbd2 |
T |
C |
5: 120,493,106 (GRCm38) |
E202G |
probably benign |
Het |
| Ppp1r37 |
A |
G |
7: 19,532,294 (GRCm38) |
S516P |
probably damaging |
Het |
| Ppt2 |
G |
A |
17: 34,617,399 (GRCm38) |
T229M |
probably damaging |
Het |
| Prr14 |
A |
T |
7: 127,476,397 (GRCm38) |
I526F |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,583,139 (GRCm38) |
|
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,565,029 (GRCm38) |
|
probably benign |
Het |
| Senp6 |
T |
A |
9: 80,089,876 (GRCm38) |
D57E |
possibly damaging |
Het |
| Sgcg |
T |
C |
14: 61,225,305 (GRCm38) |
T198A |
probably damaging |
Het |
| Sipa1 |
C |
T |
19: 5,654,701 (GRCm38) |
G622D |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,564,690 (GRCm38) |
A98V |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 73,050,404 (GRCm38) |
P345Q |
probably benign |
Het |
| Slx4 |
T |
C |
16: 3,985,788 (GRCm38) |
D1054G |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,282,361 (GRCm38) |
T898S |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,693,435 (GRCm38) |
P1209S |
probably damaging |
Het |
| Tmem63b |
C |
A |
17: 45,667,763 (GRCm38) |
V294L |
probably benign |
Het |
| Tnks |
G |
A |
8: 34,940,861 (GRCm38) |
R238C |
probably benign |
Het |
| Tsn |
G |
A |
1: 118,305,214 (GRCm38) |
T120I |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,895,980 (GRCm38) |
F479I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,915,407 (GRCm38) |
M849V |
probably benign |
Het |
| Usp13 |
T |
C |
3: 32,911,589 (GRCm38) |
S574P |
probably damaging |
Het |
| Vmn1r69 |
A |
G |
7: 10,580,508 (GRCm38) |
Y20H |
probably damaging |
Het |
| Zfp780b |
T |
A |
7: 27,964,827 (GRCm38) |
N101I |
probably damaging |
Het |
|
| Other mutations in Setd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Setd5
|
APN |
6 |
113,111,414 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02102:Setd5
|
APN |
6 |
113,150,985 (GRCm38) |
nonsense |
probably null |
|
|
IGL02105:Setd5
|
APN |
6 |
113,117,580 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02202:Setd5
|
APN |
6 |
113,151,015 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02221:Setd5
|
APN |
6 |
113,121,170 (GRCm38) |
splice site |
probably benign |
|
|
IGL02382:Setd5
|
APN |
6 |
113,143,640 (GRCm38) |
missense |
probably benign |
|
|
IGL02394:Setd5
|
APN |
6 |
113,110,898 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02442:Setd5
|
APN |
6 |
113,110,380 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02480:Setd5
|
APN |
6 |
113,143,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02940:Setd5
|
APN |
6 |
113,114,938 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0320:Setd5
|
UTSW |
6 |
113,111,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0479:Setd5
|
UTSW |
6 |
113,115,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0514:Setd5
|
UTSW |
6 |
113,119,437 (GRCm38) |
nonsense |
probably null |
|
|
R1528:Setd5
|
UTSW |
6 |
113,121,738 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1530:Setd5
|
UTSW |
6 |
113,109,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2176:Setd5
|
UTSW |
6 |
113,151,153 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2191:Setd5
|
UTSW |
6 |
113,111,429 (GRCm38) |
nonsense |
probably null |
|
|
R2286:Setd5
|
UTSW |
6 |
113,119,610 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4163:Setd5
|
UTSW |
6 |
113,119,584 (GRCm38) |
missense |
probably benign |
|
|
R4294:Setd5
|
UTSW |
6 |
113,111,320 (GRCm38) |
intron |
probably benign |
|
|
R4300:Setd5
|
UTSW |
6 |
113,150,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4342:Setd5
|
UTSW |
6 |
113,111,320 (GRCm38) |
intron |
probably benign |
|
|
R4370:Setd5
|
UTSW |
6 |
113,121,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4854:Setd5
|
UTSW |
6 |
113,151,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4858:Setd5
|
UTSW |
6 |
113,149,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5057:Setd5
|
UTSW |
6 |
113,137,961 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5345:Setd5
|
UTSW |
6 |
113,116,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5529:Setd5
|
UTSW |
6 |
113,121,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5556:Setd5
|
UTSW |
6 |
113,147,502 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5838:Setd5
|
UTSW |
6 |
113,119,435 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5941:Setd5
|
UTSW |
6 |
113,128,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6009:Setd5
|
UTSW |
6 |
113,110,519 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6146:Setd5
|
UTSW |
6 |
113,121,812 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6394:Setd5
|
UTSW |
6 |
113,115,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6694:Setd5
|
UTSW |
6 |
113,143,708 (GRCm38) |
missense |
probably benign |
|
|
R7058:Setd5
|
UTSW |
6 |
113,115,571 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7060:Setd5
|
UTSW |
6 |
113,117,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7199:Setd5
|
UTSW |
6 |
113,121,138 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7238:Setd5
|
UTSW |
6 |
113,121,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7296:Setd5
|
UTSW |
6 |
113,147,557 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7438:Setd5
|
UTSW |
6 |
113,115,082 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R7515:Setd5
|
UTSW |
6 |
113,110,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7621:Setd5
|
UTSW |
6 |
113,144,049 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7652:Setd5
|
UTSW |
6 |
113,121,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7986:Setd5
|
UTSW |
6 |
113,128,457 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8083:Setd5
|
UTSW |
6 |
113,115,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8175:Setd5
|
UTSW |
6 |
113,114,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8252:Setd5
|
UTSW |
6 |
113,150,955 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8268:Setd5
|
UTSW |
6 |
113,149,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8271:Setd5
|
UTSW |
6 |
113,115,070 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8424:Setd5
|
UTSW |
6 |
113,149,683 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8508:Setd5
|
UTSW |
6 |
113,121,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8801:Setd5
|
UTSW |
6 |
113,150,892 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8864:Setd5
|
UTSW |
6 |
113,111,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9227:Setd5
|
UTSW |
6 |
113,121,794 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9522:Setd5
|
UTSW |
6 |
113,115,034 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9588:Setd5
|
UTSW |
6 |
113,144,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9660:Setd5
|
UTSW |
6 |
113,151,405 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9711:Setd5
|
UTSW |
6 |
113,116,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9728:Setd5
|
UTSW |
6 |
113,151,405 (GRCm38) |
missense |
probably benign |
0.13 |
|
X0017:Setd5
|
UTSW |
6 |
113,150,168 (GRCm38) |
missense |
probably null |
1.00 |
|
Z1176:Setd5
|
UTSW |
6 |
113,138,096 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Setd5
|
UTSW |
6 |
113,114,996 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCATGAAACCAGTAATGGATG -3'
(R):5'- AGCTCTTACCTGCATTTGGGAAC -3'
Sequencing Primer
(F):5'- TTGAAGGTGTCCAAGACCTC -3'
(R):5'- GGTTTGCCCACAAATTCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation