Incidental Mutation 'R5932:Yeats2'
| ID |
461960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yeats2
|
| Ensembl Gene |
ENSMUSG00000041215 |
| Gene Name |
YEATS domain containing 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20011913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 496
(E496G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
| AlphaFold |
Q3TUF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090052
AA Change: E499G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: E499G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
179 |
262 |
2.6e-27 |
PFAM |
|
low complexity region
|
299 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
458 |
467 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
471 |
675 |
3.72e-6 |
PROSPERO |
|
low complexity region
|
683 |
702 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
775 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
785 |
978 |
3.72e-6 |
PROSPERO |
|
low complexity region
|
1240 |
1249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115560
AA Change: E552G
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: E552G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YEATS
|
232 |
314 |
2.1e-28 |
PFAM |
|
low complexity region
|
352 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
520 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
524 |
728 |
4.68e-6 |
PROSPERO |
|
low complexity region
|
736 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
828 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
838 |
1031 |
4.68e-6 |
PROSPERO |
|
low complexity region
|
1293 |
1302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232019
AA Change: E514G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
AA Change: E496G
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] YEATS2 is a scaffolding subunit of the ADA2A (TADA2A; MIM 602276)-containing (ATAC) histone acetyltransferase complex (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
All alleles(34) : Targeted(1) Gene trapped(33)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
A |
19: 31,870,518 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,722,585 (GRCm39) |
L890P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,259,932 (GRCm39) |
M49K |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,413,295 (GRCm39) |
N1206K |
probably damaging |
Het |
| Bbs7 |
G |
A |
3: 36,636,847 (GRCm39) |
T480I |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,723,627 (GRCm39) |
E769G |
probably damaging |
Het |
| Bpgm |
T |
A |
6: 34,464,860 (GRCm39) |
S192R |
probably damaging |
Het |
| Brinp1 |
C |
A |
4: 68,711,178 (GRCm39) |
K343N |
probably benign |
Het |
| Cabyr |
T |
G |
18: 12,887,407 (GRCm39) |
V185G |
probably damaging |
Het |
| Cadm1 |
C |
A |
9: 47,710,749 (GRCm39) |
D217E |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,036,347 (GRCm39) |
E171V |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,023,570 (GRCm39) |
M825K |
possibly damaging |
Het |
| Ccdc27 |
A |
G |
4: 154,111,231 (GRCm39) |
V627A |
probably benign |
Het |
| Ccdc40 |
T |
G |
11: 119,141,838 (GRCm39) |
I808R |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,228,763 (GRCm39) |
R1140C |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,916,905 (GRCm39) |
V356A |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,103,509 (GRCm39) |
D167V |
probably damaging |
Het |
| Chmp4b |
C |
T |
2: 154,533,201 (GRCm39) |
T147I |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,415,291 (GRCm39) |
M728K |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,809,279 (GRCm39) |
E2618V |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,274,079 (GRCm39) |
|
probably null |
Het |
| Crls1 |
T |
A |
2: 132,706,087 (GRCm39) |
Y170* |
probably null |
Het |
| Dennd2b |
G |
A |
7: 109,169,223 (GRCm39) |
T24M |
probably damaging |
Het |
| Epas1 |
T |
G |
17: 87,135,074 (GRCm39) |
I569S |
possibly damaging |
Het |
| Fhl3 |
T |
C |
4: 124,599,520 (GRCm39) |
Y32H |
probably damaging |
Het |
| Fibp |
G |
A |
19: 5,514,453 (GRCm39) |
G333D |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,534,650 (GRCm39) |
T156I |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,730,435 (GRCm39) |
L873P |
possibly damaging |
Het |
| Gpr141b |
C |
A |
13: 19,913,646 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd3 |
G |
A |
4: 116,859,470 (GRCm39) |
R698H |
possibly damaging |
Het |
| Il17a |
T |
C |
1: 20,803,977 (GRCm39) |
V124A |
probably damaging |
Het |
| Kif14 |
A |
T |
1: 136,444,128 (GRCm39) |
E1373D |
probably benign |
Het |
| Klra4 |
C |
T |
6: 130,030,016 (GRCm39) |
V190M |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,944 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
GGCCG |
GG |
2: 162,809,256 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,357,810 (GRCm39) |
I111T |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,796,106 (GRCm39) |
D204V |
probably damaging |
Het |
| Mansc1 |
C |
A |
6: 134,587,478 (GRCm39) |
R233L |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,655 (GRCm39) |
C379R |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,912,045 (GRCm39) |
|
probably null |
Het |
| Neu3 |
A |
T |
7: 99,462,525 (GRCm39) |
C399* |
probably null |
Het |
| Or10ad1 |
T |
G |
15: 98,105,296 (GRCm39) |
*323S |
probably null |
Het |
| Or52e8 |
G |
A |
7: 104,624,862 (GRCm39) |
T114M |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,058,748 (GRCm39) |
R310G |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,634,693 (GRCm39) |
F713L |
probably benign |
Het |
| Pdk1 |
T |
A |
2: 71,713,760 (GRCm39) |
|
probably null |
Het |
| Plin4 |
A |
G |
17: 56,413,356 (GRCm39) |
V423A |
possibly damaging |
Het |
| Pstpip1 |
T |
A |
9: 56,033,214 (GRCm39) |
Y249N |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,068,964 (GRCm39) |
C1673S |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,457,677 (GRCm39) |
T230A |
probably benign |
Het |
| Qsox1 |
A |
T |
1: 155,665,079 (GRCm39) |
D287E |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,387 (GRCm39) |
N770D |
probably damaging |
Het |
| Rtp3 |
T |
A |
9: 110,815,760 (GRCm39) |
I202F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,585,248 (GRCm39) |
|
probably null |
Het |
| Spmip7 |
A |
G |
11: 11,438,513 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
C |
G |
11: 30,086,136 (GRCm39) |
V1191L |
probably damaging |
Het |
| Tead2 |
T |
C |
7: 44,882,323 (GRCm39) |
Y121H |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,358,575 (GRCm39) |
L3P |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,934,010 (GRCm39) |
I651T |
probably damaging |
Het |
| Usp2 |
A |
G |
9: 44,003,630 (GRCm39) |
I481V |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,771,611 (GRCm39) |
V4056F |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,820,227 (GRCm39) |
K503E |
probably damaging |
Het |
| Zbtb46 |
A |
G |
2: 181,053,713 (GRCm39) |
L333P |
probably benign |
Het |
| Zfc3h1 |
A |
T |
10: 115,236,815 (GRCm39) |
T430S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,036,803 (GRCm39) |
R368* |
probably null |
Het |
|
| Other mutations in Yeats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Yeats2
|
APN |
16 |
20,005,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01128:Yeats2
|
APN |
16 |
19,980,718 (GRCm39) |
splice site |
probably benign |
|
|
IGL01139:Yeats2
|
APN |
16 |
20,033,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01394:Yeats2
|
APN |
16 |
19,980,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01482:Yeats2
|
APN |
16 |
20,041,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Yeats2
|
APN |
16 |
20,024,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01925:Yeats2
|
APN |
16 |
19,998,430 (GRCm39) |
splice site |
probably benign |
|
|
IGL02106:Yeats2
|
APN |
16 |
20,011,970 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02370:Yeats2
|
APN |
16 |
19,969,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02447:Yeats2
|
APN |
16 |
20,012,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02669:Yeats2
|
APN |
16 |
20,005,033 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03155:Yeats2
|
APN |
16 |
20,048,323 (GRCm39) |
critical splice donor site |
probably null |
|
|
tyrion
|
UTSW |
16 |
20,032,151 (GRCm39) |
splice site |
probably benign |
|
|
P0045:Yeats2
|
UTSW |
16 |
19,975,695 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0051:Yeats2
|
UTSW |
16 |
20,012,474 (GRCm39) |
nonsense |
probably null |
|
|
R0051:Yeats2
|
UTSW |
16 |
20,012,474 (GRCm39) |
nonsense |
probably null |
|
|
R0118:Yeats2
|
UTSW |
16 |
19,975,692 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Yeats2
|
UTSW |
16 |
20,040,427 (GRCm39) |
makesense |
probably null |
|
|
R0184:Yeats2
|
UTSW |
16 |
20,022,435 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0194:Yeats2
|
UTSW |
16 |
19,971,719 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0612:Yeats2
|
UTSW |
16 |
20,005,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Yeats2
|
UTSW |
16 |
20,012,574 (GRCm39) |
nonsense |
probably null |
|
|
R0826:Yeats2
|
UTSW |
16 |
20,011,966 (GRCm39) |
nonsense |
probably null |
|
|
R1526:Yeats2
|
UTSW |
16 |
20,024,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Yeats2
|
UTSW |
16 |
20,008,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1749:Yeats2
|
UTSW |
16 |
20,005,018 (GRCm39) |
nonsense |
probably null |
|
|
R1842:Yeats2
|
UTSW |
16 |
19,989,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Yeats2
|
UTSW |
16 |
20,048,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1926:Yeats2
|
UTSW |
16 |
20,033,176 (GRCm39) |
missense |
probably benign |
|
|
R2000:Yeats2
|
UTSW |
16 |
20,005,141 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2017:Yeats2
|
UTSW |
16 |
19,977,931 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2076:Yeats2
|
UTSW |
16 |
20,005,032 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2153:Yeats2
|
UTSW |
16 |
19,972,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Yeats2
|
UTSW |
16 |
20,032,151 (GRCm39) |
splice site |
probably benign |
|
|
R2981:Yeats2
|
UTSW |
16 |
20,005,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3160:Yeats2
|
UTSW |
16 |
20,012,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Yeats2
|
UTSW |
16 |
20,012,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Yeats2
|
UTSW |
16 |
20,012,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Yeats2
|
UTSW |
16 |
19,969,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4250:Yeats2
|
UTSW |
16 |
19,975,685 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4305:Yeats2
|
UTSW |
16 |
20,027,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4455:Yeats2
|
UTSW |
16 |
19,980,743 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4458:Yeats2
|
UTSW |
16 |
20,032,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Yeats2
|
UTSW |
16 |
19,971,645 (GRCm39) |
splice site |
probably null |
|
|
R4902:Yeats2
|
UTSW |
16 |
20,026,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5043:Yeats2
|
UTSW |
16 |
20,027,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Yeats2
|
UTSW |
16 |
20,027,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Yeats2
|
UTSW |
16 |
20,005,175 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5328:Yeats2
|
UTSW |
16 |
19,989,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Yeats2
|
UTSW |
16 |
19,972,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5416:Yeats2
|
UTSW |
16 |
20,030,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5672:Yeats2
|
UTSW |
16 |
19,980,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5684:Yeats2
|
UTSW |
16 |
20,012,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5946:Yeats2
|
UTSW |
16 |
20,026,513 (GRCm39) |
nonsense |
probably null |
|
|
R6168:Yeats2
|
UTSW |
16 |
19,998,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6169:Yeats2
|
UTSW |
16 |
20,038,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Yeats2
|
UTSW |
16 |
20,033,225 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6371:Yeats2
|
UTSW |
16 |
20,040,460 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6877:Yeats2
|
UTSW |
16 |
19,998,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7149:Yeats2
|
UTSW |
16 |
19,972,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Yeats2
|
UTSW |
16 |
20,041,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Yeats2
|
UTSW |
16 |
20,041,637 (GRCm39) |
nonsense |
probably null |
|
|
R8367:Yeats2
|
UTSW |
16 |
20,041,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Yeats2
|
UTSW |
16 |
20,041,637 (GRCm39) |
nonsense |
probably null |
|
|
R8506:Yeats2
|
UTSW |
16 |
19,971,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8535:Yeats2
|
UTSW |
16 |
19,977,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Yeats2
|
UTSW |
16 |
19,969,260 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8905:Yeats2
|
UTSW |
16 |
20,009,144 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8924:Yeats2
|
UTSW |
16 |
19,969,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9087:Yeats2
|
UTSW |
16 |
20,030,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9276:Yeats2
|
UTSW |
16 |
19,975,786 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9338:Yeats2
|
UTSW |
16 |
20,041,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9338:Yeats2
|
UTSW |
16 |
20,032,078 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9378:Yeats2
|
UTSW |
16 |
20,033,228 (GRCm39) |
missense |
probably benign |
|
|
R9569:Yeats2
|
UTSW |
16 |
19,972,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Yeats2
|
UTSW |
16 |
20,047,491 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAGATGGAATTGCATACCTC -3'
(R):5'- CACATCTCAGAGCTAAGGCC -3'
Sequencing Primer
(F):5'- AGCTTAGAAGATCTCTAGCATTGTGG -3'
(R):5'- TCTCAGAGCTAAGGCCTATTAAAGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation