Incidental Mutation 'R6169:Yeats2'
| ID |
490346 |
| 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 # |
R6169 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20038417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 129
(K129E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
| AlphaFold |
Q3TUF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090052
AA Change: K1092E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: K1092E
| 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 damaging
Transcript: ENSMUST00000115560
AA Change: K1145E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: K1145E
| 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 |
probably damaging
Transcript: ENSMUST00000232019
AA Change: K1107E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232613
AA Change: K129E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232671
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
94% (67/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
C |
A |
11: 3,888,005 (GRCm39) |
C127F |
unknown |
Het |
| 9930111J21Rik2 |
A |
T |
11: 48,910,088 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,918,393 (GRCm39) |
L676* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,378 (GRCm39) |
V5265E |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,189,141 (GRCm39) |
M2185K |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,509,988 (GRCm39) |
V793A |
probably damaging |
Het |
| Arid2 |
T |
A |
15: 96,266,558 (GRCm39) |
N535K |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
| Bbof1 |
C |
T |
12: 84,473,588 (GRCm39) |
T306I |
probably benign |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Ccdc60 |
C |
A |
5: 116,275,131 (GRCm39) |
A351S |
probably benign |
Het |
| Cetn3 |
A |
C |
13: 81,940,097 (GRCm39) |
R44S |
probably damaging |
Het |
| Cluap1 |
A |
G |
16: 3,746,425 (GRCm39) |
K262R |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,004,731 (GRCm39) |
V94I |
probably null |
Het |
| Cog6 |
A |
T |
3: 52,914,722 (GRCm39) |
S245T |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,622,031 (GRCm39) |
V921D |
probably damaging |
Het |
| Entrep2 |
G |
A |
7: 64,409,147 (GRCm39) |
P416S |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,889,863 (GRCm39) |
K504E |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,177,409 (GRCm39) |
|
probably null |
Het |
| Fyb2 |
T |
C |
4: 104,857,713 (GRCm39) |
V630A |
probably benign |
Het |
| Gm43218 |
T |
A |
6: 70,217,606 (GRCm39) |
Y50F |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,779,402 (GRCm39) |
T507A |
probably benign |
Het |
| Gucy2e |
G |
T |
11: 69,126,930 (GRCm39) |
A181E |
probably benign |
Het |
| Hrnr |
C |
G |
3: 93,233,062 (GRCm39) |
S1100* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,817 (GRCm39) |
V3010A |
probably damaging |
Het |
| Ighv1-11 |
T |
C |
12: 114,575,918 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,577 (GRCm39) |
K25E |
possibly damaging |
Het |
| Il6ra |
A |
G |
3: 89,778,598 (GRCm39) |
F417S |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,885,102 (GRCm39) |
S994P |
probably damaging |
Het |
| Itgbl1 |
G |
A |
14: 123,897,790 (GRCm39) |
A24T |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,346,077 (GRCm39) |
F127L |
probably damaging |
Het |
| Itprid2 |
T |
G |
2: 79,475,406 (GRCm39) |
I455R |
probably damaging |
Het |
| Krt86 |
A |
G |
15: 101,374,170 (GRCm39) |
Y243C |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,838,230 (GRCm39) |
W11R |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,536,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Mllt1 |
T |
C |
17: 57,206,822 (GRCm39) |
T341A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,325 (GRCm39) |
E7069G |
unknown |
Het |
| Or1e27-ps1 |
A |
T |
11: 73,556,160 (GRCm39) |
T242S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,479 (GRCm39) |
I175T |
probably benign |
Het |
| Osgep |
A |
G |
14: 51,157,209 (GRCm39) |
V11A |
possibly damaging |
Het |
| Oxld1 |
G |
A |
11: 120,347,675 (GRCm39) |
A174V |
possibly damaging |
Het |
| Pibf1 |
A |
T |
14: 99,350,443 (GRCm39) |
E197V |
probably null |
Het |
| Pkn1 |
G |
A |
8: 84,407,835 (GRCm39) |
Q425* |
probably null |
Het |
| Pramel22 |
T |
C |
4: 143,380,685 (GRCm39) |
Y446C |
probably benign |
Het |
| Prss35 |
T |
C |
9: 86,637,491 (GRCm39) |
I87T |
probably benign |
Het |
| Psmc3 |
T |
C |
2: 90,888,184 (GRCm39) |
F304S |
probably damaging |
Het |
| Psmd11 |
T |
A |
11: 80,351,539 (GRCm39) |
M254K |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,292,385 (GRCm39) |
Y218C |
probably damaging |
Het |
| Sec23b |
C |
T |
2: 144,428,894 (GRCm39) |
R701C |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,848,913 (GRCm39) |
S280P |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,405,044 (GRCm39) |
I212T |
possibly damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,562,388 (GRCm39) |
V255A |
probably damaging |
Het |
| Smc3 |
T |
A |
19: 53,622,517 (GRCm39) |
N697K |
probably benign |
Het |
| Snai1 |
C |
A |
2: 167,380,831 (GRCm39) |
P108Q |
probably benign |
Het |
| Stim2 |
T |
G |
5: 54,276,021 (GRCm39) |
L732R |
probably damaging |
Het |
| Syde1 |
A |
G |
10: 78,421,938 (GRCm39) |
L597S |
probably damaging |
Het |
| Tcte1 |
T |
A |
17: 45,845,996 (GRCm39) |
M200K |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,030,517 (GRCm39) |
T761S |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,262 (GRCm39) |
N261K |
probably benign |
Het |
| Tlr2 |
C |
A |
3: 83,745,455 (GRCm39) |
E209D |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,022,739 (GRCm39) |
L33P |
probably damaging |
Het |
| Trmt1l |
C |
A |
1: 151,304,704 (GRCm39) |
|
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,978,511 (GRCm39) |
S646A |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,910 (GRCm39) |
I12N |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,382 (GRCm39) |
V335A |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,311,878 (GRCm39) |
S762T |
unknown |
Het |
| Zscan4-ps2 |
T |
C |
7: 11,251,558 (GRCm39) |
V198A |
probably benign |
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 |
|
R5932:Yeats2
|
UTSW |
16 |
20,011,913 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5946:Yeats2
|
UTSW |
16 |
20,026,513 (GRCm39) |
nonsense |
probably null |
|
|
R6168:Yeats2
|
UTSW |
16 |
19,998,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGGAAGCTGTTTATTAGTGGAGAG -3'
(R):5'- GCATCTGCTTAGCACACAC -3'
Sequencing Primer
(F):5'- GCTGTTTATTAGTGGAGAGAGAGAG -3'
(R):5'- ACAGGGCTCGCCGTTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation