Incidental Mutation 'R2000:Yeats2'
ID |
225862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yeats2
|
Ensembl Gene |
ENSMUSG00000041215 |
Gene Name |
YEATS domain containing 2 |
Synonyms |
|
MMRRC Submission |
040010-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R2000 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20005141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 393
(A393T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
AlphaFold |
Q3TUF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090052
AA Change: A377T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000087506 Gene: ENSMUSG00000041215 AA Change: A377T
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: A430T
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000111222 Gene: ENSMUSG00000041215 AA Change: A430T
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: ENSMUST00000231861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232019
AA Change: A393T
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
AA Change: A374T
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
Meta Mutation Damage Score |
0.0586 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (62/63) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf2 |
T |
C |
2: 73,693,584 (GRCm39) |
|
probably null |
Het |
Atrn |
T |
C |
2: 130,777,508 (GRCm39) |
Y186H |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,911,614 (GRCm39) |
V1528A |
possibly damaging |
Het |
Brpf3 |
A |
C |
17: 29,040,531 (GRCm39) |
E984A |
probably benign |
Het |
Btnl9 |
T |
C |
11: 49,059,948 (GRCm39) |
N600S |
probably benign |
Het |
Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
Casp8ap2 |
T |
A |
4: 32,634,874 (GRCm39) |
L136H |
probably damaging |
Het |
Cd46 |
A |
G |
1: 194,760,012 (GRCm39) |
I280T |
probably benign |
Het |
Cip2a |
A |
T |
16: 48,835,332 (GRCm39) |
Q699L |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,902,116 (GRCm39) |
H2374Q |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,870,160 (GRCm39) |
|
probably benign |
Het |
Dph7 |
T |
A |
2: 24,861,653 (GRCm39) |
D355E |
probably benign |
Het |
Dync1li1 |
C |
A |
9: 114,542,631 (GRCm39) |
F264L |
probably benign |
Het |
Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
Fosl1 |
A |
G |
19: 5,500,383 (GRCm39) |
|
probably benign |
Het |
Gabrr2 |
T |
A |
4: 33,084,400 (GRCm39) |
I162N |
probably damaging |
Het |
Gata6 |
T |
C |
18: 11,054,113 (GRCm39) |
F14S |
probably benign |
Het |
Gm15446 |
T |
C |
5: 110,090,677 (GRCm39) |
S310P |
possibly damaging |
Het |
Gmppa |
A |
C |
1: 75,418,172 (GRCm39) |
D190A |
probably damaging |
Het |
Gpr108 |
C |
T |
17: 57,543,712 (GRCm39) |
G455S |
probably benign |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Gvin-ps6 |
G |
A |
7: 106,022,438 (GRCm39) |
S188L |
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,526,531 (GRCm39) |
I334T |
probably benign |
Het |
Hadh |
A |
T |
3: 131,038,888 (GRCm39) |
I156K |
probably benign |
Het |
Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
Ice1 |
C |
T |
13: 70,750,546 (GRCm39) |
V47M |
possibly damaging |
Het |
Ifnl3 |
G |
T |
7: 28,222,354 (GRCm39) |
A32S |
possibly damaging |
Het |
Itsn2 |
T |
A |
12: 4,716,176 (GRCm39) |
Y978* |
probably null |
Het |
Kif1a |
G |
T |
1: 92,982,051 (GRCm39) |
T792N |
probably damaging |
Het |
Lgals9 |
T |
C |
11: 78,863,996 (GRCm39) |
N50D |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,297,434 (GRCm39) |
Y3176H |
probably damaging |
Het |
Lvrn |
A |
T |
18: 47,038,374 (GRCm39) |
N976I |
probably benign |
Het |
Magea10 |
A |
T |
X: 71,426,379 (GRCm39) |
I205K |
probably benign |
Het |
Myo1c |
A |
T |
11: 75,561,405 (GRCm39) |
M820L |
probably damaging |
Het |
Neb |
A |
T |
2: 52,102,982 (GRCm39) |
C4222* |
probably null |
Het |
Nkain2 |
T |
A |
10: 32,766,281 (GRCm39) |
|
probably benign |
Het |
Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
Pnma8a |
T |
A |
7: 16,694,964 (GRCm39) |
V273D |
probably benign |
Het |
Ppp1r9b |
A |
G |
11: 94,887,446 (GRCm39) |
E486G |
probably damaging |
Het |
Pth2 |
C |
A |
7: 44,831,146 (GRCm39) |
R98S |
possibly damaging |
Het |
Ramacl |
A |
T |
13: 67,056,214 (GRCm39) |
N69I |
possibly damaging |
Het |
Rif1 |
T |
A |
2: 51,971,310 (GRCm39) |
F263I |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,326,848 (GRCm39) |
I1613F |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
Rtl1 |
C |
A |
12: 109,560,321 (GRCm39) |
W506L |
probably damaging |
Het |
Slc4a4 |
C |
T |
5: 89,176,206 (GRCm39) |
P59L |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,050,200 (GRCm39) |
E273G |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Ttf1 |
T |
A |
2: 28,955,197 (GRCm39) |
L187Q |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Ufsp1 |
T |
C |
5: 137,293,166 (GRCm39) |
|
probably null |
Het |
Uox |
A |
C |
3: 146,316,154 (GRCm39) |
K30Q |
possibly damaging |
Het |
Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
Wwc1 |
A |
T |
11: 35,767,374 (GRCm39) |
L419Q |
probably damaging |
Het |
Xrn1 |
C |
T |
9: 95,927,616 (GRCm39) |
Q1463* |
probably null |
Het |
Zfp101 |
C |
T |
17: 33,600,491 (GRCm39) |
A422T |
possibly damaging |
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 |
|
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 |
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'- AAAGCTGGAAGATGGTTCATTG -3'
(R):5'- TGGCAGTGTAGAAGCATCTC -3'
Sequencing Primer
(F):5'- AGCTGGAAGATGGTTCATTGTAATTG -3'
(R):5'- TGTAGAAGCATCTCCGAGCTG -3'
|
Posted On |
2014-08-25 |