Incidental Mutation 'R2167:Yeats2'
ID |
235573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yeats2
|
Ensembl Gene |
ENSMUSG00000041215 |
Gene Name |
YEATS domain containing 2 |
Synonyms |
|
MMRRC Submission |
040170-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R2167 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 20032151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
AlphaFold |
Q3TUF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090052
|
SMART Domains |
Protein: ENSMUSP00000087506 Gene: ENSMUSG00000041215
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
|
SMART Domains |
Protein: ENSMUSP00000111222 Gene: ENSMUSG00000041215
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 benign
Transcript: ENSMUST00000232019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232613
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (57/58) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,238,532 (GRCm39) |
T710M |
probably benign |
Het |
Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
Acsl1 |
A |
G |
8: 46,986,627 (GRCm39) |
D638G |
possibly damaging |
Het |
Acsl6 |
C |
A |
11: 54,217,983 (GRCm39) |
T207K |
probably benign |
Het |
Ahnak |
A |
T |
19: 8,988,858 (GRCm39) |
K3381* |
probably null |
Het |
Art1 |
T |
C |
7: 101,756,031 (GRCm39) |
V74A |
probably damaging |
Het |
Bhmt2 |
A |
T |
13: 93,799,012 (GRCm39) |
W270R |
probably benign |
Het |
Calm2 |
T |
C |
17: 87,742,573 (GRCm39) |
T118A |
probably benign |
Het |
Ccdc88b |
G |
T |
19: 6,831,452 (GRCm39) |
Q497K |
possibly damaging |
Het |
Ccne2 |
A |
T |
4: 11,197,249 (GRCm39) |
M183L |
probably benign |
Het |
Cdc42bpg |
A |
G |
19: 6,367,707 (GRCm39) |
I1026V |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,509 (GRCm39) |
T768A |
probably damaging |
Het |
Cog5 |
T |
C |
12: 31,887,288 (GRCm39) |
F470L |
probably damaging |
Het |
Cpne5 |
T |
C |
17: 29,381,306 (GRCm39) |
D374G |
probably damaging |
Het |
Disp2 |
A |
C |
2: 118,622,166 (GRCm39) |
E966A |
probably damaging |
Het |
Dmrtc2 |
C |
T |
7: 24,573,344 (GRCm39) |
|
probably benign |
Het |
Eif2b3 |
T |
A |
4: 116,885,737 (GRCm39) |
I93N |
probably damaging |
Het |
Elfn2 |
C |
A |
15: 78,556,646 (GRCm39) |
V634L |
probably benign |
Het |
Fasl |
T |
G |
1: 161,614,707 (GRCm39) |
S119R |
probably benign |
Het |
Foxp2 |
C |
G |
6: 15,437,901 (GRCm39) |
P701A |
probably damaging |
Het |
Helz |
T |
A |
11: 107,563,790 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
T |
C |
14: 8,222,683 (GRCm38) |
V175A |
probably benign |
Het |
Leo1 |
A |
G |
9: 75,352,991 (GRCm39) |
N178S |
probably benign |
Het |
Lhx6 |
C |
A |
2: 35,993,371 (GRCm39) |
R80L |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,499,216 (GRCm39) |
L406P |
probably damaging |
Het |
Mapkap1 |
T |
C |
2: 34,487,494 (GRCm39) |
F231L |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,504,535 (GRCm39) |
Y256H |
probably damaging |
Het |
Msh6 |
A |
G |
17: 88,296,911 (GRCm39) |
T1203A |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,467,376 (GRCm39) |
Y604C |
probably damaging |
Het |
Ncam1 |
G |
T |
9: 49,479,781 (GRCm39) |
Q66K |
probably benign |
Het |
Nsd2 |
T |
A |
5: 34,040,263 (GRCm39) |
H933Q |
probably damaging |
Het |
Or10h5 |
T |
A |
17: 33,434,542 (GRCm39) |
I262F |
probably damaging |
Het |
Or13p3 |
T |
C |
4: 118,567,252 (GRCm39) |
V216A |
probably benign |
Het |
Or2d3c |
A |
G |
7: 106,525,797 (GRCm39) |
Y290H |
probably damaging |
Het |
Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rassf6 |
C |
T |
5: 90,751,797 (GRCm39) |
E308K |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,449,091 (GRCm39) |
T680A |
probably damaging |
Het |
Rfpl4 |
T |
A |
7: 5,113,852 (GRCm39) |
I104F |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnase6 |
A |
C |
14: 51,367,974 (GRCm39) |
D122A |
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sec31b |
G |
A |
19: 44,531,792 (GRCm39) |
T39I |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,015,601 (GRCm39) |
I385V |
probably damaging |
Het |
Slc6a17 |
A |
T |
3: 107,398,817 (GRCm39) |
Y261* |
probably null |
Het |
Supt6 |
G |
A |
11: 78,098,993 (GRCm39) |
P1626L |
possibly damaging |
Het |
Tbx15 |
A |
G |
3: 99,233,771 (GRCm39) |
|
probably benign |
Het |
Telo2 |
A |
G |
17: 25,329,792 (GRCm39) |
V240A |
probably benign |
Het |
Trhr |
C |
T |
15: 44,092,638 (GRCm39) |
L292F |
probably damaging |
Het |
Trps1 |
G |
A |
15: 50,695,126 (GRCm39) |
L340F |
possibly damaging |
Het |
Ube2e1 |
T |
C |
14: 18,284,429 (GRCm38) |
|
probably benign |
Het |
Zbtb39 |
G |
A |
10: 127,578,844 (GRCm39) |
E473K |
probably benign |
Het |
Zfp235 |
T |
A |
7: 23,840,387 (GRCm39) |
S269T |
possibly damaging |
Het |
Zfp580 |
C |
A |
7: 5,056,063 (GRCm39) |
P141Q |
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 |
|
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 |
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'- GCACTGCTTGTGGGAGAAAC -3'
(R):5'- ACATCTTTAGAAATGGGCAGACAG -3'
Sequencing Primer
(F):5'- CTTGTGGGAGAAACTGGGAGTG -3'
(R):5'- TGAGTTAAATCCCTGGGACCTAC -3'
|
Posted On |
2014-10-01 |