Incidental Mutation 'R7405:Yeats2'
ID |
574540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yeats2
|
Ensembl Gene |
ENSMUSG00000041215 |
Gene Name |
YEATS domain containing 2 |
Synonyms |
|
MMRRC Submission |
045376-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R7405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 20041663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1184
(D1184E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
AlphaFold |
Q3TUF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090052
AA Change: D1184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087506 Gene: ENSMUSG00000041215 AA Change: D1184E
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: D1237E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111222 Gene: ENSMUSG00000041215 AA Change: D1237E
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: D1199E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232613
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,649 (GRCm39) |
V383L |
probably damaging |
Het |
4930507D05Rik |
C |
A |
10: 62,285,563 (GRCm39) |
H96N |
unknown |
Het |
5730480H06Rik |
T |
C |
5: 48,545,458 (GRCm39) |
I235T |
possibly damaging |
Het |
Abcb11 |
A |
G |
2: 69,117,963 (GRCm39) |
Y472H |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,659 (GRCm39) |
I17L |
probably benign |
Het |
Aire |
T |
C |
10: 77,870,447 (GRCm39) |
H458R |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,577,734 (GRCm39) |
D31G |
probably benign |
Het |
Atad2b |
T |
A |
12: 4,993,232 (GRCm39) |
H250Q |
probably benign |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Borcs5 |
C |
A |
6: 134,662,945 (GRCm39) |
T74N |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,407,586 (GRCm39) |
T292I |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Cfap107 |
T |
C |
4: 144,146,323 (GRCm39) |
N110S |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,921 (GRCm39) |
F462S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,700,789 (GRCm39) |
S153G |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,993 (GRCm39) |
C328R |
possibly damaging |
Het |
Ddr1 |
A |
G |
17: 36,000,992 (GRCm39) |
V251A |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,221,986 (GRCm39) |
F475L |
probably damaging |
Het |
Dkk4 |
G |
A |
8: 23,115,859 (GRCm39) |
V99M |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,600,654 (GRCm39) |
A1938V |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,081,238 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
T |
A |
10: 85,880,445 (GRCm39) |
Y377N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,136 (GRCm39) |
I299V |
possibly damaging |
Het |
Fkbp10 |
C |
T |
11: 100,306,707 (GRCm39) |
A33V |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,850 (GRCm39) |
T87A |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
T |
5: 110,356,312 (GRCm39) |
I1000F |
probably damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,199 (GRCm39) |
I563T |
probably benign |
Het |
Gsx1 |
T |
C |
5: 147,125,943 (GRCm39) |
S82P |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,583,819 (GRCm39) |
K34E |
possibly damaging |
Het |
Kank1 |
T |
A |
19: 25,387,683 (GRCm39) |
L452* |
probably null |
Het |
Lce1k |
A |
T |
3: 92,714,181 (GRCm39) |
M1K |
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,969,868 (GRCm39) |
I185T |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,417,620 (GRCm39) |
D1046G |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,987 (GRCm39) |
Y1994N |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,238,815 (GRCm39) |
D496E |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,321 (GRCm39) |
S925F |
possibly damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,360 (GRCm39) |
G88D |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,358,648 (GRCm39) |
V783A |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,156,618 (GRCm39) |
W778R |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,712,687 (GRCm39) |
L2130P |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,476,865 (GRCm39) |
N30S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,162,253 (GRCm39) |
V299A |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,606,320 (GRCm39) |
D474G |
probably benign |
Het |
Or10ag56 |
A |
C |
2: 87,139,339 (GRCm39) |
I89L |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,246 (GRCm39) |
V151A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,899 (GRCm39) |
F370I |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,531 (GRCm39) |
V164A |
probably benign |
Het |
Pgap2 |
T |
C |
7: 101,880,595 (GRCm39) |
V41A |
probably benign |
Het |
Plekhh1 |
C |
T |
12: 79,101,821 (GRCm39) |
T297I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,173,254 (GRCm39) |
Y1226N |
probably benign |
Het |
Polr3b |
A |
G |
10: 84,520,043 (GRCm39) |
D653G |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,104,486 (GRCm39) |
F289L |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,435,524 (GRCm39) |
S82P |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,531 (GRCm39) |
V37D |
probably damaging |
Het |
Rasa2 |
G |
A |
9: 96,448,080 (GRCm39) |
P526S |
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,183,838 (GRCm39) |
I255N |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,853,717 (GRCm39) |
T296S |
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,549,167 (GRCm39) |
I316F |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,766,884 (GRCm39) |
V134D |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,604,161 (GRCm39) |
S2T |
probably benign |
Het |
Slc9a4 |
C |
T |
1: 40,640,086 (GRCm39) |
R293C |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
G |
1: 161,655,783 (GRCm39) |
F1039L |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,832,543 (GRCm39) |
Y208H |
possibly damaging |
Het |
Tpr |
T |
C |
1: 150,317,878 (GRCm39) |
S2129P |
probably benign |
Het |
Trim34b |
T |
A |
7: 103,985,690 (GRCm39) |
S442T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,573,690 (GRCm39) |
Y25734* |
probably null |
Het |
Uchl5 |
C |
T |
1: 143,675,752 (GRCm39) |
Q276* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Zfat |
G |
A |
15: 68,056,334 (GRCm39) |
R241W |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,477,968 (GRCm39) |
Y48* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,118 (GRCm39) |
Q455R |
unknown |
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 |
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 |
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'- TGGTTTATTTCAGTGCACGAC -3'
(R):5'- ATAGTTCTGAAGGGCTGTGC -3'
Sequencing Primer
(F):5'- TCCTTTTTAAGTGGCAAAGAGC -3'
(R):5'- CTGGGGTGTCATGGTAAGAAG -3'
|
Posted On |
2019-09-13 |