Incidental Mutation 'IGL01394:Yeats2'
ID |
79367 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Yeats2
|
Ensembl Gene |
ENSMUSG00000041215 |
Gene Name |
YEATS domain containing 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL01394
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19980782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 237
(V237A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111222
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000231705]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
AlphaFold |
Q3TUF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090052
AA Change: V184A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087506 Gene: ENSMUSG00000041215 AA Change: V184A
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: V237A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000111222 Gene: ENSMUSG00000041215 AA Change: V237A
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: ENSMUST00000231705
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232019
AA Change: V200A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232338
AA Change: V181A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
Bmpr1b |
A |
G |
3: 141,568,742 (GRCm39) |
|
probably null |
Het |
Ccdc83 |
T |
C |
7: 89,873,209 (GRCm39) |
E382G |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
Fscb |
A |
T |
12: 64,520,578 (GRCm39) |
I296K |
possibly damaging |
Het |
Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,313,676 (GRCm39) |
D1369G |
probably benign |
Het |
Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
Myrfl |
T |
C |
10: 116,658,592 (GRCm39) |
Q455R |
probably benign |
Het |
Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
probably 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 |
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 |
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 |
|
|
Posted On |
2013-11-05 |