Incidental Mutation 'R2076:Yeats2'
| ID |
229184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yeats2
|
| Ensembl Gene |
ENSMUSG00000041215 |
| Gene Name |
YEATS domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
040081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20141063-20232573 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 20186282 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 356
(H356Q)
|
| 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: H340Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: H340Q
| 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: H393Q
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: H393Q
| 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 |
possibly damaging
Transcript: ENSMUST00000232019
AA Change: H356Q
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
AA Change: H337Q
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1001 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,287,652 (GRCm38) |
V1165D |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,770,713 (GRCm38) |
H103R |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,893,223 (GRCm38) |
E140* |
probably null |
Het |
| Bicdl1 |
A |
T |
5: 115,655,928 (GRCm38) |
I253N |
probably damaging |
Het |
| Ccdc159 |
T |
C |
9: 21,929,506 (GRCm38) |
|
probably null |
Het |
| Ccne2 |
A |
G |
4: 11,197,177 (GRCm38) |
R160G |
probably damaging |
Het |
| Cct7 |
A |
T |
6: 85,468,140 (GRCm38) |
I458F |
probably damaging |
Het |
| Cd3g |
T |
A |
9: 44,974,297 (GRCm38) |
D50V |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,019,028 (GRCm38) |
L461P |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,219,257 (GRCm38) |
D1763E |
possibly damaging |
Het |
| Csn2 |
A |
G |
5: 87,696,174 (GRCm38) |
S19P |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,879,766 (GRCm38) |
V4D |
probably benign |
Het |
| Ddx3y |
A |
G |
Y: 1,266,593 (GRCm38) |
|
probably null |
Het |
| Dipk1c |
G |
T |
18: 84,736,908 (GRCm38) |
D170Y |
probably damaging |
Het |
| Dlgap1 |
C |
T |
17: 70,786,831 (GRCm38) |
Q716* |
probably null |
Het |
| Dlx6 |
A |
G |
6: 6,867,098 (GRCm38) |
S234G |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,503,809 (GRCm38) |
T2401A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,242,321 (GRCm38) |
Y2847* |
probably null |
Het |
| Dpysl2 |
A |
G |
14: 66,865,122 (GRCm38) |
S30P |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,786,620 (GRCm38) |
D441G |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,576,633 (GRCm38) |
L50* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,478,243 (GRCm38) |
E349D |
probably damaging |
Het |
| Foxl3 |
A |
G |
5: 138,821,267 (GRCm38) |
D100G |
probably benign |
Het |
| Frat2 |
T |
C |
19: 41,847,803 (GRCm38) |
T37A |
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,164,393 (GRCm38) |
|
probably null |
Het |
| Ift25 |
T |
C |
4: 107,279,767 (GRCm38) |
S121P |
possibly damaging |
Het |
| Impdh1 |
G |
A |
6: 29,205,163 (GRCm38) |
A213V |
probably damaging |
Het |
| Irf2 |
G |
T |
8: 46,845,927 (GRCm38) |
W252L |
probably damaging |
Het |
| Irx4 |
A |
G |
13: 73,268,265 (GRCm38) |
D260G |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,332,143 (GRCm38) |
H338L |
probably benign |
Het |
| Kif9 |
T |
A |
9: 110,485,032 (GRCm38) |
|
probably null |
Het |
| Klhl24 |
T |
C |
16: 20,117,878 (GRCm38) |
V412A |
probably damaging |
Het |
| Lgals8 |
T |
A |
13: 12,454,869 (GRCm38) |
K70* |
probably null |
Het |
| Mrtfb |
T |
C |
16: 13,401,382 (GRCm38) |
S631P |
probably benign |
Het |
| Myo1e |
T |
A |
9: 70,383,877 (GRCm38) |
N983K |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,311,207 (GRCm38) |
R2010G |
probably benign |
Het |
| Npw |
A |
T |
17: 24,657,439 (GRCm38) |
V166D |
possibly damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,709,144 (GRCm38) |
Y169C |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,342,647 (GRCm38) |
Y579H |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 81,308,945 (GRCm38) |
T330A |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,158,026 (GRCm38) |
V1592M |
probably damaging |
Het |
| Ppp2r3a |
A |
C |
9: 101,144,371 (GRCm38) |
M955R |
possibly damaging |
Het |
| Ptprk |
T |
A |
10: 28,589,368 (GRCm38) |
I1349K |
probably damaging |
Het |
| Rad52 |
C |
T |
6: 119,911,079 (GRCm38) |
H9Y |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,702,508 (GRCm38) |
Q466R |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,250,038 (GRCm38) |
I1227N |
possibly damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,214,088 (GRCm38) |
M273V |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,082,410 (GRCm38) |
V406A |
possibly damaging |
Het |
| Slc30a3 |
G |
T |
5: 31,086,821 (GRCm38) |
Y323* |
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,885,573 (GRCm38) |
I441V |
possibly damaging |
Het |
| Spast |
G |
C |
17: 74,352,031 (GRCm38) |
G131A |
probably damaging |
Het |
| Syne1 |
C |
G |
10: 5,040,897 (GRCm38) |
W8444S |
probably damaging |
Het |
| Tgm4 |
G |
T |
9: 123,051,095 (GRCm38) |
A211S |
probably benign |
Het |
| Themis2 |
T |
C |
4: 132,785,802 (GRCm38) |
D371G |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,435,068 (GRCm38) |
I206N |
possibly damaging |
Het |
| Uba3 |
G |
T |
6: 97,199,280 (GRCm38) |
D88E |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 20,846,882 (GRCm38) |
M111K |
probably damaging |
Het |
| Wdr35 |
C |
T |
12: 9,024,281 (GRCm38) |
H971Y |
possibly damaging |
Het |
| Zfp180 |
A |
G |
7: 24,105,103 (GRCm38) |
K316E |
probably damaging |
Het |
| Zfp518a |
T |
C |
19: 40,914,327 (GRCm38) |
L900P |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,244,600 (GRCm38) |
N423D |
possibly damaging |
Het |
| Zfp932 |
A |
G |
5: 110,009,468 (GRCm38) |
Q344R |
probably benign |
Het |
|
| Other mutations in Yeats2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Yeats2
|
APN |
16 |
20,186,304 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01128:Yeats2
|
APN |
16 |
20,161,968 (GRCm38) |
splice site |
probably benign |
|
|
IGL01139:Yeats2
|
APN |
16 |
20,214,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01394:Yeats2
|
APN |
16 |
20,162,032 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01482:Yeats2
|
APN |
16 |
20,222,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01924:Yeats2
|
APN |
16 |
20,206,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01925:Yeats2
|
APN |
16 |
20,179,680 (GRCm38) |
splice site |
probably benign |
|
|
IGL02106:Yeats2
|
APN |
16 |
20,193,220 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL02370:Yeats2
|
APN |
16 |
20,150,471 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02447:Yeats2
|
APN |
16 |
20,193,679 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02669:Yeats2
|
APN |
16 |
20,186,283 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL03155:Yeats2
|
APN |
16 |
20,229,573 (GRCm38) |
critical splice donor site |
probably null |
|
|
tyrion
|
UTSW |
16 |
20,213,401 (GRCm38) |
splice site |
probably benign |
|
|
P0045:Yeats2
|
UTSW |
16 |
20,156,945 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0051:Yeats2
|
UTSW |
16 |
20,193,724 (GRCm38) |
nonsense |
probably null |
|
|
R0051:Yeats2
|
UTSW |
16 |
20,193,724 (GRCm38) |
nonsense |
probably null |
|
|
R0118:Yeats2
|
UTSW |
16 |
20,156,942 (GRCm38) |
nonsense |
probably null |
|
|
R0157:Yeats2
|
UTSW |
16 |
20,221,677 (GRCm38) |
makesense |
probably null |
|
|
R0184:Yeats2
|
UTSW |
16 |
20,203,685 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0194:Yeats2
|
UTSW |
16 |
20,152,969 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R0612:Yeats2
|
UTSW |
16 |
20,186,425 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0655:Yeats2
|
UTSW |
16 |
20,193,824 (GRCm38) |
nonsense |
probably null |
|
|
R0826:Yeats2
|
UTSW |
16 |
20,193,216 (GRCm38) |
nonsense |
probably null |
|
|
R1526:Yeats2
|
UTSW |
16 |
20,206,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1535:Yeats2
|
UTSW |
16 |
20,189,365 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1749:Yeats2
|
UTSW |
16 |
20,186,268 (GRCm38) |
nonsense |
probably null |
|
|
R1842:Yeats2
|
UTSW |
16 |
20,171,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1843:Yeats2
|
UTSW |
16 |
20,229,564 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1926:Yeats2
|
UTSW |
16 |
20,214,426 (GRCm38) |
missense |
probably benign |
|
|
R2000:Yeats2
|
UTSW |
16 |
20,186,391 (GRCm38) |
missense |
probably benign |
0.20 |
|
R2017:Yeats2
|
UTSW |
16 |
20,159,181 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2153:Yeats2
|
UTSW |
16 |
20,154,166 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2167:Yeats2
|
UTSW |
16 |
20,213,401 (GRCm38) |
splice site |
probably benign |
|
|
R2981:Yeats2
|
UTSW |
16 |
20,186,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3160:Yeats2
|
UTSW |
16 |
20,193,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3161:Yeats2
|
UTSW |
16 |
20,193,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:Yeats2
|
UTSW |
16 |
20,193,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3774:Yeats2
|
UTSW |
16 |
20,150,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4250:Yeats2
|
UTSW |
16 |
20,156,935 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4305:Yeats2
|
UTSW |
16 |
20,208,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4455:Yeats2
|
UTSW |
16 |
20,161,993 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4458:Yeats2
|
UTSW |
16 |
20,213,321 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4811:Yeats2
|
UTSW |
16 |
20,152,895 (GRCm38) |
splice site |
probably null |
|
|
R4902:Yeats2
|
UTSW |
16 |
20,207,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5043:Yeats2
|
UTSW |
16 |
20,208,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5047:Yeats2
|
UTSW |
16 |
20,208,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5319:Yeats2
|
UTSW |
16 |
20,186,425 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5328:Yeats2
|
UTSW |
16 |
20,171,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5360:Yeats2
|
UTSW |
16 |
20,154,162 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5416:Yeats2
|
UTSW |
16 |
20,211,569 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5672:Yeats2
|
UTSW |
16 |
20,162,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5684:Yeats2
|
UTSW |
16 |
20,193,803 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5932:Yeats2
|
UTSW |
16 |
20,193,163 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5946:Yeats2
|
UTSW |
16 |
20,207,763 (GRCm38) |
nonsense |
probably null |
|
|
R6168:Yeats2
|
UTSW |
16 |
20,179,558 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6169:Yeats2
|
UTSW |
16 |
20,219,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6179:Yeats2
|
UTSW |
16 |
20,214,475 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6371:Yeats2
|
UTSW |
16 |
20,221,710 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6877:Yeats2
|
UTSW |
16 |
20,179,594 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7149:Yeats2
|
UTSW |
16 |
20,154,189 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7405:Yeats2
|
UTSW |
16 |
20,222,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8353:Yeats2
|
UTSW |
16 |
20,222,887 (GRCm38) |
nonsense |
probably null |
|
|
R8367:Yeats2
|
UTSW |
16 |
20,222,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8453:Yeats2
|
UTSW |
16 |
20,222,887 (GRCm38) |
nonsense |
probably null |
|
|
R8506:Yeats2
|
UTSW |
16 |
20,152,934 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8535:Yeats2
|
UTSW |
16 |
20,159,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8828:Yeats2
|
UTSW |
16 |
20,150,510 (GRCm38) |
missense |
probably benign |
0.45 |
|
R8905:Yeats2
|
UTSW |
16 |
20,190,394 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8924:Yeats2
|
UTSW |
16 |
20,150,562 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9087:Yeats2
|
UTSW |
16 |
20,211,750 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9276:Yeats2
|
UTSW |
16 |
20,157,036 (GRCm38) |
missense |
probably benign |
0.34 |
|
R9338:Yeats2
|
UTSW |
16 |
20,222,783 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9338:Yeats2
|
UTSW |
16 |
20,213,328 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R9378:Yeats2
|
UTSW |
16 |
20,214,478 (GRCm38) |
missense |
probably benign |
|
|
R9569:Yeats2
|
UTSW |
16 |
20,154,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9664:Yeats2
|
UTSW |
16 |
20,228,741 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGGTCTTAACTGTGCTCAC -3'
(R):5'- CTCATGGTGATTGGCTGAAAGG -3'
Sequencing Primer
(F):5'- TCACAGGTGTGTCTGCAC -3'
(R):5'- AAGGACTTGCCAGGTGACTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation