Incidental Mutation 'R5319:Yeats2'
| ID |
406012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yeats2
|
| Ensembl Gene |
ENSMUSG00000041215 |
| Gene Name |
YEATS domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
042902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20005175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 385
(V385A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
| AlphaFold |
Q3TUF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090052
AA Change: V388A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: V388A
| 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: V441A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: V441A
| 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: V404A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
AA Change: V385A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0577 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (69/73) |
| 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 |
|---|
| 4930449I24Rik |
T |
C |
5: 146,441,506 (GRCm39) |
S218P |
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,596,615 (GRCm39) |
S121A |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,491,479 (GRCm39) |
R174H |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,435,010 (GRCm39) |
|
probably null |
Het |
| Becn1 |
A |
G |
11: 101,179,629 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,561,549 (GRCm39) |
Y984C |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,324,213 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
G |
16: 34,543,542 (GRCm39) |
N633K |
probably damaging |
Het |
| Cdk5rap1 |
T |
A |
2: 154,177,489 (GRCm39) |
T577S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,630,940 (GRCm39) |
R307G |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,360,620 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,718,762 (GRCm39) |
D177E |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,256 (GRCm39) |
Y127H |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,983 (GRCm39) |
T98A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,265,058 (GRCm39) |
S4757P |
possibly damaging |
Het |
| Dvl2 |
C |
T |
11: 69,898,957 (GRCm39) |
T448I |
possibly damaging |
Het |
| E230016K23Rik |
T |
G |
11: 83,512,496 (GRCm39) |
|
noncoding transcript |
Het |
| Efl1 |
G |
T |
7: 82,323,714 (GRCm39) |
D219Y |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,807,793 (GRCm39) |
|
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,213,015 (GRCm39) |
T311S |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,224 (GRCm39) |
I27F |
probably damaging |
Het |
| Gm8521 |
A |
T |
Y: 3,859,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,771,860 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
C |
1: 36,143,259 (GRCm39) |
V398A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,321,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,148,370 (GRCm39) |
N621K |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,822,911 (GRCm39) |
F2785S |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,574,791 (GRCm39) |
G1182D |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,108 (GRCm39) |
I281T |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,229 (GRCm39) |
A2511T |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,170,886 (GRCm39) |
D328G |
possibly damaging |
Het |
| Myo1c |
G |
A |
11: 75,552,852 (GRCm39) |
E434K |
possibly damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,205 (GRCm39) |
S387P |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,215,197 (GRCm38) |
S272P |
probably benign |
Het |
| Nsrp1 |
T |
C |
11: 76,940,293 (GRCm39) |
H104R |
probably damaging |
Het |
| Odf1 |
T |
A |
15: 38,219,863 (GRCm39) |
S64T |
probably benign |
Het |
| Or2aa1 |
A |
T |
11: 59,480,477 (GRCm39) |
V146E |
probably damaging |
Het |
| Or4c106 |
T |
A |
2: 88,683,122 (GRCm39) |
I276K |
probably damaging |
Het |
| Or7g25 |
C |
T |
9: 19,160,329 (GRCm39) |
R122H |
possibly damaging |
Het |
| Pde4b |
C |
A |
4: 102,278,985 (GRCm39) |
|
probably benign |
Het |
| Phox2a |
C |
T |
7: 101,470,057 (GRCm39) |
T96M |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,622,114 (GRCm39) |
E478G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,486,983 (GRCm39) |
T517S |
probably benign |
Het |
| Ptk7 |
C |
T |
17: 46,883,603 (GRCm39) |
V821M |
probably damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,709,913 (GRCm39) |
V2M |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,152,529 (GRCm39) |
V380A |
probably benign |
Het |
| Rpl13a-ps1 |
A |
G |
19: 50,018,591 (GRCm39) |
V195A |
possibly damaging |
Het |
| Rsph1 |
C |
A |
17: 31,492,351 (GRCm39) |
V72F |
probably benign |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,072 (GRCm39) |
V640A |
probably benign |
Het |
| Simc1 |
T |
A |
13: 54,672,795 (GRCm39) |
V381E |
probably benign |
Het |
| Slc15a3 |
A |
T |
19: 10,833,296 (GRCm39) |
T438S |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,898,233 (GRCm39) |
V494M |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,674,058 (GRCm39) |
R335L |
probably benign |
Het |
| Trp53i13 |
A |
T |
11: 77,399,566 (GRCm39) |
N254K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,922 (GRCm39) |
Y130C |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,130,415 (GRCm39) |
I174V |
probably damaging |
Het |
| Tsnax |
T |
A |
8: 125,742,458 (GRCm39) |
D62E |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,806,193 (GRCm39) |
E739D |
probably benign |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,209 (GRCm39) |
I184F |
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 |
|
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 |
|
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'- TTCCCAGAGACCACTGAAGC -3'
(R):5'- TGGCAGTGTAGAAGCATCTCC -3'
Sequencing Primer
(F):5'- GCTGAGAGACACAGTACATTTTATTC -3'
(R):5'- TGTAGAAGCATCTCCGAGCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation