Incidental Mutation 'R6168:Yeats2'
ID |
490274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yeats2
|
Ensembl Gene |
ENSMUSG00000041215 |
Gene Name |
YEATS domain containing 2 |
Synonyms |
|
MMRRC Submission |
044430-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R6168 (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 C
at 19998308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 288
(S288P)
|
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: S291P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000087506 Gene: ENSMUSG00000041215 AA Change: S291P
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: S344P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000111222 Gene: ENSMUSG00000041215 AA Change: S344P
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: ENSMUST00000117664
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232019
AA Change: S307P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232172
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
AA Change: S288P
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,571,827 (GRCm39) |
L568F |
possibly damaging |
Het |
Adam3 |
A |
T |
8: 25,171,630 (GRCm39) |
|
probably null |
Het |
Adamts13 |
G |
T |
2: 26,894,898 (GRCm39) |
A1069S |
probably benign |
Het |
Adarb1 |
A |
G |
10: 77,158,153 (GRCm39) |
L98P |
probably damaging |
Het |
Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
Alox12b |
T |
A |
11: 69,060,460 (GRCm39) |
I672N |
probably damaging |
Het |
Ark2n |
A |
G |
18: 77,761,653 (GRCm39) |
S220P |
probably damaging |
Het |
Ash1l |
C |
T |
3: 88,960,080 (GRCm39) |
R2271* |
probably null |
Het |
Atf7ip |
A |
G |
6: 136,536,817 (GRCm39) |
T17A |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,752,986 (GRCm39) |
|
probably null |
Het |
Crcp |
A |
G |
5: 130,066,737 (GRCm39) |
N41S |
probably damaging |
Het |
Defb15 |
A |
C |
8: 22,420,069 (GRCm39) |
N19K |
possibly damaging |
Het |
Dnah7a |
T |
A |
1: 53,450,727 (GRCm39) |
D3901V |
probably damaging |
Het |
Dnah7b |
A |
C |
1: 46,329,863 (GRCm39) |
T3236P |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,838,679 (GRCm39) |
S608P |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,791,577 (GRCm39) |
K532E |
probably damaging |
Het |
Fbrsl1 |
C |
T |
5: 110,543,922 (GRCm39) |
V54M |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,750 (GRCm39) |
V807E |
probably damaging |
Het |
Hoxa2 |
A |
G |
6: 52,140,461 (GRCm39) |
L175P |
probably damaging |
Het |
Igkv4-58 |
A |
C |
6: 69,477,281 (GRCm39) |
D105E |
probably damaging |
Het |
Igkv8-27 |
A |
T |
6: 70,148,880 (GRCm39) |
S91R |
probably benign |
Het |
Itgax |
T |
C |
7: 127,732,269 (GRCm39) |
V175A |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,291,661 (GRCm39) |
D283G |
probably benign |
Het |
Lepr |
G |
A |
4: 101,592,789 (GRCm39) |
G135R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,051,823 (GRCm39) |
S378G |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,086,739 (GRCm39) |
D145E |
probably damaging |
Het |
Nkd1 |
T |
A |
8: 89,311,859 (GRCm39) |
N44K |
probably damaging |
Het |
Notch2 |
A |
G |
3: 98,052,533 (GRCm39) |
K2010E |
probably damaging |
Het |
Nsd3 |
G |
A |
8: 26,181,188 (GRCm39) |
G930S |
probably null |
Het |
Or2w1 |
T |
G |
13: 21,317,399 (GRCm39) |
I151M |
possibly damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,035 (GRCm39) |
F285S |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,953 (GRCm39) |
L23P |
probably damaging |
Het |
Or8k3 |
T |
G |
2: 86,058,938 (GRCm39) |
I126L |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,012,309 (GRCm39) |
I49V |
probably damaging |
Het |
Pde4c |
G |
A |
8: 71,202,688 (GRCm39) |
E625K |
probably benign |
Het |
Pdgfb |
T |
C |
15: 79,884,587 (GRCm39) |
T151A |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,383,501 (GRCm39) |
V440A |
probably benign |
Het |
Piwil2 |
T |
C |
14: 70,632,800 (GRCm39) |
T591A |
probably benign |
Het |
Ppm1l |
A |
G |
3: 69,456,740 (GRCm39) |
D219G |
probably damaging |
Het |
Psmc6 |
T |
C |
14: 45,581,140 (GRCm39) |
I312T |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,008,442 (GRCm39) |
V46A |
possibly damaging |
Het |
Rhov |
T |
C |
2: 119,101,453 (GRCm39) |
Y51C |
probably damaging |
Het |
S100a16 |
C |
T |
3: 90,449,879 (GRCm39) |
Q121* |
probably null |
Het |
Slc5a12 |
T |
C |
2: 110,447,089 (GRCm39) |
V199A |
probably damaging |
Het |
Slc6a7 |
A |
T |
18: 61,134,734 (GRCm39) |
M447K |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,175,144 (GRCm39) |
V764A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,678 (GRCm39) |
Y200H |
possibly damaging |
Het |
Vmn2r102 |
G |
A |
17: 19,914,402 (GRCm39) |
A656T |
possibly damaging |
Het |
Vmn2r49 |
G |
T |
7: 9,718,713 (GRCm39) |
D450E |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,911,048 (GRCm39) |
N813K |
probably damaging |
Het |
Zfta |
T |
C |
19: 7,400,305 (GRCm39) |
V257A |
probably benign |
Het |
Zswim6 |
G |
A |
13: 107,924,299 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- ACAGAGACTCCACTGAGGTG -3'
(R):5'- AGTAGAACTGCGTGCTAGC -3'
Sequencing Primer
(F):5'- ACTCCACTGAGGTGTCCGTG -3'
(R):5'- ACTGCGTGCTAGCGGCTC -3'
|
Posted On |
2017-10-10 |