Incidental Mutation 'R1526:Yeats2'
| ID |
167469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yeats2
|
| Ensembl Gene |
ENSMUSG00000041215 |
| Gene Name |
YEATS domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
039566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20024836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 697
(M697V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
| AlphaFold |
Q3TUF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090052
AA Change: M682V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: M682V
| 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: M735V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: M735V
| 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: ENSMUST00000231671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231795
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232019
AA Change: M697V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232094
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232338
AA Change: M679V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
G |
T |
12: 21,235,188 (GRCm39) |
A97S |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,545 (GRCm39) |
K785E |
probably damaging |
Het |
| C1qtnf1 |
A |
T |
11: 118,334,616 (GRCm39) |
E32V |
possibly damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,525,081 (GRCm39) |
L500P |
probably damaging |
Het |
| Cdo1 |
T |
C |
18: 46,861,130 (GRCm39) |
E27G |
probably benign |
Het |
| Ceacam5 |
G |
A |
7: 17,484,620 (GRCm39) |
G454D |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,600,648 (GRCm39) |
D991G |
probably damaging |
Het |
| Cep170 |
A |
C |
1: 176,616,071 (GRCm39) |
I79S |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,926,039 (GRCm39) |
Q149R |
possibly damaging |
Het |
| Cideb |
A |
T |
14: 55,992,619 (GRCm39) |
L99* |
probably null |
Het |
| Cntnap5a |
A |
G |
1: 116,356,207 (GRCm39) |
N746S |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,564,080 (GRCm39) |
N1715S |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,360,848 (GRCm39) |
S93P |
unknown |
Het |
| Csmd3 |
C |
A |
15: 47,449,028 (GRCm39) |
|
probably null |
Het |
| Disp3 |
T |
C |
4: 148,344,373 (GRCm39) |
I510V |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,914,070 (GRCm39) |
V1115E |
probably damaging |
Het |
| Dzip3 |
A |
C |
16: 48,757,369 (GRCm39) |
L888R |
probably damaging |
Het |
| Emx2 |
C |
A |
19: 59,452,442 (GRCm39) |
A242E |
probably benign |
Het |
| Fto |
G |
A |
8: 92,168,314 (GRCm39) |
E256K |
possibly damaging |
Het |
| Gabrb2 |
A |
C |
11: 42,482,715 (GRCm39) |
Y191S |
possibly damaging |
Het |
| Gm6526 |
A |
T |
14: 43,987,394 (GRCm39) |
H110L |
probably damaging |
Het |
| Grin3b |
T |
A |
10: 79,810,436 (GRCm39) |
N647K |
probably damaging |
Het |
| Ifit2 |
T |
G |
19: 34,550,602 (GRCm39) |
S47R |
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,712,781 (GRCm39) |
V244E |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,482,153 (GRCm39) |
L141P |
probably benign |
Het |
| Iws1 |
A |
G |
18: 32,213,178 (GRCm39) |
D202G |
probably benign |
Het |
| Kctd4 |
A |
C |
14: 76,200,523 (GRCm39) |
I165L |
probably benign |
Het |
| Lrch3 |
G |
A |
16: 32,770,746 (GRCm39) |
C116Y |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,668,844 (GRCm39) |
T93A |
possibly damaging |
Het |
| Mgat4d |
A |
G |
8: 84,095,666 (GRCm39) |
I314V |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,159 (GRCm39) |
Y256* |
probably null |
Het |
| Myo9b |
G |
T |
8: 71,808,408 (GRCm39) |
V1672L |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,502,975 (GRCm39) |
P449L |
probably benign |
Het |
| Nucb2 |
G |
A |
7: 116,123,642 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,919,412 (GRCm39) |
Y6864C |
probably damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,420 (GRCm39) |
|
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,486 (GRCm39) |
I128F |
probably damaging |
Het |
| Or4p18 |
C |
T |
2: 88,232,777 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or5ac15 |
G |
A |
16: 58,940,293 (GRCm39) |
L47F |
probably damaging |
Het |
| Or6c208 |
A |
G |
10: 129,224,176 (GRCm39) |
K225E |
probably benign |
Het |
| Otogl |
G |
T |
10: 107,705,387 (GRCm39) |
P647T |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,824,244 (GRCm39) |
D271G |
probably benign |
Het |
| Pbx3 |
T |
C |
2: 34,261,776 (GRCm39) |
I53V |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,639,865 (GRCm39) |
|
probably null |
Het |
| Ppp4r3a |
A |
T |
12: 101,007,000 (GRCm39) |
D810E |
probably damaging |
Het |
| Ptpro |
A |
T |
6: 137,438,724 (GRCm39) |
D1189V |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,492,002 (GRCm39) |
N3758S |
probably damaging |
Het |
| Scarb2 |
G |
A |
5: 92,594,200 (GRCm39) |
T454M |
possibly damaging |
Het |
| Sec23a |
A |
C |
12: 59,032,972 (GRCm39) |
|
probably null |
Het |
| Spire2 |
C |
T |
8: 124,095,502 (GRCm39) |
A535V |
probably benign |
Het |
| Svopl |
A |
T |
6: 38,006,570 (GRCm39) |
F142L |
probably benign |
Het |
| Tas2r144 |
T |
C |
6: 42,192,674 (GRCm39) |
I138T |
probably benign |
Het |
| Tbc1d15 |
A |
G |
10: 115,039,135 (GRCm39) |
M535T |
probably benign |
Het |
| Tnfaip1 |
C |
T |
11: 78,420,971 (GRCm39) |
V30M |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,625,108 (GRCm39) |
W1398R |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,134,694 (GRCm39) |
S755P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,606,460 (GRCm39) |
S18116R |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,571,465 (GRCm39) |
|
probably null |
Het |
| Wdr49 |
T |
A |
3: 75,304,227 (GRCm39) |
K494M |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,579,158 (GRCm39) |
P652S |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,009,002 (GRCm39) |
M323V |
probably benign |
Het |
| Zfp629 |
G |
T |
7: 127,209,931 (GRCm39) |
P626Q |
possibly damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,532 (GRCm39) |
Y787F |
probably benign |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAATTTCAAATATGGGTTCAGCCAG -3'
(R):5'- GCTCAGGAAAGGATGGCCCTCAG -3'
Sequencing Primer
(F):5'- GGGTTCAGCCAGTGTATATACA -3'
(R):5'- CTGAACGATGGAATGATGCACTAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation