Incidental Mutation 'R4458:Yeats2'
| ID |
330034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Yeats2
|
| Ensembl Gene |
ENSMUSG00000041215 |
| Gene Name |
YEATS domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
041718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R4458 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
19959813-20051323 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20032071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 19
(I19T)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090052]
[ENSMUST00000115560]
[ENSMUST00000232019]
[ENSMUST00000232338]
|
| AlphaFold |
Q3TUF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090052
AA Change: I982T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215
AA Change: I982T
| 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: I1035T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215
AA Change: I1035T
| 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: ENSMUST00000232019
AA Change: I997T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232338
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232613
AA Change: I19T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,550 (GRCm39) |
I56N |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
| Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
| Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,771 (GRCm39) |
R406L |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
| Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,258,630 (GRCm39) |
E822K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
| Lias |
T |
C |
5: 65,551,383 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
| Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,885,052 (GRCm39) |
I419V |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
| Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
| Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
| Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
| Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
| Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
| Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
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 |
|
|
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 |
|
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'- TGTAAAATCTCCATTATCCATTGCC -3'
(R):5'- ACTCACAAACGCTCAAGGTG -3'
Sequencing Primer
(F):5'- AAATCTCCATTATCCATTGCCTCCTG -3'
(R):5'- TGAGTTAAATCCCTGGGACCTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation