Incidental Mutation 'R2214:Kat7'
| ID |
241033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat7
|
| Ensembl Gene |
ENSMUSG00000038909 |
| Gene Name |
K(lysine) acetyltransferase 7 |
| Synonyms |
Hboa, Hbo1, Myst2 |
| MMRRC Submission |
040216-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
95165085-95201072 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95166631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 517
(T517I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072621]
[ENSMUST00000092766]
[ENSMUST00000103159]
[ENSMUST00000107733]
[ENSMUST00000107734]
|
| AlphaFold |
Q5SVQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072621
AA Change: T578I
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072416
Gene: ENSMUSG00000038909
AA Change: T578I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
184 |
214 |
3.2e-17 |
PFAM |
|
ZnF_C2H2
|
338 |
364 |
1.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092766
AA Change: T608I
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090441
Gene: ENSMUSG00000038909
AA Change: T608I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
186 |
214 |
1.2e-16 |
PFAM |
|
ZnF_C2H2
|
368 |
394 |
1.86e1 |
SMART |
|
Pfam:MOZ_SAS
|
395 |
573 |
7.9e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103159
AA Change: T517I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099448
Gene: ENSMUSG00000038909
AA Change: T517I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
123 |
153 |
2.8e-17 |
PFAM |
|
ZnF_C2H2
|
277 |
303 |
1.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107733
AA Change: T576I
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103361
Gene: ENSMUSG00000038909
AA Change: T576I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
182 |
212 |
2.3e-17 |
PFAM |
|
ZnF_C2H2
|
336 |
362 |
1.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107734
AA Change: T606I
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103362
Gene: ENSMUSG00000038909
AA Change: T606I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
145 |
N/A |
INTRINSIC |
|
Pfam:zf-C2HC
|
182 |
212 |
2.5e-17 |
PFAM |
|
ZnF_C2H2
|
366 |
392 |
1.86e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138671
|
| SMART Domains |
Protein: ENSMUSP00000121772
Gene: ENSMUSG00000038909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MOZ_SAS
|
1 |
148 |
1.7e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic growth arrest, incomplete embryo turning, disorganized yolk sac vascular plexus, and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
| Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
| Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
| Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
| Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
| Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
| Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
| Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
| Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
| Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,299,528 (GRCm39) |
S849L |
possibly damaging |
Het |
| Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
| Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
| Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
Het |
|
| Other mutations in Kat7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Kat7
|
APN |
11 |
95,196,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03287:Kat7
|
APN |
11 |
95,190,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Kat7
|
UTSW |
11 |
95,191,034 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0578:Kat7
|
UTSW |
11 |
95,182,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Kat7
|
UTSW |
11 |
95,167,373 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2038:Kat7
|
UTSW |
11 |
95,190,928 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2115:Kat7
|
UTSW |
11 |
95,194,120 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2355:Kat7
|
UTSW |
11 |
95,182,407 (GRCm39) |
missense |
probably benign |
|
|
R3425:Kat7
|
UTSW |
11 |
95,193,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3775:Kat7
|
UTSW |
11 |
95,182,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3811:Kat7
|
UTSW |
11 |
95,182,441 (GRCm39) |
splice site |
probably benign |
|
|
R4066:Kat7
|
UTSW |
11 |
95,174,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4169:Kat7
|
UTSW |
11 |
95,171,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4657:Kat7
|
UTSW |
11 |
95,168,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Kat7
|
UTSW |
11 |
95,193,949 (GRCm39) |
splice site |
probably benign |
|
|
R5186:Kat7
|
UTSW |
11 |
95,177,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6015:Kat7
|
UTSW |
11 |
95,174,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Kat7
|
UTSW |
11 |
95,174,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Kat7
|
UTSW |
11 |
95,174,910 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7192:Kat7
|
UTSW |
11 |
95,166,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7217:Kat7
|
UTSW |
11 |
95,182,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7728:Kat7
|
UTSW |
11 |
95,190,907 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7999:Kat7
|
UTSW |
11 |
95,174,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8230:Kat7
|
UTSW |
11 |
95,168,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8747:Kat7
|
UTSW |
11 |
95,185,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Kat7
|
UTSW |
11 |
95,196,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Kat7
|
UTSW |
11 |
95,190,928 (GRCm39) |
missense |
probably benign |
|
|
R9239:Kat7
|
UTSW |
11 |
95,197,020 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCATACAGATCCGTCC -3'
(R):5'- ACTTAGGTGAATCTGTTGCTAGTC -3'
Sequencing Primer
(F):5'- CTCAGAACTAGTGTCTGCAGTGTAC -3'
(R):5'- ATCTGTTGCTAGTCATTTTGGAATC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation