Incidental Mutation 'R7987:Kat6b'
ID |
651548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kat6b
|
Ensembl Gene |
ENSMUSG00000021767 |
Gene Name |
K(lysine) acetyltransferase 6B |
Synonyms |
monocytic leukemia, Myst4, B130044K16Rik, Morf, qkf, querkopf |
MMRRC Submission |
046028-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
R7987 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21719931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1428
(T1428A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
|
AlphaFold |
Q8BRB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069648
AA Change: T1537A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000066693 Gene: ENSMUSG00000021767 AA Change: T1537A
Domain | Start | End | E-Value | Type |
H15
|
94 |
171 |
1.7e-12 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
PHD
|
216 |
271 |
6.6e-5 |
SMART |
PHD
|
272 |
319 |
5.56e-12 |
SMART |
low complexity region
|
386 |
398 |
N/A |
INTRINSIC |
low complexity region
|
411 |
425 |
N/A |
INTRINSIC |
Blast:PHD
|
483 |
573 |
3e-51 |
BLAST |
Pfam:MOZ_SAS
|
594 |
772 |
4.5e-85 |
PFAM |
coiled coil region
|
811 |
845 |
N/A |
INTRINSIC |
coiled coil region
|
875 |
913 |
N/A |
INTRINSIC |
low complexity region
|
926 |
943 |
N/A |
INTRINSIC |
low complexity region
|
946 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1175 |
N/A |
INTRINSIC |
low complexity region
|
1207 |
1237 |
N/A |
INTRINSIC |
low complexity region
|
1391 |
1410 |
N/A |
INTRINSIC |
low complexity region
|
1450 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1517 |
N/A |
INTRINSIC |
low complexity region
|
1676 |
1695 |
N/A |
INTRINSIC |
low complexity region
|
1811 |
1832 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112458
|
SMART Domains |
Protein: ENSMUSP00000108077 Gene: ENSMUSG00000021767
Domain | Start | End | E-Value | Type |
H15
|
94 |
159 |
3.4e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182405
AA Change: T1428A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138377 Gene: ENSMUSG00000021767 AA Change: T1428A
Domain | Start | End | E-Value | Type |
H15
|
94 |
171 |
1.7e-12 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
PHD
|
216 |
271 |
6.6e-5 |
SMART |
PHD
|
272 |
319 |
5.56e-12 |
SMART |
Pfam:MOZ_SAS
|
482 |
669 |
1.3e-89 |
PFAM |
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
804 |
N/A |
INTRINSIC |
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
low complexity region
|
837 |
850 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1066 |
N/A |
INTRINSIC |
low complexity region
|
1098 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1282 |
1301 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1381 |
1408 |
N/A |
INTRINSIC |
low complexity region
|
1567 |
1586 |
N/A |
INTRINSIC |
low complexity region
|
1702 |
1723 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182855
AA Change: T1428A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138511 Gene: ENSMUSG00000021767 AA Change: T1428A
Domain | Start | End | E-Value | Type |
H15
|
94 |
171 |
1.7e-12 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
PHD
|
216 |
271 |
6.6e-5 |
SMART |
PHD
|
272 |
319 |
5.56e-12 |
SMART |
Pfam:MOZ_SAS
|
482 |
669 |
1.3e-89 |
PFAM |
coiled coil region
|
702 |
736 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
804 |
N/A |
INTRINSIC |
low complexity region
|
817 |
834 |
N/A |
INTRINSIC |
low complexity region
|
837 |
850 |
N/A |
INTRINSIC |
low complexity region
|
1044 |
1066 |
N/A |
INTRINSIC |
low complexity region
|
1098 |
1128 |
N/A |
INTRINSIC |
low complexity region
|
1282 |
1301 |
N/A |
INTRINSIC |
low complexity region
|
1341 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1381 |
1408 |
N/A |
INTRINSIC |
low complexity region
|
1567 |
1586 |
N/A |
INTRINSIC |
low complexity region
|
1702 |
1723 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182964
AA Change: T1537A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000138421 Gene: ENSMUSG00000021767 AA Change: T1537A
Domain | Start | End | E-Value | Type |
H15
|
94 |
171 |
1.7e-12 |
SMART |
low complexity region
|
189 |
203 |
N/A |
INTRINSIC |
PHD
|
216 |
271 |
6.6e-5 |
SMART |
PHD
|
272 |
319 |
5.56e-12 |
SMART |
low complexity region
|
386 |
398 |
N/A |
INTRINSIC |
low complexity region
|
411 |
425 |
N/A |
INTRINSIC |
Blast:PHD
|
483 |
573 |
3e-51 |
BLAST |
Pfam:MOZ_SAS
|
591 |
778 |
1.4e-89 |
PFAM |
coiled coil region
|
811 |
845 |
N/A |
INTRINSIC |
coiled coil region
|
875 |
913 |
N/A |
INTRINSIC |
low complexity region
|
926 |
943 |
N/A |
INTRINSIC |
low complexity region
|
946 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1153 |
1175 |
N/A |
INTRINSIC |
low complexity region
|
1207 |
1237 |
N/A |
INTRINSIC |
low complexity region
|
1391 |
1410 |
N/A |
INTRINSIC |
low complexity region
|
1450 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1517 |
N/A |
INTRINSIC |
low complexity region
|
1676 |
1695 |
N/A |
INTRINSIC |
low complexity region
|
1811 |
1832 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0578 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
96% (50/52) |
MGI Phenotype |
PHENOTYPE: Reduced expression of this gene results in developmental defects of the skeleton and brain, particularly the cerebral cortex. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430097D07Rik |
G |
T |
2: 32,464,317 (GRCm39) |
Q161K |
unknown |
Het |
Acsl5 |
T |
C |
19: 55,266,405 (GRCm39) |
|
probably null |
Het |
Adgre1 |
T |
A |
17: 57,754,987 (GRCm39) |
I695N |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,739,356 (GRCm39) |
D2176G |
unknown |
Het |
Atp6v0a2 |
G |
A |
5: 124,797,050 (GRCm39) |
G810D |
probably damaging |
Het |
Bod1l |
A |
C |
5: 41,952,413 (GRCm39) |
N2868K |
probably damaging |
Het |
Brd7 |
T |
C |
8: 89,060,769 (GRCm39) |
T526A |
probably benign |
Het |
C9 |
T |
A |
15: 6,496,943 (GRCm39) |
Y213* |
probably null |
Het |
Cacna1i |
G |
A |
15: 80,204,553 (GRCm39) |
|
probably null |
Het |
Card6 |
T |
A |
15: 5,130,007 (GRCm39) |
N463I |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,525,319 (GRCm39) |
Y485C |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,917,194 (GRCm39) |
F260L |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,963,498 (GRCm39) |
D2304G |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,855,834 (GRCm39) |
D55G |
probably damaging |
Het |
Ecsit |
C |
A |
9: 21,984,780 (GRCm39) |
R296L |
probably damaging |
Het |
Entpd8 |
A |
G |
2: 24,974,778 (GRCm39) |
D403G |
probably damaging |
Het |
Epha2 |
C |
A |
4: 141,035,791 (GRCm39) |
Q76K |
probably damaging |
Het |
Exoc1 |
T |
A |
5: 76,691,432 (GRCm39) |
V252E |
probably damaging |
Het |
Fmnl3 |
T |
A |
15: 99,225,979 (GRCm39) |
H225L |
possibly damaging |
Het |
Gm4565 |
A |
C |
7: 22,282,812 (GRCm39) |
M2R |
probably benign |
Het |
Gpr146 |
G |
T |
5: 139,378,440 (GRCm39) |
A81S |
possibly damaging |
Het |
Heg1 |
C |
A |
16: 33,541,100 (GRCm39) |
S419* |
probably null |
Het |
Hps5 |
A |
C |
7: 46,418,475 (GRCm39) |
I865S |
probably benign |
Het |
Hsp90ab1 |
A |
C |
17: 45,882,532 (GRCm39) |
I54S |
probably damaging |
Het |
Hyal4 |
T |
G |
6: 24,763,865 (GRCm39) |
M342R |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,927,470 (GRCm39) |
T987A |
possibly damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,111,959 (GRCm39) |
D893G |
probably benign |
Het |
Mst1r |
A |
T |
9: 107,789,997 (GRCm39) |
|
probably null |
Het |
Mtus2 |
G |
T |
5: 148,168,836 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 70,161,277 (GRCm39) |
T1174A |
probably benign |
Het |
Nsun5 |
G |
A |
5: 135,404,534 (GRCm39) |
R424H |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,831,462 (GRCm39) |
E33G |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,838 (GRCm39) |
I31V |
probably benign |
Het |
Or7d10 |
T |
C |
9: 19,831,610 (GRCm39) |
F35S |
possibly damaging |
Het |
Palm |
C |
T |
10: 79,629,539 (GRCm39) |
|
probably benign |
Het |
Papln |
A |
G |
12: 83,822,156 (GRCm39) |
E337G |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,285,743 (GRCm39) |
D263G |
unknown |
Het |
Slc10a7 |
T |
A |
8: 79,423,843 (GRCm39) |
F202I |
probably benign |
Het |
Smpd3 |
T |
C |
8: 106,986,526 (GRCm39) |
I455V |
probably benign |
Het |
Snip1 |
G |
T |
4: 124,960,732 (GRCm39) |
G63W |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 41,888,857 (GRCm39) |
Y1981F |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,820 (GRCm39) |
T36A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,194 (GRCm39) |
S2746P |
possibly damaging |
Het |
Tob2 |
G |
A |
15: 81,735,681 (GRCm39) |
P96L |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,885,744 (GRCm39) |
Y1816N |
probably damaging |
Het |
Trpc3 |
A |
G |
3: 36,698,318 (GRCm39) |
I647T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,721,905 (GRCm39) |
S6600P |
unknown |
Het |
Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,159 (GRCm39) |
I116T |
probably benign |
Het |
Vmn1r26 |
A |
T |
6: 57,985,264 (GRCm39) |
Y308* |
probably null |
Het |
Vmn2r16 |
C |
T |
5: 109,488,015 (GRCm39) |
T296I |
probably damaging |
Het |
Vmn2r50 |
T |
C |
7: 9,772,016 (GRCm39) |
T562A |
probably benign |
Het |
Wdfy2 |
A |
G |
14: 63,189,380 (GRCm39) |
D283G |
possibly damaging |
Het |
|
Other mutations in Kat6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Kat6b
|
APN |
14 |
21,718,627 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01128:Kat6b
|
APN |
14 |
21,710,928 (GRCm39) |
missense |
probably benign |
|
IGL02272:Kat6b
|
APN |
14 |
21,676,846 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02349:Kat6b
|
APN |
14 |
21,687,661 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02402:Kat6b
|
APN |
14 |
21,681,415 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02474:Kat6b
|
APN |
14 |
21,719,107 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02516:Kat6b
|
APN |
14 |
21,659,936 (GRCm39) |
splice site |
probably benign |
|
IGL02666:Kat6b
|
APN |
14 |
21,678,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02971:Kat6b
|
APN |
14 |
21,719,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03075:Kat6b
|
APN |
14 |
21,711,638 (GRCm39) |
nonsense |
probably null |
|
IGL03274:Kat6b
|
APN |
14 |
21,659,831 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03308:Kat6b
|
APN |
14 |
21,674,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R0118:Kat6b
|
UTSW |
14 |
21,720,042 (GRCm39) |
missense |
probably damaging |
0.99 |
R0383:Kat6b
|
UTSW |
14 |
21,719,149 (GRCm39) |
missense |
probably benign |
0.02 |
R0441:Kat6b
|
UTSW |
14 |
21,720,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R0457:Kat6b
|
UTSW |
14 |
21,720,598 (GRCm39) |
missense |
probably damaging |
0.96 |
R0558:Kat6b
|
UTSW |
14 |
21,719,489 (GRCm39) |
missense |
probably benign |
0.03 |
R0662:Kat6b
|
UTSW |
14 |
21,712,417 (GRCm39) |
small deletion |
probably benign |
|
R0684:Kat6b
|
UTSW |
14 |
21,718,849 (GRCm39) |
missense |
probably benign |
|
R0755:Kat6b
|
UTSW |
14 |
21,687,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R1216:Kat6b
|
UTSW |
14 |
21,672,108 (GRCm39) |
nonsense |
probably null |
|
R1479:Kat6b
|
UTSW |
14 |
21,669,024 (GRCm39) |
missense |
probably benign |
0.19 |
R1873:Kat6b
|
UTSW |
14 |
21,567,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Kat6b
|
UTSW |
14 |
21,678,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R2151:Kat6b
|
UTSW |
14 |
21,718,735 (GRCm39) |
missense |
probably benign |
0.02 |
R2152:Kat6b
|
UTSW |
14 |
21,718,735 (GRCm39) |
missense |
probably benign |
0.02 |
R2153:Kat6b
|
UTSW |
14 |
21,718,735 (GRCm39) |
missense |
probably benign |
0.02 |
R2154:Kat6b
|
UTSW |
14 |
21,718,735 (GRCm39) |
missense |
probably benign |
0.02 |
R2399:Kat6b
|
UTSW |
14 |
21,712,417 (GRCm39) |
small deletion |
probably benign |
|
R3740:Kat6b
|
UTSW |
14 |
21,720,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R3771:Kat6b
|
UTSW |
14 |
21,567,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R4178:Kat6b
|
UTSW |
14 |
21,668,972 (GRCm39) |
nonsense |
probably null |
|
R4261:Kat6b
|
UTSW |
14 |
21,719,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R4551:Kat6b
|
UTSW |
14 |
21,711,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Kat6b
|
UTSW |
14 |
21,711,030 (GRCm39) |
missense |
probably benign |
|
R5055:Kat6b
|
UTSW |
14 |
21,567,062 (GRCm39) |
missense |
probably damaging |
0.99 |
R5098:Kat6b
|
UTSW |
14 |
21,669,083 (GRCm39) |
splice site |
probably benign |
|
R5121:Kat6b
|
UTSW |
14 |
21,669,326 (GRCm39) |
missense |
probably damaging |
0.98 |
R5158:Kat6b
|
UTSW |
14 |
21,720,054 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5488:Kat6b
|
UTSW |
14 |
21,719,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5489:Kat6b
|
UTSW |
14 |
21,719,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R5653:Kat6b
|
UTSW |
14 |
21,719,440 (GRCm39) |
missense |
probably benign |
0.10 |
R5742:Kat6b
|
UTSW |
14 |
21,718,503 (GRCm39) |
missense |
probably damaging |
0.99 |
R5868:Kat6b
|
UTSW |
14 |
21,684,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R5969:Kat6b
|
UTSW |
14 |
21,720,860 (GRCm39) |
missense |
probably damaging |
0.97 |
R6110:Kat6b
|
UTSW |
14 |
21,720,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6427:Kat6b
|
UTSW |
14 |
21,567,480 (GRCm39) |
missense |
probably benign |
0.24 |
R6457:Kat6b
|
UTSW |
14 |
21,720,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R6639:Kat6b
|
UTSW |
14 |
21,567,562 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6891:Kat6b
|
UTSW |
14 |
21,719,104 (GRCm39) |
missense |
probably benign |
0.01 |
R7784:Kat6b
|
UTSW |
14 |
21,710,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R7916:Kat6b
|
UTSW |
14 |
21,712,417 (GRCm39) |
small deletion |
probably benign |
|
R7977:Kat6b
|
UTSW |
14 |
21,719,931 (GRCm39) |
missense |
probably benign |
0.00 |
R8167:Kat6b
|
UTSW |
14 |
21,719,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R8266:Kat6b
|
UTSW |
14 |
21,566,913 (GRCm39) |
start gained |
probably benign |
|
R8483:Kat6b
|
UTSW |
14 |
21,719,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8902:Kat6b
|
UTSW |
14 |
21,719,629 (GRCm39) |
missense |
probably benign |
0.30 |
R8909:Kat6b
|
UTSW |
14 |
21,719,214 (GRCm39) |
missense |
probably benign |
|
R8931:Kat6b
|
UTSW |
14 |
21,674,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R9112:Kat6b
|
UTSW |
14 |
21,675,256 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9182:Kat6b
|
UTSW |
14 |
21,567,187 (GRCm39) |
missense |
probably benign |
0.20 |
R9224:Kat6b
|
UTSW |
14 |
21,720,031 (GRCm39) |
missense |
probably benign |
0.14 |
R9273:Kat6b
|
UTSW |
14 |
21,711,551 (GRCm39) |
missense |
probably benign |
0.07 |
R9332:Kat6b
|
UTSW |
14 |
21,720,093 (GRCm39) |
missense |
probably benign |
0.00 |
R9380:Kat6b
|
UTSW |
14 |
21,678,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Kat6b
|
UTSW |
14 |
21,675,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9400:Kat6b
|
UTSW |
14 |
21,659,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R9432:Kat6b
|
UTSW |
14 |
21,672,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R9481:Kat6b
|
UTSW |
14 |
21,712,417 (GRCm39) |
small deletion |
probably benign |
|
R9526:Kat6b
|
UTSW |
14 |
21,567,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCGGATTCAGTGACCTG -3'
(R):5'- TGACCCATTCGCTCATATAAGCC -3'
Sequencing Primer
(F):5'- CCTGGGCAGTATTGAGAGCAC -3'
(R):5'- TTCGCTCATATAAGCCAATGTTG -3'
|
Posted On |
2020-09-15 |