Incidental Mutation 'R4261:Kat6b'
ID |
322667 |
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 |
041074-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R4261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21719737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1363
(I1363N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138511
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
|
AlphaFold |
Q8BRB7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069648
AA Change: I1472N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066693 Gene: ENSMUSG00000021767 AA Change: I1472N
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 damaging
Transcript: ENSMUST00000182405
AA Change: I1363N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138377 Gene: ENSMUSG00000021767 AA Change: I1363N
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 damaging
Transcript: ENSMUST00000182855
AA Change: I1363N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138511 Gene: ENSMUSG00000021767 AA Change: I1363N
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 damaging
Transcript: ENSMUST00000182964
AA Change: I1472N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138421 Gene: ENSMUSG00000021767 AA Change: I1472N
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 |
0.1589 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
96% (53/55) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
R7987: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'- AGTTCGTTCTGTCAATAGCCC -3'
(R):5'- AGACTTGACGCTGCAGGTTG -3'
Sequencing Primer
(F):5'- GTTCTGTCAATAGCCCCAGTG -3'
(R):5'- TGCTGCAGCTCCCACTGATG -3'
|
Posted On |
2015-06-20 |