Incidental Mutation 'R0118:Kat6b'
ID |
60563 |
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 |
038404-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
R0118 (G1)
|
Quality Score |
101 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21720042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1465
(F1465L)
|
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: F1574L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000066693 Gene: ENSMUSG00000021767 AA Change: F1574L
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: F1465L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138377 Gene: ENSMUSG00000021767 AA Change: F1465L
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: F1465L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138511 Gene: ENSMUSG00000021767 AA Change: F1465L
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: F1574L
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138421 Gene: ENSMUSG00000021767 AA Change: F1574L
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.2%
- 10x: 89.3%
- 20x: 67.4%
|
Validation Efficiency |
98% (50/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
C |
9: 30,823,040 (GRCm39) |
R343G |
probably damaging |
Het |
Asxl2 |
T |
G |
12: 3,546,923 (GRCm39) |
V569G |
probably damaging |
Het |
Azin2 |
A |
C |
4: 128,843,430 (GRCm39) |
H85Q |
probably damaging |
Het |
Cacna1a |
C |
T |
8: 85,262,712 (GRCm39) |
R324C |
probably damaging |
Het |
Ccr3 |
C |
A |
9: 123,829,647 (GRCm39) |
Y327* |
probably null |
Het |
Cers2 |
T |
C |
3: 95,227,537 (GRCm39) |
F55S |
probably benign |
Het |
Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 45,037,326 (GRCm39) |
|
probably null |
Het |
Cpn2 |
T |
C |
16: 30,079,186 (GRCm39) |
R172G |
probably benign |
Het |
Ctdnep1 |
T |
C |
11: 69,879,557 (GRCm39) |
|
probably null |
Het |
Dennd3 |
T |
A |
15: 73,436,925 (GRCm39) |
Y1051N |
probably damaging |
Het |
Dmap1 |
T |
G |
4: 117,533,680 (GRCm39) |
Y196S |
probably damaging |
Het |
Entpd7 |
G |
A |
19: 43,692,751 (GRCm39) |
W102* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,442,664 (GRCm39) |
C2624* |
probably null |
Het |
Gdpd3 |
A |
G |
7: 126,370,165 (GRCm39) |
Y238C |
probably damaging |
Het |
Gjb3 |
A |
G |
4: 127,220,451 (GRCm39) |
V27A |
probably damaging |
Het |
Klra17 |
A |
T |
6: 129,808,552 (GRCm39) |
M227K |
probably benign |
Het |
Map6 |
A |
G |
7: 98,966,824 (GRCm39) |
D348G |
possibly damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,855,696 (GRCm39) |
S1472P |
probably benign |
Het |
Megf6 |
C |
A |
4: 154,339,098 (GRCm39) |
P545Q |
probably damaging |
Het |
Mertk |
C |
T |
2: 128,601,086 (GRCm39) |
R357W |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,544,835 (GRCm39) |
I104N |
probably damaging |
Het |
Mrm3 |
T |
A |
11: 76,140,781 (GRCm39) |
V263E |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,405,210 (GRCm39) |
Y488* |
probably null |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Nfs1 |
T |
C |
2: 155,976,444 (GRCm39) |
H150R |
probably damaging |
Het |
Odad3 |
A |
T |
9: 21,906,353 (GRCm39) |
N224K |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,035 (GRCm39) |
M275T |
probably benign |
Het |
Or8b56 |
T |
C |
9: 38,739,154 (GRCm39) |
S50P |
possibly damaging |
Het |
Or8g19 |
T |
A |
9: 39,055,399 (GRCm39) |
M1K |
probably null |
Het |
Or9q1 |
A |
G |
19: 13,804,929 (GRCm39) |
F277S |
possibly damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,848 (GRCm39) |
Y1059C |
probably damaging |
Het |
Pik3r5 |
T |
A |
11: 68,381,306 (GRCm39) |
L164Q |
probably damaging |
Het |
Polr3g |
T |
C |
13: 81,824,240 (GRCm39) |
|
probably benign |
Het |
Ppm1e |
T |
A |
11: 87,122,564 (GRCm39) |
K464N |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,416,631 (GRCm39) |
T1037A |
probably damaging |
Het |
Rpgrip1l |
A |
T |
8: 91,996,750 (GRCm39) |
I108N |
probably damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Spem1 |
T |
C |
11: 69,712,371 (GRCm39) |
K98E |
possibly damaging |
Het |
St7l |
T |
C |
3: 104,796,619 (GRCm39) |
V237A |
probably damaging |
Het |
Tbc1d16 |
T |
C |
11: 119,048,642 (GRCm39) |
H337R |
probably damaging |
Het |
Tbc1d32 |
T |
A |
10: 55,893,701 (GRCm39) |
I1291F |
probably benign |
Het |
Tnfaip6 |
G |
T |
2: 51,933,827 (GRCm39) |
E61* |
probably null |
Het |
Trib2 |
A |
T |
12: 15,843,929 (GRCm39) |
W102R |
probably damaging |
Het |
Uimc1 |
G |
T |
13: 55,233,457 (GRCm39) |
N66K |
probably damaging |
Het |
Vmn1r63 |
T |
A |
7: 5,805,838 (GRCm39) |
T265S |
probably benign |
Het |
Vps35 |
G |
A |
8: 86,021,582 (GRCm39) |
T3I |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,975,692 (GRCm39) |
L63* |
probably null |
Het |
Zfp282 |
A |
G |
6: 47,869,866 (GRCm39) |
R304G |
probably benign |
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 |
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 |
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'- GCAGATGTCCAACATCAGTGGGAG -3'
(R):5'- GACTGCGAAAGCTGAACAAGCC -3'
Sequencing Primer
(F):5'- AACCTGCAGCGTCAAGTCTC -3'
(R):5'- GCTGAACAAGCCCTGTGTTAC -3'
|
Posted On |
2013-07-24 |