Incidental Mutation 'R9481:Kat6b'
ID |
716269 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
R9481 (G1)
|
Quality Score |
141.467 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
AGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGA
at 21712417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
|
AlphaFold |
Q8BRB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069648
|
SMART Domains |
Protein: ENSMUSP00000066693 Gene: ENSMUSG00000021767
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
|
SMART Domains |
Protein: ENSMUSP00000138377 Gene: ENSMUSG00000021767
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
|
SMART Domains |
Protein: ENSMUSP00000138511 Gene: ENSMUSG00000021767
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
|
SMART Domains |
Protein: ENSMUSP00000138421 Gene: ENSMUSG00000021767
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Acsf2 |
C |
T |
11: 94,464,044 (GRCm39) |
V47M |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,579,388 (GRCm39) |
C215* |
probably null |
Het |
Ambn |
G |
T |
5: 88,613,050 (GRCm39) |
|
probably null |
Het |
Apol9b |
G |
T |
15: 77,619,656 (GRCm39) |
V151L |
probably benign |
Het |
Arid1b |
A |
G |
17: 5,369,007 (GRCm39) |
Y1070C |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,391,092 (GRCm39) |
L322P |
possibly damaging |
Het |
Bdnf |
A |
G |
2: 109,553,935 (GRCm39) |
D103G |
possibly damaging |
Het |
Ccdc9 |
A |
T |
7: 16,016,761 (GRCm39) |
D42E |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,963,676 (GRCm39) |
T419A |
|
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Clasp2 |
A |
T |
9: 113,670,669 (GRCm39) |
R329W |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,470,459 (GRCm39) |
C2495R |
|
Het |
Cyba |
A |
T |
8: 123,154,394 (GRCm39) |
I43N |
possibly damaging |
Het |
Cyp2a5 |
A |
C |
7: 26,540,511 (GRCm39) |
T375P |
possibly damaging |
Het |
Cyp2r1 |
A |
G |
7: 114,152,369 (GRCm39) |
F196S |
probably damaging |
Het |
Efcab2 |
T |
C |
1: 178,308,887 (GRCm39) |
F130S |
probably damaging |
Het |
Eml6 |
T |
G |
11: 29,788,641 (GRCm39) |
|
probably null |
Het |
Fbln5 |
A |
T |
12: 101,734,728 (GRCm39) |
C181* |
probably null |
Het |
Glyatl3 |
A |
G |
17: 41,221,016 (GRCm39) |
V117A |
probably benign |
Het |
Gpc6 |
A |
G |
14: 117,163,432 (GRCm39) |
S29G |
probably benign |
Het |
Hadhb |
T |
G |
5: 30,368,711 (GRCm39) |
S13A |
probably benign |
Het |
Hook1 |
C |
T |
4: 95,901,505 (GRCm39) |
R488C |
probably damaging |
Het |
Icam5 |
A |
G |
9: 20,948,877 (GRCm39) |
Y743C |
probably damaging |
Het |
Il15ra |
T |
C |
2: 11,724,854 (GRCm39) |
V108A |
probably benign |
Het |
Itga1 |
T |
C |
13: 115,152,753 (GRCm39) |
N223S |
probably benign |
Het |
Kcnk1 |
T |
C |
8: 126,756,281 (GRCm39) |
C268R |
probably damaging |
Het |
Kctd19 |
A |
T |
8: 106,120,249 (GRCm39) |
L264M |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,497,907 (GRCm39) |
D3949E |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,554,860 (GRCm39) |
I1258K |
probably benign |
Het |
Lyst |
G |
A |
13: 13,857,653 (GRCm39) |
E2481K |
possibly damaging |
Het |
Megf10 |
T |
A |
18: 57,395,090 (GRCm39) |
I484N |
probably benign |
Het |
Mettl21e |
T |
C |
1: 44,245,857 (GRCm39) |
I130V |
probably benign |
Het |
Nmnat2 |
C |
A |
1: 152,962,181 (GRCm39) |
N140K |
possibly damaging |
Het |
Nsmaf |
T |
C |
4: 6,414,976 (GRCm39) |
K630R |
probably benign |
Het |
Or2t1 |
C |
T |
14: 14,328,756 (GRCm38) |
S215L |
probably benign |
Het |
Or5w15 |
A |
T |
2: 87,568,576 (GRCm39) |
F31I |
probably benign |
Het |
Or8b38 |
G |
T |
9: 37,972,707 (GRCm39) |
L30F |
probably benign |
Het |
Or8g26 |
T |
C |
9: 39,096,172 (GRCm39) |
S230P |
possibly damaging |
Het |
Pafah1b2 |
G |
A |
9: 45,884,284 (GRCm39) |
Q123* |
probably null |
Het |
Ptprb |
T |
A |
10: 116,155,353 (GRCm39) |
N415K |
probably benign |
Het |
Rev3l |
T |
A |
10: 39,701,033 (GRCm39) |
D1843E |
probably benign |
Het |
Rps6ka4 |
T |
A |
19: 6,809,372 (GRCm39) |
R427S |
possibly damaging |
Het |
Scgb2b24 |
A |
T |
7: 33,436,795 (GRCm39) |
L106I |
probably benign |
Het |
Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
Spata17 |
A |
G |
1: 186,844,756 (GRCm39) |
V281A |
possibly damaging |
Het |
Spef1 |
A |
T |
2: 131,014,625 (GRCm39) |
V99E |
probably damaging |
Het |
Srpra |
C |
T |
9: 35,126,015 (GRCm39) |
T431I |
probably damaging |
Het |
Stk32c |
G |
A |
7: 138,768,173 (GRCm39) |
P36L |
unknown |
Het |
Taar7d |
T |
C |
10: 23,903,739 (GRCm39) |
I207T |
probably benign |
Het |
Tle1 |
G |
A |
4: 72,044,504 (GRCm39) |
T501I |
probably damaging |
Het |
Tmem88b |
A |
T |
4: 155,868,733 (GRCm39) |
W172R |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vcl |
G |
T |
14: 21,070,726 (GRCm39) |
V771L |
probably benign |
Het |
Vmn1r200 |
T |
A |
13: 22,579,911 (GRCm39) |
M238K |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,793,621 (GRCm39) |
|
probably benign |
Het |
Vsig10l |
G |
T |
7: 43,112,795 (GRCm39) |
E18* |
probably null |
Het |
Wdfy3 |
A |
G |
5: 102,000,478 (GRCm39) |
L2964P |
probably benign |
Het |
Zfp334 |
G |
A |
2: 165,222,271 (GRCm39) |
R591W |
probably damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
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 |
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 |
R9526:Kat6b
|
UTSW |
14 |
21,567,564 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGGCTGAACGACTAATG -3'
(R):5'- CCACTGAGATGTAAACTACAGGG -3'
Sequencing Primer
(F):5'- TGGAACAAGCCAGCTGC -3'
(R):5'- TGAGATGTAAACTACAGGGAAACTAC -3'
|
Posted On |
2022-07-18 |