Incidental Mutation 'R6427:Kat6b'
ID |
518373 |
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 |
044566-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.912)
|
Stock # |
R6427 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21567480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 180
(S180P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138421
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
[ENSMUST00000182996]
|
AlphaFold |
Q8BRB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069648
AA Change: S180P
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000066693 Gene: ENSMUSG00000021767 AA Change: S180P
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 |
noncoding transcript
Transcript: ENSMUST00000096222
|
SMART Domains |
Protein: ENSMUSP00000093937 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 |
317 |
8.71e-5 |
SMART |
|
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: S180P
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138377 Gene: ENSMUSG00000021767 AA Change: S180P
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: S180P
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138511 Gene: ENSMUSG00000021767 AA Change: S180P
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 |
noncoding transcript
Transcript: ENSMUST00000182859
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182964
AA Change: S180P
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138421 Gene: ENSMUSG00000021767 AA Change: S180P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183201
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183228
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
93% (39/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Ankmy2 |
A |
G |
12: 36,237,710 (GRCm39) |
S270G |
possibly damaging |
Het |
Anxa2 |
T |
A |
9: 69,383,431 (GRCm39) |
|
probably null |
Het |
Arid1a |
G |
T |
4: 133,408,835 (GRCm39) |
P1891T |
unknown |
Het |
Atn1 |
G |
T |
6: 124,723,139 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,356,157 (GRCm39) |
|
probably null |
Het |
Cab39l |
A |
C |
14: 59,743,719 (GRCm39) |
K94N |
possibly damaging |
Het |
Cacna2d2 |
G |
T |
9: 107,392,641 (GRCm39) |
M528I |
possibly damaging |
Het |
Ccnc |
T |
A |
4: 21,747,578 (GRCm39) |
|
probably null |
Het |
Cfap251 |
T |
C |
5: 123,464,596 (GRCm39) |
L1268P |
probably damaging |
Het |
Clasp2 |
C |
T |
9: 113,721,512 (GRCm39) |
T774I |
probably damaging |
Het |
Cngb1 |
C |
T |
8: 96,024,387 (GRCm39) |
|
probably benign |
Het |
Cpt1a |
T |
A |
19: 3,412,156 (GRCm39) |
F209L |
probably damaging |
Het |
Cyp2j7 |
C |
A |
4: 96,115,904 (GRCm39) |
D181Y |
probably damaging |
Het |
Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
Ddr1 |
C |
A |
17: 35,998,114 (GRCm39) |
R477L |
probably benign |
Het |
Ech1 |
A |
G |
7: 28,525,310 (GRCm39) |
T22A |
probably benign |
Het |
Fbln5 |
T |
C |
12: 101,728,081 (GRCm39) |
D294G |
possibly damaging |
Het |
Fkbp15 |
T |
C |
4: 62,241,439 (GRCm39) |
I569V |
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,573,227 (GRCm39) |
R2141S |
possibly damaging |
Het |
Lepr |
G |
A |
4: 101,631,454 (GRCm39) |
E655K |
possibly damaging |
Het |
Mro |
T |
A |
18: 74,005,104 (GRCm39) |
L69Q |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,381,049 (GRCm39) |
L581H |
probably benign |
Het |
Nkiras2 |
C |
T |
11: 100,515,861 (GRCm39) |
R63W |
probably damaging |
Het |
Nlrp4e |
T |
A |
7: 23,020,058 (GRCm39) |
S182T |
possibly damaging |
Het |
Obi1 |
T |
C |
14: 104,717,662 (GRCm39) |
K237R |
possibly damaging |
Het |
Or52b4i |
A |
T |
7: 102,191,895 (GRCm39) |
I251F |
probably benign |
Het |
Otud4 |
T |
C |
8: 80,395,126 (GRCm39) |
S553P |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 37,086,786 (GRCm39) |
I323T |
probably benign |
Het |
Polr1b |
G |
T |
2: 128,965,181 (GRCm39) |
A756S |
probably damaging |
Het |
Prex2 |
A |
T |
1: 11,252,255 (GRCm39) |
Y1100F |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,102,242 (GRCm39) |
S328T |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,774,998 (GRCm39) |
T52A |
probably damaging |
Het |
Taf3 |
A |
T |
2: 9,956,164 (GRCm39) |
F515I |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,176,966 (GRCm39) |
|
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Vps51 |
T |
C |
19: 6,120,947 (GRCm39) |
Y322C |
possibly damaging |
Het |
Zfp735 |
G |
A |
11: 73,581,140 (GRCm39) |
C59Y |
possibly damaging |
Het |
Zfp759 |
A |
G |
13: 67,287,162 (GRCm39) |
|
probably null |
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 |
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'- ACGGCTCCTCCTTGAAGAAC -3'
(R):5'- CAAACTCCATTCAGATCTTCCG -3'
Sequencing Primer
(F):5'- GGCTCCTCCTTGAAGAACATTGAG -3'
(R):5'- TGGGACCGTTTAATACAGCC -3'
|
Posted On |
2018-05-24 |