Incidental Mutation 'IGL02402:Kat6b'
| ID |
291930 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kat6b
|
| Ensembl Gene |
ENSMUSG00000021767 |
| Gene Name |
K(lysine) acetyltransferase 6B |
| Synonyms |
monocytic leukemia, Myst4, B130044K16Rik, Morf, qkf, querkopf |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
IGL02402
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21681415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 571
(F571I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
|
| AlphaFold |
Q8BRB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069648
AA Change: F571I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: F571I
| 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: F462I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: F462I
| 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: ENSMUST00000182732
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182855
AA Change: F462I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: F462I
| 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: F571I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: F571I
| 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: ENSMUST00000226589
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,707,543 (GRCm39) |
F568L |
probably benign |
Het |
| AW112010 |
T |
A |
19: 11,025,741 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs4 |
A |
T |
9: 59,237,729 (GRCm39) |
L205H |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,711,266 (GRCm39) |
V90A |
possibly damaging |
Het |
| C2cd2l |
T |
C |
9: 44,227,878 (GRCm39) |
K121R |
probably benign |
Het |
| Car14 |
A |
G |
3: 95,806,870 (GRCm39) |
V198A |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,576,955 (GRCm39) |
H117Q |
possibly damaging |
Het |
| Celf1 |
T |
A |
2: 90,829,068 (GRCm39) |
I45N |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,547,997 (GRCm39) |
S103P |
probably damaging |
Het |
| Cyp39a1 |
T |
A |
17: 44,002,613 (GRCm39) |
L276Q |
probably benign |
Het |
| Ddx27 |
T |
G |
2: 166,857,245 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
A |
T |
8: 19,251,279 (GRCm39) |
I49F |
possibly damaging |
Het |
| Dock8 |
C |
A |
19: 25,055,509 (GRCm39) |
T157K |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,839,541 (GRCm39) |
V352A |
probably damaging |
Het |
| Elmo2 |
C |
T |
2: 165,139,312 (GRCm39) |
E412K |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,733 (GRCm39) |
P30S |
possibly damaging |
Het |
| Espnl |
G |
T |
1: 91,272,535 (GRCm39) |
A632S |
probably benign |
Het |
| Gfod1 |
C |
A |
13: 43,354,211 (GRCm39) |
A255S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,704 (GRCm39) |
K2432M |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,827,657 (GRCm39) |
L157P |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,159 (GRCm39) |
D848V |
probably damaging |
Het |
| Jag1 |
C |
T |
2: 136,927,858 (GRCm39) |
S851N |
possibly damaging |
Het |
| Lrrc74b |
G |
A |
16: 17,376,028 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,794,026 (GRCm39) |
K1160E |
probably damaging |
Het |
| Muc19 |
C |
A |
15: 91,778,192 (GRCm39) |
|
noncoding transcript |
Het |
| Nrg4 |
G |
A |
9: 55,135,198 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,037 (GRCm39) |
I12T |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,574,111 (GRCm39) |
V148A |
possibly damaging |
Het |
| Pold3 |
A |
G |
7: 99,749,618 (GRCm39) |
|
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,747,784 (GRCm39) |
E291G |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,222,781 (GRCm39) |
V92A |
possibly damaging |
Het |
| Rab44 |
T |
A |
17: 29,359,490 (GRCm39) |
H559Q |
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,730,051 (GRCm39) |
D199G |
probably damaging |
Het |
| Rps18-ps3 |
C |
T |
8: 107,989,754 (GRCm39) |
|
noncoding transcript |
Het |
| Septin10 |
T |
C |
10: 59,006,758 (GRCm39) |
T93A |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,184,865 (GRCm39) |
T111A |
probably damaging |
Het |
| Spata25 |
C |
T |
2: 164,670,377 (GRCm39) |
M1I |
probably null |
Het |
| Spink5 |
T |
A |
18: 44,100,171 (GRCm39) |
C63S |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,302,425 (GRCm39) |
|
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,177,567 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,891,716 (GRCm39) |
N940K |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,600 (GRCm39) |
Q169L |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,764,120 (GRCm39) |
C242F |
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,999,305 (GRCm39) |
M205K |
probably benign |
Het |
| Utp18 |
A |
C |
11: 93,774,617 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation