Incidental Mutation 'IGL03308:Kat6b'
| ID |
416458 |
| 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 # |
IGL03308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21674902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 356
(S356P)
|
| 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: S356P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S356P
| 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 damaging
Transcript: ENSMUST00000182405
AA Change: S356P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: S356P
| 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: ENSMUST00000182553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182732
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182855
AA Change: S356P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: S356P
| 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: S356P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S356P
| 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 |
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,821 (GRCm39) |
I216V |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,288,475 (GRCm39) |
I1367V |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,342,333 (GRCm39) |
I175F |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,965,919 (GRCm39) |
V671A |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,015,721 (GRCm39) |
D67G |
probably damaging |
Het |
| Cdk17 |
G |
A |
10: 93,057,506 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,369,777 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,719,675 (GRCm39) |
L228P |
unknown |
Het |
| Eef1a2 |
A |
G |
2: 180,790,629 (GRCm39) |
|
probably benign |
Het |
| Fars2 |
T |
G |
13: 36,388,670 (GRCm39) |
I53R |
possibly damaging |
Het |
| Frmd4a |
G |
T |
2: 4,502,837 (GRCm39) |
A98S |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,887,957 (GRCm39) |
M106L |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,547,401 (GRCm39) |
T194A |
possibly damaging |
Het |
| Ift27 |
A |
G |
15: 78,050,215 (GRCm39) |
S65P |
probably damaging |
Het |
| Inpp5d |
A |
C |
1: 87,630,919 (GRCm39) |
Y430S |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,159,901 (GRCm39) |
T443M |
possibly damaging |
Het |
| Mcf2l |
C |
T |
8: 13,059,512 (GRCm39) |
R708C |
probably damaging |
Het |
| Mlf1 |
T |
C |
3: 67,305,140 (GRCm39) |
W214R |
probably damaging |
Het |
| Naga |
A |
T |
15: 82,220,088 (GRCm39) |
L153Q |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,374,349 (GRCm39) |
Q559R |
possibly damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,525 (GRCm39) |
F101S |
probably damaging |
Het |
| Or2t6 |
T |
A |
14: 14,175,161 (GRCm38) |
H307L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,255,399 (GRCm39) |
D1148G |
possibly damaging |
Het |
| Prss23 |
A |
C |
7: 89,158,938 (GRCm39) |
L377R |
probably benign |
Het |
| Ptprc |
G |
T |
1: 138,054,058 (GRCm39) |
T27K |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,998 (GRCm39) |
T4553A |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Skint3 |
T |
C |
4: 112,111,264 (GRCm39) |
F130L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,749,624 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,792,240 (GRCm39) |
N433D |
probably damaging |
Het |
| Tapbpl |
G |
A |
6: 125,205,142 (GRCm39) |
A268V |
possibly damaging |
Het |
| Tmem131l |
T |
C |
3: 83,848,209 (GRCm39) |
I314V |
probably benign |
Het |
| Tmem44 |
A |
G |
16: 30,362,566 (GRCm39) |
W151R |
probably damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,931,798 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
G |
1: 191,729,461 (GRCm39) |
N530T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,907 (GRCm39) |
I24662T |
probably damaging |
Het |
| Vmn1r49 |
A |
T |
6: 90,049,341 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,498,785 (GRCm39) |
C375* |
probably null |
Het |
| Vps26b |
T |
C |
9: 26,940,796 (GRCm39) |
Y41C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,562 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,236,978 (GRCm39) |
Q576* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,354,505 (GRCm39) |
D1422G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation