Incidental Mutation 'IGL02971:Kat6b'
| ID |
365820 |
| 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 # |
IGL02971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21719826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1502
(S1502G)
|
| 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: S1502G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: S1502G
| 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: S1393G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: S1393G
| 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: S1393G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: S1393G
| 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: S1502G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: S1502G
| 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 |
|
| 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 |
|---|
| A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
| Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
| Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
| Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,198,671 (GRCm39) |
Y364* |
probably null |
Het |
| Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
| Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hdac2 |
A |
T |
10: 36,876,370 (GRCm39) |
K462* |
probably null |
Het |
| Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
| Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
| Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
| Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
| Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
| Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
| Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,747,497 (GRCm39) |
I297V |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,616,559 (GRCm39) |
V139M |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,125,156 (GRCm39) |
N35S |
possibly damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
| Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
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 |
|
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 |
2015-12-18 |
Incidental Mutation