Incidental Mutation 'R6639:Kat6b'
| ID |
525671 |
| 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 |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
21549284-21722546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21567562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069648]
[ENSMUST00000112458]
[ENSMUST00000182405]
[ENSMUST00000182855]
[ENSMUST00000182964]
[ENSMUST00000182996]
|
| AlphaFold |
Q8BRB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069648
AA Change: D207G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066693
Gene: ENSMUSG00000021767
AA Change: D207G
| 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 |
possibly damaging
Transcript: ENSMUST00000182405
AA Change: D207G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138377
Gene: ENSMUSG00000021767
AA Change: D207G
| 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 |
possibly damaging
Transcript: ENSMUST00000182855
AA Change: D207G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138511
Gene: ENSMUSG00000021767
AA Change: D207G
| 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 |
possibly damaging
Transcript: ENSMUST00000182964
AA Change: D207G
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138421
Gene: ENSMUSG00000021767
AA Change: D207G
| 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: ENSMUST00000183055
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183228
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
probably damaging |
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 |
|
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'- ATCCAGCCTTTCAGCAGAGG -3'
(R):5'- CAAACTCCATTCAGATCTTCCG -3'
Sequencing Primer
(F):5'- GCAGAGGTTGCGGCTAG -3'
(R):5'- TGGGACCGTTTAATACAGCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation