Incidental Mutation 'R9494:Kansl1'
| ID |
717116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1
|
| Ensembl Gene |
ENSMUSG00000018412 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1 |
| Synonyms |
1700081L11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
104224055-104359687 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104247566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 595
(T595A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018556]
[ENSMUST00000106971]
[ENSMUST00000106972]
[ENSMUST00000106977]
|
| AlphaFold |
Q80TG1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018556
AA Change: T595A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: T595A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106971
AA Change: T595A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: T595A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106972
AA Change: T595A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: T595A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
835 |
N/A |
INTRINSIC |
|
PEHE
|
879 |
1029 |
1.53e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106977
AA Change: T595A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: T595A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
|
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
|
PEHE
|
816 |
966 |
1.53e-53 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
All alleles(136) : Gene trapped(136)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
T |
C |
1: 59,206,664 (GRCm39) |
D1593G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,081,852 (GRCm39) |
P1254T |
probably benign |
Het |
| Brsk2 |
C |
T |
7: 141,555,955 (GRCm39) |
R716C |
possibly damaging |
Het |
| Bzw2 |
T |
A |
12: 36,184,947 (GRCm39) |
M1L |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
| Col6a5 |
A |
T |
9: 105,822,732 (GRCm39) |
D208E |
unknown |
Het |
| Cul3 |
T |
A |
1: 80,255,169 (GRCm39) |
S544C |
probably damaging |
Het |
| Enpp1 |
C |
A |
10: 24,527,234 (GRCm39) |
R651L |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,808,649 (GRCm39) |
A766V |
|
Het |
| Epor |
A |
G |
9: 21,870,522 (GRCm39) |
Y453H |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,930,508 (GRCm39) |
K468R |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,086,083 (GRCm39) |
A170V |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,583,565 (GRCm39) |
Y410* |
probably null |
Het |
| Gm10203 |
A |
G |
6: 149,031,740 (GRCm39) |
Y15C |
unknown |
Het |
| Lmtk2 |
A |
T |
5: 144,037,338 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
G |
A |
2: 162,917,843 (GRCm39) |
V69I |
possibly damaging |
Het |
| Myo1d |
T |
C |
11: 80,375,093 (GRCm39) |
K994E |
probably benign |
Het |
| Or5p75-ps1 |
C |
A |
7: 108,107,800 (GRCm39) |
T179K |
unknown |
Het |
| Pcdhga10 |
A |
T |
18: 37,882,421 (GRCm39) |
R727S |
probably benign |
Het |
| Pgp |
T |
A |
17: 24,689,809 (GRCm39) |
L109Q |
probably damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,421 (GRCm39) |
G68D |
probably benign |
Het |
| Pms2 |
T |
A |
5: 143,853,214 (GRCm39) |
I193N |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,942,390 (GRCm39) |
L1236* |
probably null |
Het |
| Pole2 |
A |
G |
12: 69,249,731 (GRCm39) |
V489A |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,429,145 (GRCm39) |
S241P |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,375,830 (GRCm39) |
K477I |
possibly damaging |
Het |
| Stn1 |
C |
T |
19: 47,513,125 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,070,577 (GRCm39) |
V2403A |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,881,747 (GRCm39) |
M361T |
probably benign |
Het |
| Tbc1d2b |
A |
T |
9: 90,152,563 (GRCm39) |
Y68N |
probably damaging |
Het |
| Tbc1d4 |
A |
T |
14: 101,845,895 (GRCm39) |
M1K |
probably null |
Het |
| Thsd1 |
C |
T |
8: 22,733,268 (GRCm39) |
P105L |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,904,796 (GRCm39) |
L1187P |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,846,843 (GRCm39) |
T1057A |
probably benign |
Het |
| Tubg1 |
T |
C |
11: 101,011,724 (GRCm39) |
I77T |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,952,156 (GRCm39) |
L73P |
probably damaging |
Het |
| Uck1 |
G |
A |
2: 32,148,179 (GRCm39) |
R182* |
probably null |
Het |
| Vangl1 |
T |
C |
3: 102,070,665 (GRCm39) |
S424G |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,084 (GRCm39) |
W685R |
probably benign |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,768 (GRCm39) |
S272L |
probably damaging |
Het |
| Zbtb18 |
A |
T |
1: 177,275,648 (GRCm39) |
D327V |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,092 (GRCm39) |
F516S |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,468 (GRCm39) |
I175M |
possibly damaging |
Het |
|
| Other mutations in Kansl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Kansl1
|
APN |
11 |
104,315,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00658:Kansl1
|
APN |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00688:Kansl1
|
APN |
11 |
104,315,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Kansl1
|
APN |
11 |
104,226,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01624:Kansl1
|
APN |
11 |
104,315,378 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02187:Kansl1
|
APN |
11 |
104,269,657 (GRCm39) |
splice site |
probably null |
|
|
IGL02711:Kansl1
|
APN |
11 |
104,226,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Kansl1
|
APN |
11 |
104,225,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
kansas
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
wichita
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
NA:Kansl1
|
UTSW |
11 |
104,233,193 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0399:Kansl1
|
UTSW |
11 |
104,314,958 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0611:Kansl1
|
UTSW |
11 |
104,229,012 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0665:Kansl1
|
UTSW |
11 |
104,234,364 (GRCm39) |
missense |
probably benign |
|
|
R0667:Kansl1
|
UTSW |
11 |
104,234,364 (GRCm39) |
missense |
probably benign |
|
|
R0747:Kansl1
|
UTSW |
11 |
104,233,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0865:Kansl1
|
UTSW |
11 |
104,315,194 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1479:Kansl1
|
UTSW |
11 |
104,233,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Kansl1
|
UTSW |
11 |
104,314,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Kansl1
|
UTSW |
11 |
104,233,283 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1922:Kansl1
|
UTSW |
11 |
104,234,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Kansl1
|
UTSW |
11 |
104,225,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2105:Kansl1
|
UTSW |
11 |
104,226,385 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2907:Kansl1
|
UTSW |
11 |
104,315,286 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3935:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3936:Kansl1
|
UTSW |
11 |
104,234,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4282:Kansl1
|
UTSW |
11 |
104,269,515 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4455:Kansl1
|
UTSW |
11 |
104,315,184 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4696:Kansl1
|
UTSW |
11 |
104,247,593 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4846:Kansl1
|
UTSW |
11 |
104,233,798 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4890:Kansl1
|
UTSW |
11 |
104,233,868 (GRCm39) |
missense |
probably benign |
|
|
R4973:Kansl1
|
UTSW |
11 |
104,315,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Kansl1
|
UTSW |
11 |
104,226,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Kansl1
|
UTSW |
11 |
104,315,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Kansl1
|
UTSW |
11 |
104,247,640 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5310:Kansl1
|
UTSW |
11 |
104,315,684 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5652:Kansl1
|
UTSW |
11 |
104,228,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Kansl1
|
UTSW |
11 |
104,225,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5980:Kansl1
|
UTSW |
11 |
104,234,463 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6013:Kansl1
|
UTSW |
11 |
104,241,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6253:Kansl1
|
UTSW |
11 |
104,248,352 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7751:Kansl1
|
UTSW |
11 |
104,314,890 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7880:Kansl1
|
UTSW |
11 |
104,314,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7888:Kansl1
|
UTSW |
11 |
104,233,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7935:Kansl1
|
UTSW |
11 |
104,315,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8251:Kansl1
|
UTSW |
11 |
104,315,186 (GRCm39) |
missense |
probably benign |
|
|
R9033:Kansl1
|
UTSW |
11 |
104,248,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Kansl1
|
UTSW |
11 |
104,227,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGGAAGCAGGTTAGGATTC -3'
(R):5'- TCCAGAGTTGACCTGTTGTGTC -3'
Sequencing Primer
(F):5'- CAGTAGTTTTGAAGGTTCACAGGAG -3'
(R):5'- GGAACCCACAGTACAGCCTTTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation