Incidental Mutation 'R0720:Kansl1l'
| ID |
218336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kansl1l
|
| Ensembl Gene |
ENSMUSG00000026004 |
| Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
| Synonyms |
1110028C15Rik, C430010P07Rik |
| MMRRC Submission |
038902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R0720 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66840515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 262
(M262V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068168]
[ENSMUST00000113987]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068168
AA Change: M262V
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063843
Gene: ENSMUSG00000026004
AA Change: M262V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
535 |
N/A |
INTRINSIC |
|
PEHE
|
755 |
875 |
2.42e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113987
AA Change: M262V
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109620
Gene: ENSMUSG00000026004
AA Change: M262V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
535 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129190
|
| SMART Domains |
Protein: ENSMUSP00000118603
Gene: ENSMUSG00000026004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
191 |
N/A |
INTRINSIC |
|
PEHE
|
455 |
575 |
2.42e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194465
|
| Meta Mutation Damage Score |
0.1347 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,024,063 (GRCm39) |
I136T |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,646,572 (GRCm39) |
D416G |
probably damaging |
Het |
| Commd4 |
G |
T |
9: 57,062,718 (GRCm39) |
D179E |
probably benign |
Het |
| Cyp3a57 |
T |
C |
5: 145,327,213 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,314,007 (GRCm39) |
N1941S |
probably null |
Het |
| Dynap |
T |
C |
18: 70,374,055 (GRCm39) |
D157G |
unknown |
Het |
| Entrep2 |
A |
G |
7: 64,469,658 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,410,242 (GRCm39) |
|
probably null |
Het |
| Fbxo25 |
A |
G |
8: 13,985,222 (GRCm39) |
Y305C |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,530,241 (GRCm39) |
D36G |
probably benign |
Het |
| Gas2l3 |
T |
C |
10: 89,249,805 (GRCm39) |
T438A |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,971,923 (GRCm39) |
Y288F |
possibly damaging |
Het |
| Gm3164 |
C |
A |
14: 4,442,719 (GRCm38) |
S218R |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,811,453 (GRCm39) |
I392M |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,104,344 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,326,718 (GRCm39) |
N4926K |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,201,406 (GRCm39) |
S631P |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,781,220 (GRCm39) |
H139R |
probably benign |
Het |
| Or1e34 |
T |
A |
11: 73,778,688 (GRCm39) |
N170I |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,013 (GRCm39) |
T157S |
probably benign |
Het |
| Ptger2 |
T |
C |
14: 45,226,590 (GRCm39) |
C57R |
probably benign |
Het |
| Rhot1 |
T |
C |
11: 80,114,769 (GRCm39) |
V59A |
probably damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,975,458 (GRCm39) |
|
probably null |
Het |
| Rxfp2 |
G |
T |
5: 149,967,584 (GRCm39) |
K148N |
probably benign |
Het |
| Sec23a |
G |
A |
12: 59,018,057 (GRCm39) |
T623M |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,269 (GRCm39) |
L139P |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,584,960 (GRCm39) |
|
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,796,971 (GRCm39) |
I223T |
probably damaging |
Het |
| Tdo2 |
G |
T |
3: 81,870,065 (GRCm39) |
A269E |
probably damaging |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,156 (GRCm39) |
Y102C |
possibly damaging |
Het |
| Tns1 |
A |
G |
1: 73,964,740 (GRCm39) |
L1297P |
probably benign |
Het |
| Txndc8 |
C |
T |
4: 57,984,245 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,235 (GRCm39) |
N2622S |
probably damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,599,305 (GRCm39) |
F330I |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,925,948 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kansl1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Kansl1l
|
APN |
1 |
66,763,733 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00825:Kansl1l
|
APN |
1 |
66,840,671 (GRCm39) |
missense |
probably benign |
|
|
IGL01644:Kansl1l
|
APN |
1 |
66,840,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01690:Kansl1l
|
APN |
1 |
66,840,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01811:Kansl1l
|
APN |
1 |
66,762,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Kansl1l
|
APN |
1 |
66,777,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Kansl1l
|
APN |
1 |
66,841,127 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02578:Kansl1l
|
APN |
1 |
66,840,848 (GRCm39) |
nonsense |
probably null |
|
|
IGL02707:Kansl1l
|
APN |
1 |
66,812,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Kansl1l
|
APN |
1 |
66,774,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03187:Kansl1l
|
APN |
1 |
66,765,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03279:Kansl1l
|
APN |
1 |
66,774,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
arkansasii
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Kansasii
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
|
PIT4810001:Kansl1l
|
UTSW |
1 |
66,801,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0068:Kansl1l
|
UTSW |
1 |
66,760,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Kansl1l
|
UTSW |
1 |
66,840,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0312:Kansl1l
|
UTSW |
1 |
66,817,265 (GRCm39) |
missense |
probably null |
0.41 |
|
R0456:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1381:Kansl1l
|
UTSW |
1 |
66,760,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1470:Kansl1l
|
UTSW |
1 |
66,841,156 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1759:Kansl1l
|
UTSW |
1 |
66,841,047 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1840:Kansl1l
|
UTSW |
1 |
66,817,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Kansl1l
|
UTSW |
1 |
66,812,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2888:Kansl1l
|
UTSW |
1 |
66,763,764 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2893:Kansl1l
|
UTSW |
1 |
66,840,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Kansl1l
|
UTSW |
1 |
66,840,409 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4249:Kansl1l
|
UTSW |
1 |
66,812,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kansl1l
|
UTSW |
1 |
66,777,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4710:Kansl1l
|
UTSW |
1 |
66,840,655 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4768:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Kansl1l
|
UTSW |
1 |
66,841,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5645:Kansl1l
|
UTSW |
1 |
66,840,503 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5840:Kansl1l
|
UTSW |
1 |
66,809,374 (GRCm39) |
intron |
probably benign |
|
|
R5964:Kansl1l
|
UTSW |
1 |
66,765,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Kansl1l
|
UTSW |
1 |
66,774,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6009:Kansl1l
|
UTSW |
1 |
66,774,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6051:Kansl1l
|
UTSW |
1 |
66,765,885 (GRCm39) |
missense |
probably null |
1.00 |
|
R6092:Kansl1l
|
UTSW |
1 |
66,812,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Kansl1l
|
UTSW |
1 |
66,774,744 (GRCm39) |
missense |
probably benign |
|
|
R6402:Kansl1l
|
UTSW |
1 |
66,801,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6906:Kansl1l
|
UTSW |
1 |
66,762,437 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7241:Kansl1l
|
UTSW |
1 |
66,840,787 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7434:Kansl1l
|
UTSW |
1 |
66,801,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Kansl1l
|
UTSW |
1 |
66,840,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Kansl1l
|
UTSW |
1 |
66,817,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8187:Kansl1l
|
UTSW |
1 |
66,840,896 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8972:Kansl1l
|
UTSW |
1 |
66,812,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Kansl1l
|
UTSW |
1 |
66,840,347 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9386:Kansl1l
|
UTSW |
1 |
66,765,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Kansl1l
|
UTSW |
1 |
66,760,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Kansl1l
|
UTSW |
1 |
66,817,150 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTGTAGCAGACAGTGCAAATC -3'
(R):5'- TGCCCTTCTCACTCCGAAAACG -3'
Sequencing Primer
(F):5'- TAGCAGACAGTGCAAATCTTTGG -3'
(R):5'- TTGGACCTAGCCACTCAGATG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation