Incidental Mutation 'R8187:Kansl1l'
ID |
634895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kansl1l
|
Ensembl Gene |
ENSMUSG00000026004 |
Gene Name |
KAT8 regulatory NSL complex subunit 1-like |
Synonyms |
1110028C15Rik, C430010P07Rik |
MMRRC Submission |
067610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R8187 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
66758407-66856721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66840896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 135
(I135F)
|
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: I135F
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000063843 Gene: ENSMUSG00000026004 AA Change: I135F
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 |
possibly damaging
Transcript: ENSMUST00000113987
AA Change: I135F
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109620 Gene: ENSMUSG00000026004 AA Change: I135F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
T |
1: 120,115,913 (GRCm39) |
*122L |
probably null |
Het |
4930438A08Rik |
A |
G |
11: 58,180,548 (GRCm39) |
S200G |
|
Het |
Adgre1 |
T |
A |
17: 57,727,349 (GRCm39) |
S426R |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,732,446 (GRCm39) |
E229G |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef39 |
A |
T |
4: 43,498,999 (GRCm39) |
L84Q |
probably damaging |
Het |
Bpifb9a |
A |
G |
2: 154,111,377 (GRCm39) |
I544V |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,803,934 (GRCm39) |
L2079I |
probably damaging |
Het |
Ccnh |
T |
A |
13: 85,337,656 (GRCm39) |
M1K |
probably null |
Het |
Cdh16 |
T |
C |
8: 105,344,870 (GRCm39) |
N415S |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,079,551 (GRCm39) |
N317D |
probably benign |
Het |
Cnot10 |
A |
T |
9: 114,426,556 (GRCm39) |
C665* |
probably null |
Het |
Csmd1 |
G |
T |
8: 16,177,188 (GRCm39) |
H1358Q |
probably damaging |
Het |
Cyp4f37 |
T |
C |
17: 32,854,171 (GRCm39) |
V540A |
probably benign |
Het |
Daam1 |
A |
G |
12: 71,942,602 (GRCm39) |
D22G |
unknown |
Het |
Dhdds |
A |
G |
4: 133,727,679 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,384,355 (GRCm39) |
V3033A |
probably damaging |
Het |
Dync1i2 |
A |
G |
2: 71,044,865 (GRCm39) |
K25R |
probably benign |
Het |
Efhc1 |
T |
A |
1: 21,030,396 (GRCm39) |
S110T |
probably damaging |
Het |
Emilin3 |
T |
C |
2: 160,750,000 (GRCm39) |
N583S |
possibly damaging |
Het |
Eri2 |
A |
G |
7: 119,384,767 (GRCm39) |
V578A |
probably damaging |
Het |
F2rl2 |
A |
T |
13: 95,837,911 (GRCm39) |
I319L |
probably benign |
Het |
Gjd3 |
A |
C |
11: 102,691,381 (GRCm39) |
Y207* |
probably null |
Het |
Gm19965 |
T |
A |
1: 116,749,532 (GRCm39) |
C404* |
probably null |
Het |
Gm2832 |
A |
T |
14: 41,000,915 (GRCm39) |
H51L |
|
Het |
Gpam |
T |
C |
19: 55,066,269 (GRCm39) |
T631A |
probably benign |
Het |
Hdac2 |
T |
C |
10: 36,864,132 (GRCm39) |
S114P |
probably damaging |
Het |
Hsd3b1 |
T |
A |
3: 98,759,933 (GRCm39) |
T353S |
probably damaging |
Het |
Idh1 |
T |
C |
1: 65,198,700 (GRCm39) |
D390G |
probably damaging |
Het |
Il36g |
T |
G |
2: 24,082,617 (GRCm39) |
L131V |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,266,021 (GRCm39) |
P732T |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,667,327 (GRCm39) |
V208A |
possibly damaging |
Het |
Mgrn1 |
A |
G |
16: 4,738,229 (GRCm39) |
N261S |
probably benign |
Het |
Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nr1h5 |
G |
T |
3: 102,861,986 (GRCm39) |
H94Q |
probably benign |
Het |
Nsmce4a |
A |
G |
7: 130,144,519 (GRCm39) |
V128A |
probably benign |
Het |
Or5w14 |
T |
G |
2: 87,541,624 (GRCm39) |
S209R |
probably benign |
Het |
Or6y1 |
TTGTGTG |
TTGTG |
1: 174,276,838 (GRCm39) |
|
probably null |
Het |
Osmr |
T |
A |
15: 6,850,485 (GRCm39) |
Y707F |
probably damaging |
Het |
Pck1 |
G |
T |
2: 172,997,033 (GRCm39) |
R225L |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,191,708 (GRCm39) |
L354Q |
probably damaging |
Het |
Rev3l |
C |
A |
10: 39,682,693 (GRCm39) |
Q300K |
probably benign |
Het |
Rin3 |
T |
A |
12: 102,292,066 (GRCm39) |
C88S |
unknown |
Het |
Slc37a4 |
T |
C |
9: 44,311,291 (GRCm39) |
V194A |
possibly damaging |
Het |
Smpd4 |
T |
A |
16: 17,446,999 (GRCm39) |
H242Q |
probably damaging |
Het |
Spen |
T |
C |
4: 141,200,216 (GRCm39) |
I2804V |
possibly damaging |
Het |
Srrm4 |
A |
C |
5: 116,587,680 (GRCm39) |
F359L |
unknown |
Het |
Svs5 |
A |
G |
2: 164,079,692 (GRCm39) |
Y72H |
possibly damaging |
Het |
Tmem158 |
T |
A |
9: 123,088,875 (GRCm39) |
T246S |
unknown |
Het |
Ttn |
A |
G |
2: 76,633,735 (GRCm39) |
V14038A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,559,790 (GRCm39) |
I29537T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,626,069 (GRCm39) |
S14997P |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,893 (GRCm39) |
D7E |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,368,420 (GRCm39) |
S191P |
probably benign |
Het |
Zfp599 |
G |
T |
9: 22,161,111 (GRCm39) |
Y351* |
probably null |
Het |
Zfp729a |
T |
A |
13: 67,769,918 (GRCm39) |
K104* |
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 |
R0720:Kansl1l
|
UTSW |
1 |
66,840,515 (GRCm39) |
missense |
possibly damaging |
0.52 |
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 |
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'- CACATCTGAGTGGCTAGGTC -3'
(R):5'- CAGGCTTCAAAACATTTTCAGACAG -3'
Sequencing Primer
(F):5'- CATCTGAGTGGCTAGGTCCAATTTTC -3'
(R):5'- TGGAGTCCAACTGCAGTA -3'
|
Posted On |
2020-07-13 |