Incidental Mutation 'R2656:Kank4'
ID |
252725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kank4
|
Ensembl Gene |
ENSMUSG00000035407 |
Gene Name |
KN motif and ankyrin repeat domains 4 |
Synonyms |
Ankrd38 |
MMRRC Submission |
040431-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R2656 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98667194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 418
(N418D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
AlphaFold |
Q6P9J5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102790
AA Change: N418D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099851 Gene: ENSMUSG00000035407 AA Change: N418D
Domain | Start | End | E-Value | Type |
Pfam:KN_motif
|
24 |
62 |
5.6e-26 |
PFAM |
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
low complexity region
|
300 |
320 |
N/A |
INTRINSIC |
coiled coil region
|
345 |
409 |
N/A |
INTRINSIC |
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
low complexity region
|
600 |
624 |
N/A |
INTRINSIC |
low complexity region
|
625 |
655 |
N/A |
INTRINSIC |
low complexity region
|
685 |
709 |
N/A |
INTRINSIC |
ANK
|
838 |
868 |
7.42e-4 |
SMART |
ANK
|
877 |
905 |
2.08e3 |
SMART |
ANK
|
910 |
939 |
1.11e-2 |
SMART |
ANK
|
943 |
973 |
8.99e-3 |
SMART |
ANK
|
977 |
1006 |
2.43e3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
G |
5: 8,167,696 (GRCm39) |
C655R |
probably damaging |
Het |
Adgrf3 |
A |
T |
5: 30,401,436 (GRCm39) |
V864D |
possibly damaging |
Het |
Angptl3 |
A |
G |
4: 98,926,201 (GRCm39) |
I444V |
probably benign |
Het |
Atp8b2 |
C |
T |
3: 89,849,065 (GRCm39) |
A1090T |
probably benign |
Het |
Bcl2l2 |
C |
T |
14: 55,122,889 (GRCm39) |
R47C |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,462,766 (GRCm39) |
M118I |
probably benign |
Het |
Cyp4a29 |
T |
G |
4: 115,106,921 (GRCm39) |
L193V |
possibly damaging |
Het |
Dpp8 |
A |
G |
9: 64,988,086 (GRCm39) |
Y877C |
probably damaging |
Het |
Enpp6 |
C |
T |
8: 47,535,453 (GRCm39) |
R33* |
probably null |
Het |
Fsip2 |
G |
A |
2: 82,809,389 (GRCm39) |
D1903N |
possibly damaging |
Het |
Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
Gm14412 |
A |
T |
2: 177,006,993 (GRCm39) |
C301S |
unknown |
Het |
Gpatch2l |
T |
A |
12: 86,335,584 (GRCm39) |
D428E |
probably damaging |
Het |
Grin2b |
C |
T |
6: 135,710,427 (GRCm39) |
G1040S |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,545,224 (GRCm39) |
D126G |
possibly damaging |
Het |
Itgam |
T |
G |
7: 127,715,987 (GRCm39) |
L1120R |
probably null |
Het |
Kcnk3 |
T |
C |
5: 30,780,015 (GRCm39) |
V355A |
possibly damaging |
Het |
Lonrf2 |
C |
T |
1: 38,855,041 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
T |
2: 41,401,593 (GRCm39) |
C240S |
probably damaging |
Het |
Mapk8ip3 |
T |
G |
17: 25,131,781 (GRCm39) |
E386A |
probably damaging |
Het |
Mtmr14 |
A |
G |
6: 113,217,327 (GRCm39) |
I80V |
probably benign |
Het |
Nav2 |
A |
C |
7: 49,195,690 (GRCm39) |
D961A |
probably damaging |
Het |
Nmt2 |
A |
G |
2: 3,308,050 (GRCm39) |
D107G |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,394,681 (GRCm39) |
K761E |
probably damaging |
Het |
Ogdh |
A |
G |
11: 6,298,678 (GRCm39) |
T641A |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,054,783 (GRCm39) |
F244V |
possibly damaging |
Het |
Or2ag17 |
T |
A |
7: 106,389,720 (GRCm39) |
T163S |
probably damaging |
Het |
Or51k1 |
G |
A |
7: 103,661,072 (GRCm39) |
S279L |
probably damaging |
Het |
Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
Or5b97 |
A |
G |
19: 12,879,030 (GRCm39) |
I38T |
probably benign |
Het |
Pfpl |
T |
C |
19: 12,407,600 (GRCm39) |
I617T |
probably benign |
Het |
Ppfia2 |
T |
G |
10: 106,701,268 (GRCm39) |
|
probably null |
Het |
Prickle1 |
T |
C |
15: 93,401,251 (GRCm39) |
E411G |
probably benign |
Het |
Prpsap2 |
C |
A |
11: 61,621,051 (GRCm39) |
M343I |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,643,717 (GRCm39) |
V72A |
probably benign |
Het |
Ranbp17 |
A |
T |
11: 33,193,122 (GRCm39) |
D977E |
probably benign |
Het |
Rin1 |
T |
C |
19: 5,102,204 (GRCm39) |
S238P |
probably damaging |
Het |
Scap |
C |
T |
9: 110,203,087 (GRCm39) |
R254W |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,356,862 (GRCm39) |
D194G |
probably damaging |
Het |
Shisa7 |
T |
C |
7: 4,832,818 (GRCm39) |
H481R |
possibly damaging |
Het |
Slc6a6 |
T |
C |
6: 91,718,029 (GRCm39) |
Y323H |
probably damaging |
Het |
Thoc2l |
A |
G |
5: 104,667,181 (GRCm39) |
I568V |
probably benign |
Het |
Tlr9 |
T |
C |
9: 106,101,140 (GRCm39) |
S144P |
probably benign |
Het |
Tmem69 |
T |
A |
4: 116,410,787 (GRCm39) |
K61M |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,770,331 (GRCm39) |
D134G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,724,614 (GRCm39) |
|
probably benign |
Het |
Vwf |
A |
G |
6: 125,532,324 (GRCm39) |
T26A |
probably benign |
Het |
Zbtb16 |
A |
T |
9: 48,743,988 (GRCm39) |
I108N |
probably damaging |
Het |
Zc3h7b |
T |
A |
15: 81,664,631 (GRCm39) |
Y497N |
probably damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,155 (GRCm39) |
S27G |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,666 (GRCm39) |
T632A |
possibly damaging |
Het |
Znhit6 |
T |
C |
3: 145,283,924 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Kank4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01069:Kank4
|
APN |
4 |
98,666,632 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02634:Kank4
|
APN |
4 |
98,667,064 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02883:Kank4
|
APN |
4 |
98,661,690 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0040:Kank4
|
UTSW |
4 |
98,667,457 (GRCm39) |
missense |
probably benign |
0.03 |
R0040:Kank4
|
UTSW |
4 |
98,667,457 (GRCm39) |
missense |
probably benign |
0.03 |
R0081:Kank4
|
UTSW |
4 |
98,666,567 (GRCm39) |
missense |
probably benign |
0.02 |
R0219:Kank4
|
UTSW |
4 |
98,666,702 (GRCm39) |
missense |
probably benign |
0.06 |
R0498:Kank4
|
UTSW |
4 |
98,667,873 (GRCm39) |
missense |
probably benign |
|
R0609:Kank4
|
UTSW |
4 |
98,665,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R0855:Kank4
|
UTSW |
4 |
98,659,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Kank4
|
UTSW |
4 |
98,662,900 (GRCm39) |
splice site |
probably benign |
|
R0961:Kank4
|
UTSW |
4 |
98,644,756 (GRCm39) |
missense |
probably benign |
0.02 |
R1172:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1173:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1175:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Kank4
|
UTSW |
4 |
98,668,175 (GRCm39) |
missense |
probably damaging |
0.98 |
R1517:Kank4
|
UTSW |
4 |
98,667,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1573:Kank4
|
UTSW |
4 |
98,663,073 (GRCm39) |
nonsense |
probably null |
|
R1668:Kank4
|
UTSW |
4 |
98,667,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R2051:Kank4
|
UTSW |
4 |
98,668,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R2253:Kank4
|
UTSW |
4 |
98,667,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R3801:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
R3802:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
R3804:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
R3945:Kank4
|
UTSW |
4 |
98,659,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4172:Kank4
|
UTSW |
4 |
98,667,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R4502:Kank4
|
UTSW |
4 |
98,665,335 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4503:Kank4
|
UTSW |
4 |
98,665,335 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5024:Kank4
|
UTSW |
4 |
98,673,898 (GRCm39) |
missense |
probably damaging |
0.99 |
R5105:Kank4
|
UTSW |
4 |
98,667,396 (GRCm39) |
missense |
probably benign |
0.01 |
R5122:Kank4
|
UTSW |
4 |
98,644,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Kank4
|
UTSW |
4 |
98,667,209 (GRCm39) |
missense |
probably benign |
|
R5484:Kank4
|
UTSW |
4 |
98,663,022 (GRCm39) |
missense |
probably benign |
|
R5517:Kank4
|
UTSW |
4 |
98,663,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R5550:Kank4
|
UTSW |
4 |
98,659,678 (GRCm39) |
missense |
probably benign |
0.27 |
R5667:Kank4
|
UTSW |
4 |
98,653,698 (GRCm39) |
critical splice donor site |
probably null |
|
R5671:Kank4
|
UTSW |
4 |
98,653,698 (GRCm39) |
critical splice donor site |
probably null |
|
R5865:Kank4
|
UTSW |
4 |
98,659,630 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6176:Kank4
|
UTSW |
4 |
98,653,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R6778:Kank4
|
UTSW |
4 |
98,649,742 (GRCm39) |
missense |
probably benign |
0.01 |
R7084:Kank4
|
UTSW |
4 |
98,659,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R7085:Kank4
|
UTSW |
4 |
98,668,183 (GRCm39) |
missense |
probably benign |
|
R7112:Kank4
|
UTSW |
4 |
98,649,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R8307:Kank4
|
UTSW |
4 |
98,666,915 (GRCm39) |
nonsense |
probably null |
|
R8431:Kank4
|
UTSW |
4 |
98,667,509 (GRCm39) |
missense |
probably benign |
0.33 |
R8447:Kank4
|
UTSW |
4 |
98,666,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R8483:Kank4
|
UTSW |
4 |
98,659,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R8505:Kank4
|
UTSW |
4 |
98,673,913 (GRCm39) |
start gained |
probably benign |
|
R8805:Kank4
|
UTSW |
4 |
98,668,273 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8823:Kank4
|
UTSW |
4 |
98,668,240 (GRCm39) |
missense |
probably damaging |
0.99 |
R8888:Kank4
|
UTSW |
4 |
98,653,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8895:Kank4
|
UTSW |
4 |
98,653,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9155:Kank4
|
UTSW |
4 |
98,666,563 (GRCm39) |
missense |
probably benign |
|
R9189:Kank4
|
UTSW |
4 |
98,668,289 (GRCm39) |
nonsense |
probably null |
|
R9291:Kank4
|
UTSW |
4 |
98,666,688 (GRCm39) |
missense |
probably benign |
0.00 |
R9509:Kank4
|
UTSW |
4 |
98,663,104 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9618:Kank4
|
UTSW |
4 |
98,653,732 (GRCm39) |
missense |
possibly damaging |
0.76 |
X0027:Kank4
|
UTSW |
4 |
98,668,160 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Kank4
|
UTSW |
4 |
98,666,531 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCAATCCGGAGCTCCATG -3'
(R):5'- AGAACAGAAGAGCTTGCCC -3'
Sequencing Primer
(F):5'- TCCCCTTGGCAGTGACAGTTG -3'
(R):5'- AGAAGAGCTTGCCCGGGTC -3'
|
Posted On |
2014-12-04 |