Incidental Mutation 'R4502:Kank4'
ID |
331844 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kank4
|
Ensembl Gene |
ENSMUSG00000035407 |
Gene Name |
KN motif and ankyrin repeat domains 4 |
Synonyms |
Ankrd38 |
MMRRC Submission |
041754-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R4502 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 98665335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 653
(S653L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
AlphaFold |
Q6P9J5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102790
AA Change: S653L
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099851 Gene: ENSMUSG00000035407 AA Change: S653L
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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1b |
A |
C |
3: 20,369,962 (GRCm39) |
Y215D |
probably damaging |
Het |
Arf5 |
T |
C |
6: 28,425,775 (GRCm39) |
V123A |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
G |
9: 53,407,246 (GRCm39) |
V1164A |
possibly damaging |
Het |
Atp6v0d1 |
A |
G |
8: 106,292,430 (GRCm39) |
C39R |
probably damaging |
Het |
Bmp8a |
T |
A |
4: 123,236,192 (GRCm39) |
S104C |
probably damaging |
Het |
Cand1 |
T |
C |
10: 119,052,572 (GRCm39) |
T185A |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,782,560 (GRCm39) |
E1284G |
probably damaging |
Het |
Chodl |
A |
G |
16: 78,728,332 (GRCm39) |
S26G |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,987,892 (GRCm39) |
P620S |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,387,837 (GRCm39) |
|
probably benign |
Het |
Dpyd |
G |
T |
3: 118,591,186 (GRCm39) |
G225C |
probably damaging |
Het |
Dst |
G |
A |
1: 34,286,772 (GRCm39) |
V5560M |
probably damaging |
Het |
Eea1 |
G |
A |
10: 95,875,427 (GRCm39) |
E1233K |
probably benign |
Het |
Fryl |
T |
C |
5: 73,245,740 (GRCm39) |
D1139G |
probably damaging |
Het |
Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
Hc |
T |
C |
2: 34,896,264 (GRCm39) |
D1173G |
probably benign |
Het |
Htr2a |
T |
A |
14: 74,879,428 (GRCm39) |
M19K |
probably benign |
Het |
Kcnt2 |
G |
T |
1: 140,435,485 (GRCm39) |
C484F |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,755,282 (GRCm39) |
S158P |
probably benign |
Het |
Ldb2 |
T |
C |
5: 44,826,749 (GRCm39) |
D62G |
probably damaging |
Het |
Ldhb |
T |
C |
6: 142,436,183 (GRCm39) |
K329E |
possibly damaging |
Het |
Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
Or2p2 |
A |
T |
13: 21,256,916 (GRCm39) |
I185N |
probably damaging |
Het |
Or5k15 |
T |
C |
16: 58,710,539 (GRCm39) |
I15V |
probably benign |
Het |
Or6aa1 |
T |
A |
7: 86,044,485 (GRCm39) |
T74S |
possibly damaging |
Het |
Pi4kb |
T |
A |
3: 94,903,918 (GRCm39) |
H501Q |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,435,750 (GRCm39) |
K910R |
probably benign |
Het |
Ppp1r12a |
G |
T |
10: 108,085,339 (GRCm39) |
R428I |
probably benign |
Het |
Rbbp8nl |
G |
T |
2: 179,920,989 (GRCm39) |
T465N |
possibly damaging |
Het |
Rpl5 |
T |
C |
5: 108,052,723 (GRCm39) |
F223S |
possibly damaging |
Het |
Scpep1 |
T |
C |
11: 88,835,211 (GRCm39) |
K154R |
probably benign |
Het |
Sil1 |
T |
C |
18: 35,450,928 (GRCm39) |
Y249C |
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,067,964 (GRCm39) |
L1017Q |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,556,154 (GRCm39) |
N264S |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,539,787 (GRCm39) |
M345V |
probably benign |
Het |
Tdrd5 |
T |
A |
1: 156,128,334 (GRCm39) |
M141L |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,960,259 (GRCm39) |
C182R |
probably damaging |
Het |
Thap4 |
T |
C |
1: 93,678,709 (GRCm39) |
|
probably null |
Het |
Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,991 (GRCm39) |
R973* |
probably null |
Het |
Ulk3 |
A |
G |
9: 57,500,512 (GRCm39) |
Y307C |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,912,284 (GRCm39) |
L1001P |
probably damaging |
Het |
Vmn2r80 |
A |
T |
10: 78,984,764 (GRCm39) |
T39S |
probably benign |
Het |
Vps33b |
G |
A |
7: 79,937,655 (GRCm39) |
A468T |
possibly damaging |
Het |
Wnt9a |
T |
C |
11: 59,219,363 (GRCm39) |
S130P |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,655,079 (GRCm39) |
E730G |
probably benign |
Het |
Zfp689 |
C |
A |
7: 127,047,925 (GRCm39) |
V36L |
probably benign |
Het |
Zfp938 |
A |
G |
10: 82,062,105 (GRCm39) |
S172P |
possibly damaging |
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 |
R2656:Kank4
|
UTSW |
4 |
98,667,194 (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 |
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'- ATGGGGATTGAGTCCTGCAG -3'
(R):5'- ATTGAGCATGAGGGCCTCTG -3'
Sequencing Primer
(F):5'- ACAGATGTGTTTCCTAGGGAAG -3'
(R):5'- CATCTGGTCTGCATTACC -3'
|
Posted On |
2015-07-21 |