Incidental Mutation 'R3804:Kank4'
| ID |
274485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank4
|
| Ensembl Gene |
ENSMUSG00000035407 |
| Gene Name |
KN motif and ankyrin repeat domains 4 |
| Synonyms |
Ankrd38 |
| MMRRC Submission |
040879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98668370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 26
(S26P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
| AlphaFold |
Q6P9J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102790
AA Change: S26P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: S26P
| 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 |
|
| Meta Mutation Damage Score |
0.0893 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
C |
T |
8: 79,974,922 (GRCm39) |
E54K |
probably benign |
Het |
| Adgra1 |
A |
G |
7: 139,425,510 (GRCm39) |
T8A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,596,629 (GRCm39) |
Y954C |
probably damaging |
Het |
| AU021092 |
A |
C |
16: 5,034,626 (GRCm39) |
F199V |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,174,184 (GRCm39) |
P1648L |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,034,756 (GRCm39) |
C1319S |
possibly damaging |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,781,668 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,494,002 (GRCm39) |
K159E |
probably damaging |
Het |
| Dgkz |
C |
A |
2: 91,769,975 (GRCm39) |
R563L |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,889,621 (GRCm39) |
E718G |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,403,048 (GRCm39) |
L1416P |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,377,464 (GRCm39) |
A110T |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,650 (GRCm39) |
K95E |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,249,943 (GRCm39) |
D30G |
probably benign |
Het |
| Gast |
T |
C |
11: 100,227,636 (GRCm39) |
S73P |
probably damaging |
Het |
| Gmppb |
T |
C |
9: 107,927,773 (GRCm39) |
Y176H |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,507,947 (GRCm39) |
T4A |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Gtf3c3 |
A |
G |
1: 54,463,166 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,242,897 (GRCm39) |
|
probably null |
Het |
| Icam2 |
A |
G |
11: 106,271,648 (GRCm39) |
L94P |
probably damaging |
Het |
| Iqcm |
C |
A |
8: 76,396,021 (GRCm39) |
T188K |
possibly damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,838,542 (GRCm39) |
K498E |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,703,816 (GRCm39) |
H181R |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,347 (GRCm39) |
D511G |
probably null |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Nrap |
C |
T |
19: 56,310,211 (GRCm39) |
D1595N |
probably damaging |
Het |
| Or1e16 |
T |
C |
11: 73,286,776 (GRCm39) |
Q24R |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,378 (GRCm39) |
I126F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,918 (GRCm39) |
D165V |
possibly damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,474 (GRCm39) |
N203K |
probably damaging |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Pgm2l1 |
T |
C |
7: 99,901,474 (GRCm39) |
V121A |
probably benign |
Het |
| Phf19 |
A |
G |
2: 34,789,670 (GRCm39) |
L350P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Phkb |
G |
T |
8: 86,648,858 (GRCm39) |
E225* |
probably null |
Het |
| Pif1 |
T |
A |
9: 65,495,588 (GRCm39) |
V166E |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Rxra |
T |
C |
2: 27,646,272 (GRCm39) |
C374R |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,170,630 (GRCm39) |
|
probably benign |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc22a15 |
C |
T |
3: 101,804,590 (GRCm39) |
G145D |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,775,969 (GRCm39) |
I222F |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,454,424 (GRCm39) |
L323P |
probably benign |
Het |
| Sorbs3 |
A |
G |
14: 70,436,800 (GRCm39) |
|
probably benign |
Het |
| Spink10 |
C |
T |
18: 62,786,485 (GRCm39) |
|
probably benign |
Het |
| Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
| Sun1 |
C |
A |
5: 139,211,117 (GRCm39) |
C164* |
probably null |
Het |
| Tax1bp1 |
T |
C |
6: 52,719,770 (GRCm39) |
F453L |
probably benign |
Het |
| Tmem54 |
A |
G |
4: 129,002,013 (GRCm39) |
N9S |
probably benign |
Het |
| Tmx4 |
A |
G |
2: 134,462,497 (GRCm39) |
W145R |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,544,688 (GRCm39) |
H268R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,641,075 (GRCm39) |
L13598P |
probably damaging |
Het |
| Vmn1r40 |
A |
G |
6: 89,691,991 (GRCm39) |
I269M |
probably benign |
Het |
| Wdr7 |
G |
T |
18: 63,853,907 (GRCm39) |
R80L |
probably benign |
Het |
| Zap70 |
A |
T |
1: 36,810,223 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
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 |
|
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'- CAGTTTTGCTGGGGAGGAACAG -3'
(R):5'- CAGACGTTGGCCAAATACAC -3'
Sequencing Primer
(F):5'- GCATAGGTGCGGTCCCC -3'
(R):5'- AAGTCCATAGGCTCAGCGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation