Incidental Mutation 'R0040:Kank4'
ID |
64659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kank4
|
Ensembl Gene |
ENSMUSG00000035407 |
Gene Name |
KN motif and ankyrin repeat domains 4 |
Synonyms |
Ankrd38 |
MMRRC Submission |
038334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0040 (G1)
|
Quality Score |
159 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98667457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 330
(V330A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
AlphaFold |
Q6P9J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102790
AA Change: V330A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099851 Gene: ENSMUSG00000035407 AA Change: V330A
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 |
0.0725 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.6%
|
Validation Efficiency |
100% (88/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Antxr2 |
G |
A |
5: 98,086,284 (GRCm39) |
T441I |
possibly damaging |
Het |
Apcs |
A |
G |
1: 172,722,023 (GRCm39) |
Y108H |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,988,840 (GRCm39) |
T666A |
probably benign |
Het |
Atcay |
C |
T |
10: 81,046,353 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,159,196 (GRCm39) |
D141G |
probably damaging |
Het |
Ceacam10 |
A |
G |
7: 24,477,689 (GRCm39) |
Y68C |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,812,901 (GRCm39) |
Q1344L |
probably benign |
Het |
Cyb5r4 |
A |
G |
9: 86,948,795 (GRCm39) |
|
probably null |
Het |
Cyp2b9 |
G |
T |
7: 25,872,899 (GRCm39) |
S14I |
possibly damaging |
Het |
Dusp12 |
A |
G |
1: 170,708,226 (GRCm39) |
Y164H |
probably damaging |
Het |
Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,479,441 (GRCm39) |
D2829G |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,691,371 (GRCm39) |
T671A |
probably damaging |
Het |
Fbxo28 |
G |
T |
1: 182,153,805 (GRCm39) |
|
probably benign |
Het |
Fbxo44 |
A |
G |
4: 148,243,152 (GRCm39) |
L89P |
probably damaging |
Het |
Fndc3b |
T |
A |
3: 27,610,266 (GRCm39) |
|
probably null |
Het |
Gm9955 |
G |
T |
18: 24,842,209 (GRCm39) |
|
probably benign |
Het |
Gprc6a |
T |
A |
10: 51,491,080 (GRCm39) |
K819* |
probably null |
Het |
Gxylt1 |
A |
T |
15: 93,152,436 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
T |
C |
19: 58,788,056 (GRCm39) |
T589A |
probably benign |
Het |
Idh2 |
A |
G |
7: 79,747,570 (GRCm39) |
S317P |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,421 (GRCm39) |
|
probably null |
Het |
Ifna16 |
G |
A |
4: 88,594,867 (GRCm39) |
A76V |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,246,638 (GRCm39) |
E1127K |
probably damaging |
Het |
Kpna1 |
T |
A |
16: 35,843,611 (GRCm39) |
D328E |
probably damaging |
Het |
Krt71 |
T |
A |
15: 101,646,868 (GRCm39) |
H280L |
possibly damaging |
Het |
Lrrc37 |
G |
A |
11: 103,433,816 (GRCm39) |
P942S |
probably damaging |
Het |
Mapt |
A |
G |
11: 104,196,224 (GRCm39) |
M446V |
probably damaging |
Het |
Med1 |
C |
T |
11: 98,057,081 (GRCm39) |
|
probably null |
Het |
Mif |
T |
A |
10: 75,695,614 (GRCm39) |
H63L |
probably damaging |
Het |
Mycbp2 |
A |
G |
14: 103,461,708 (GRCm39) |
V1447A |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,821,148 (GRCm39) |
I451N |
probably damaging |
Het |
Nme2 |
A |
T |
11: 93,842,756 (GRCm39) |
|
probably null |
Het |
Nubp1 |
A |
G |
16: 10,238,981 (GRCm39) |
T199A |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,089,212 (GRCm39) |
V1165D |
probably damaging |
Het |
Nup98 |
T |
A |
7: 101,841,241 (GRCm39) |
T122S |
probably damaging |
Het |
Or14a258 |
A |
T |
7: 86,035,715 (GRCm39) |
L51Q |
probably benign |
Het |
Or1n2 |
T |
C |
2: 36,797,470 (GRCm39) |
F171L |
probably damaging |
Het |
Or5j1 |
C |
T |
2: 86,879,548 (GRCm39) |
E11K |
probably damaging |
Het |
Or6c202 |
T |
A |
10: 128,996,608 (GRCm39) |
I82L |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,676,979 (GRCm39) |
Y1170F |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,661,665 (GRCm39) |
D536G |
probably damaging |
Het |
Phrf1 |
G |
T |
7: 140,823,770 (GRCm39) |
R196L |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,204 (GRCm39) |
R46L |
probably benign |
Het |
Rbm39 |
G |
A |
2: 155,990,099 (GRCm39) |
T496I |
possibly damaging |
Het |
Rpl14 |
C |
G |
9: 120,401,167 (GRCm39) |
F3L |
possibly damaging |
Het |
Rtf2 |
G |
A |
2: 172,286,616 (GRCm39) |
S40N |
probably damaging |
Het |
Runx2 |
G |
A |
17: 44,919,141 (GRCm39) |
S481L |
possibly damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,782,286 (GRCm39) |
Y143N |
possibly damaging |
Het |
Siglec15 |
G |
A |
18: 78,092,092 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
T |
A |
15: 100,687,727 (GRCm39) |
I288N |
probably damaging |
Het |
Ttc38 |
C |
A |
15: 85,725,690 (GRCm39) |
F184L |
probably damaging |
Het |
Vmn1r28 |
T |
C |
6: 58,242,879 (GRCm39) |
Y241H |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,816,346 (GRCm39) |
V59D |
probably benign |
Het |
Wdpcp |
A |
G |
11: 21,661,638 (GRCm39) |
I303M |
probably damaging |
Het |
Zc3h12d |
G |
A |
10: 7,743,678 (GRCm39) |
A483T |
probably benign |
Het |
Zfp106 |
C |
A |
2: 120,362,094 (GRCm39) |
K1008N |
probably damaging |
Het |
Zfp334 |
A |
G |
2: 165,223,492 (GRCm39) |
Y184H |
probably benign |
Het |
Zfp68 |
G |
A |
5: 138,606,041 (GRCm39) |
T94I |
probably benign |
Het |
Zkscan3 |
A |
T |
13: 21,579,090 (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 |
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 |
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'- TCAGTGTTCACCGTGGCATCAG -3'
(R):5'- ACCTCAAGGCTTCAAGTCACCTCTC -3'
Sequencing Primer
(F):5'- TCTTCTAAATGGGCTACAGTGC -3'
(R):5'- AGTCACCTCTCTCAGCCAGG -3'
|
Posted On |
2013-08-06 |