Incidental Mutation 'R8431:Kank4'
| ID |
653739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank4
|
| Ensembl Gene |
ENSMUSG00000035407 |
| Gene Name |
KN motif and ankyrin repeat domains 4 |
| Synonyms |
Ankrd38 |
| MMRRC Submission |
067776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98667509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 313
(I313V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
| AlphaFold |
Q6P9J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102790
AA Change: I313V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: I313V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,873 (GRCm39) |
F273S |
|
Het |
| Abhd14b |
G |
T |
9: 106,328,612 (GRCm39) |
A78S |
probably benign |
Het |
| Adamtsl5 |
G |
A |
10: 80,181,228 (GRCm39) |
P51L |
probably benign |
Het |
| Adap1 |
A |
C |
5: 139,259,180 (GRCm39) |
F336V |
probably benign |
Het |
| Ankrd33b |
T |
C |
15: 31,305,248 (GRCm39) |
N172S |
probably damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,464 (GRCm39) |
E560G |
possibly damaging |
Het |
| Ascc2 |
A |
T |
11: 4,614,227 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Card6 |
A |
T |
15: 5,129,758 (GRCm39) |
F546Y |
probably damaging |
Het |
| Cby3 |
T |
G |
11: 50,250,084 (GRCm39) |
S2A |
probably damaging |
Het |
| Cct3 |
T |
C |
3: 88,225,831 (GRCm39) |
S385P |
possibly damaging |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Cpne3 |
C |
A |
4: 19,526,316 (GRCm39) |
A408S |
probably damaging |
Het |
| Ctsr |
A |
C |
13: 61,308,304 (GRCm39) |
L280R |
probably damaging |
Het |
| D930048N14Rik |
GGG |
GGGG |
11: 51,541,946 (GRCm39) |
|
probably null |
Het |
| Dlg4 |
A |
G |
11: 69,930,388 (GRCm39) |
I388V |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,633 (GRCm39) |
I94F |
probably benign |
Het |
| Eftud2 |
C |
A |
11: 102,737,062 (GRCm39) |
A573S |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,811,910 (GRCm39) |
P2743Q |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Ier5 |
C |
A |
1: 154,974,306 (GRCm39) |
D291Y |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,558,070 (GRCm39) |
I223V |
unknown |
Het |
| Ifi208 |
T |
C |
1: 173,510,844 (GRCm39) |
V333A |
possibly damaging |
Het |
| Klhl7 |
T |
C |
5: 24,343,473 (GRCm39) |
V263A |
possibly damaging |
Het |
| Klrg2 |
T |
C |
6: 38,605,122 (GRCm39) |
D314G |
probably benign |
Het |
| Lrr1 |
T |
C |
12: 69,225,470 (GRCm39) |
M382T |
possibly damaging |
Het |
| Ly6e |
A |
T |
15: 74,830,190 (GRCm39) |
Q48L |
probably benign |
Het |
| Marchf6 |
C |
T |
15: 31,505,892 (GRCm39) |
W43* |
probably null |
Het |
| Mepe |
A |
G |
5: 104,486,047 (GRCm39) |
T396A |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,174,440 (GRCm39) |
L229R |
possibly damaging |
Het |
| Ndufa10 |
C |
G |
1: 92,379,732 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
A |
8: 61,487,066 (GRCm39) |
A272E |
possibly damaging |
Het |
| Nr1h2 |
T |
C |
7: 44,199,767 (GRCm39) |
Y384C |
probably damaging |
Het |
| Or4c118 |
C |
A |
2: 88,974,723 (GRCm39) |
V215F |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,975,078 (GRCm39) |
F294S |
unknown |
Het |
| Polr3e |
A |
T |
7: 120,530,528 (GRCm39) |
I173F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,671,952 (GRCm39) |
R464* |
probably null |
Het |
| Ppp1r9a |
T |
A |
6: 5,115,456 (GRCm39) |
S860T |
probably benign |
Het |
| Rnf144a |
T |
C |
12: 26,377,300 (GRCm39) |
Y93C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,673,894 (GRCm39) |
E3390G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,534,164 (GRCm39) |
T504A |
possibly damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,018,904 (GRCm39) |
D645A |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Ston2 |
T |
A |
12: 91,615,071 (GRCm39) |
I446F |
probably damaging |
Het |
| Tcp11l1 |
G |
A |
2: 104,530,314 (GRCm39) |
P57S |
probably damaging |
Het |
| Th |
G |
T |
7: 142,446,801 (GRCm39) |
H488Q |
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,095,661 (GRCm39) |
I61N |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,049,481 (GRCm39) |
|
probably null |
Het |
| Xpnpep1 |
T |
C |
19: 52,983,937 (GRCm39) |
N596S |
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 |
|
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 |
|
|
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'- TTCTTCCTGCTGCTCAAGGG -3'
(R):5'- TCAAGTCACCTCTCTCAGCCAG -3'
Sequencing Primer
(F):5'- TGCTCAAGGGCAGCTCTGAC -3'
(R):5'- AGGTCCTTCCTCCGCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation