Incidental Mutation 'R9291:Kank4'
| ID |
704265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank4
|
| Ensembl Gene |
ENSMUSG00000035407 |
| Gene Name |
KN motif and ankyrin repeat domains 4 |
| Synonyms |
Ankrd38 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98666688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 586
(H586Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
| AlphaFold |
Q6P9J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102790
AA Change: H586Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: H586Q
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,464 (GRCm39) |
N551S |
probably benign |
Het |
| Abcg5 |
C |
A |
17: 84,976,380 (GRCm39) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,814,493 (GRCm39) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,220,284 (GRCm39) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,964,053 (GRCm39) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,429,688 (GRCm39) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,067,476 (GRCm39) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,142,539 (GRCm39) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,682,213 (GRCm39) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,316,204 (GRCm39) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,071,590 (GRCm39) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,901,215 (GRCm39) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,099 (GRCm39) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,251 (GRCm39) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 119,921,755 (GRCm39) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,883,142 (GRCm39) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,608,959 (GRCm39) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,056,065 (GRCm39) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,560,871 (GRCm39) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,593,835 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gm8005 |
A |
G |
14: 42,258,885 (GRCm39) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,487,028 (GRCm39) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,491,522 (GRCm39) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 18,738,458 (GRCm39) |
C33S |
probably damaging |
Het |
| Kcnu1 |
A |
G |
8: 26,390,041 (GRCm39) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,475,140 (GRCm39) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,310,379 (GRCm39) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,883,938 (GRCm39) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,764,328 (GRCm39) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,575,416 (GRCm39) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,857,362 (GRCm39) |
C466F |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,890,871 (GRCm39) |
S583P |
probably benign |
Het |
| Nlrp9b |
T |
A |
7: 19,758,511 (GRCm39) |
S583T |
possibly damaging |
Het |
| Nup214 |
T |
G |
2: 31,867,806 (GRCm39) |
M91R |
probably benign |
Het |
| Or4c121 |
A |
C |
2: 89,024,138 (GRCm39) |
M80R |
possibly damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,202 (GRCm39) |
I124T |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,768 (GRCm39) |
I114N |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,372,952 (GRCm39) |
Y90C |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,825,284 (GRCm39) |
T575N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,433,372 (GRCm39) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,539,251 (GRCm39) |
Y81N |
probably benign |
Het |
| Rchy1 |
A |
G |
5: 92,099,765 (GRCm39) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,467,746 (GRCm39) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,286,880 (GRCm39) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,870,166 (GRCm39) |
C265Y |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,962,218 (GRCm39) |
V384M |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,716 (GRCm39) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,473,330 (GRCm39) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,286,694 (GRCm39) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,750 (GRCm39) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,611,535 (GRCm39) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,706,799 (GRCm39) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,153,556 (GRCm39) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,943,058 (GRCm39) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,768,068 (GRCm39) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,622,730 (GRCm39) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,428,875 (GRCm39) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,023 (GRCm39) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,847,059 (GRCm39) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,698,237 (GRCm39) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,108,014 (GRCm39) |
M464T |
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 |
|
|
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 |
|
|
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'- ATTCTCCTGAGTCCATGGGG -3'
(R):5'- TTCCTGGAGCACAAGAGAATCTG -3'
Sequencing Primer
(F):5'- AGCATGAATATTTACCTGGCGGC -3'
(R):5'- AGAGAATCTGCTCCCGTGATCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation