Incidental Mutation 'R0865:Kank4'
ID |
82289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kank4
|
Ensembl Gene |
ENSMUSG00000035407 |
Gene Name |
KN motif and ankyrin repeat domains 4 |
Synonyms |
Ankrd38 |
MMRRC Submission |
039039-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R0865 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 98662900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
AlphaFold |
Q6P9J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102790
|
SMART Domains |
Protein: ENSMUSP00000099851 Gene: ENSMUSG00000035407
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137270
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
Gga3 |
A |
T |
11: 115,483,285 (GRCm39) |
N91K |
probably damaging |
Het |
Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
Itgb1 |
A |
G |
8: 129,436,732 (GRCm39) |
|
probably null |
Het |
Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
Tmem63b |
T |
C |
17: 45,972,445 (GRCm39) |
I721V |
probably benign |
Het |
Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
Ttll10 |
A |
G |
4: 156,128,135 (GRCm39) |
L391P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
Zc3h14 |
T |
C |
12: 98,745,528 (GRCm39) |
|
probably null |
Het |
Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
A |
T |
2: 164,741,415 (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 |
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 |
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'- AGACCCTGATGGTCCAAGTATGGAG -3'
(R):5'- TCCCCTGAGGATTTGTCTGACAGTG -3'
Sequencing Primer
(F):5'- ggcatcatctcatctcccaac -3'
(R):5'- AGGATTTGTCTGACAGTGAGACC -3'
|
Posted On |
2013-11-08 |