Incidental Mutation 'R8307:Kank4'
| ID |
641119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank4
|
| Ensembl Gene |
ENSMUSG00000035407 |
| Gene Name |
KN motif and ankyrin repeat domains 4 |
| Synonyms |
Ankrd38 |
| MMRRC Submission |
067717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 98666915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 511
(Q511*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
| AlphaFold |
Q6P9J5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102790
AA Change: Q511*
|
| SMART Domains |
Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: Q511*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
A |
4: 148,025,837 (GRCm39) |
T119K |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,227,922 (GRCm39) |
L655* |
probably null |
Het |
| Aifm2 |
A |
G |
10: 61,562,171 (GRCm39) |
Y69C |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,030 (GRCm39) |
V448I |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,770,307 (GRCm39) |
S74P |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,978,498 (GRCm39) |
K939E |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,949 (GRCm39) |
F124L |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,358,950 (GRCm39) |
Y125N |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,243,477 (GRCm39) |
Y106H |
possibly damaging |
Het |
| Chmp1a |
C |
T |
8: 123,932,980 (GRCm39) |
G158S |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,079,702 (GRCm39) |
Y1277F |
possibly damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,389 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,744,109 (GRCm39) |
D1317A |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,260,362 (GRCm39) |
M993K |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,414,297 (GRCm39) |
P44S |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,065,894 (GRCm39) |
F2078Y |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,349,642 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,347,402 (GRCm39) |
R41L |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,042,420 (GRCm39) |
T467M |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,330,707 (GRCm39) |
Q102R |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,286,127 (GRCm39) |
D2093G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Igkv1-131 |
A |
G |
6: 67,743,051 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il6st |
G |
T |
13: 112,624,281 (GRCm39) |
G177V |
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,467,634 (GRCm39) |
L248P |
probably damaging |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,586 (GRCm39) |
C187R |
unknown |
Het |
| Lonp1 |
C |
A |
17: 56,933,573 (GRCm39) |
A101S |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,058 (GRCm39) |
C1241R |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,312,333 (GRCm39) |
T308A |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,101 (GRCm39) |
D263G |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,342,307 (GRCm39) |
C1131* |
probably null |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,847 (GRCm39) |
D416G |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,284,894 (GRCm39) |
M786T |
possibly damaging |
Het |
| Pink1 |
A |
T |
4: 138,045,273 (GRCm39) |
M297K |
probably benign |
Het |
| Pln |
T |
C |
10: 53,219,975 (GRCm39) |
Y6H |
unknown |
Het |
| Ppp2r2c |
A |
G |
5: 37,104,430 (GRCm39) |
D270G |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,831,416 (GRCm39) |
L141R |
probably damaging |
Het |
| Prcd |
A |
T |
11: 116,550,199 (GRCm39) |
T76S |
possibly damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,137 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
T |
11: 79,581,600 (GRCm39) |
N532Y |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,788,308 (GRCm39) |
V592L |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,498 (GRCm39) |
D793G |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,034,242 (GRCm39) |
|
probably null |
Het |
| Srcap |
T |
A |
7: 127,124,541 (GRCm39) |
V237E |
probably damaging |
Het |
| Srl |
A |
G |
16: 4,315,009 (GRCm39) |
I211T |
probably benign |
Het |
| Tasor |
G |
T |
14: 27,193,622 (GRCm39) |
A941S |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,356,909 (GRCm39) |
V883A |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,151,223 (GRCm39) |
Y113H |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,537,909 (GRCm39) |
A267T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,086 (GRCm39) |
G140S |
|
Het |
| Vmn2r110 |
C |
A |
17: 20,803,319 (GRCm39) |
V419L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,270 (GRCm39) |
F249L |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,314,652 (GRCm39) |
D584A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,063 (GRCm39) |
C394S |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,059 (GRCm39) |
I271T |
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 |
|
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'- TTCACATACTGCCCGATTGTG -3'
(R):5'- ATCTGCTGAACACTCCGGATC -3'
Sequencing Primer
(F):5'- ATACTGCCCGATTGTGGCATC -3'
(R):5'- TGAACACTCCGGATCCTGAATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation