Incidental Mutation 'R6386:Ak6'
ID |
515615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak6
|
Ensembl Gene |
ENSMUSG00000078941 |
Gene Name |
adenylate kinase 6 |
Synonyms |
2810046E22Rik, 4921516M08Rik |
MMRRC Submission |
044535-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R6386 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100787851-100802923 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
TGACGA to TGA
at 100792311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022135]
[ENSMUST00000022136]
[ENSMUST00000084721]
[ENSMUST00000167256]
[ENSMUST00000177848]
[ENSMUST00000185767]
[ENSMUST00000190594]
[ENSMUST00000190729]
[ENSMUST00000226050]
[ENSMUST00000190165]
[ENSMUST00000187792]
|
AlphaFold |
Q8VCP8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022135
|
SMART Domains |
Protein: ENSMUSP00000022135 Gene: ENSMUSG00000078941
Domain | Start | End | E-Value | Type |
Pfam:AAA_17
|
5 |
113 |
1.1e-13 |
PFAM |
Pfam:AAA
|
6 |
45 |
3.6e-6 |
PFAM |
Pfam:AAA_18
|
6 |
126 |
2e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022136
|
SMART Domains |
Protein: ENSMUSP00000022136 Gene: ENSMUSG00000021635
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
AAA
|
128 |
280 |
1.1e-4 |
SMART |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
low complexity region
|
552 |
567 |
N/A |
INTRINSIC |
low complexity region
|
619 |
635 |
N/A |
INTRINSIC |
low complexity region
|
669 |
687 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084721
|
SMART Domains |
Protein: ENSMUSP00000081772 Gene: ENSMUSG00000078941
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
2 |
130 |
7.3e-65 |
PFAM |
Pfam:Histone
|
12 |
78 |
2.7e-7 |
PFAM |
Pfam:CENP-S
|
16 |
80 |
7.6e-10 |
PFAM |
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167256
|
SMART Domains |
Protein: ENSMUSP00000132143 Gene: ENSMUSG00000052293
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
9 |
129 |
1.4e-52 |
PFAM |
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177848
|
SMART Domains |
Protein: ENSMUSP00000136292 Gene: ENSMUSG00000021635
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
AAA
|
128 |
280 |
1.1e-4 |
SMART |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
low complexity region
|
552 |
567 |
N/A |
INTRINSIC |
low complexity region
|
619 |
635 |
N/A |
INTRINSIC |
low complexity region
|
669 |
687 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185767
|
SMART Domains |
Protein: ENSMUSP00000140423 Gene: ENSMUSG00000052293
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
2 |
130 |
2.2e-62 |
PFAM |
Pfam:Bromo_TP
|
12 |
77 |
7.6e-5 |
PFAM |
Pfam:CENP-S
|
15 |
80 |
5.7e-7 |
PFAM |
Pfam:Histone
|
16 |
78 |
1e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185901
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190594
|
SMART Domains |
Protein: ENSMUSP00000140244 Gene: ENSMUSG00000052293
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
2 |
130 |
7.3e-65 |
PFAM |
Pfam:Histone
|
12 |
78 |
2.7e-7 |
PFAM |
Pfam:CENP-S
|
16 |
80 |
7.6e-10 |
PFAM |
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190729
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226050
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190165
|
SMART Domains |
Protein: ENSMUSP00000139407 Gene: ENSMUSG00000052293
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
2 |
130 |
3.8e-62 |
PFAM |
Pfam:CENP-S
|
15 |
80 |
7.9e-7 |
PFAM |
Pfam:Histone
|
16 |
78 |
1.4e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190210
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187792
|
SMART Domains |
Protein: ENSMUSP00000140051 Gene: ENSMUSG00000052293
Domain | Start | End | E-Value | Type |
Pfam:TFIID-31kDa
|
2 |
130 |
3e-62 |
PFAM |
Pfam:CENP-S
|
15 |
80 |
6.9e-7 |
PFAM |
Pfam:Histone
|
16 |
78 |
1.3e-4 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
possibly damaging |
Het |
|
Other mutations in Ak6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00592:Ak6
|
APN |
13 |
100,800,599 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4151001:Ak6
|
UTSW |
13 |
100,791,603 (GRCm39) |
missense |
probably damaging |
0.98 |
R0189:Ak6
|
UTSW |
13 |
100,791,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Ak6
|
UTSW |
13 |
100,792,177 (GRCm39) |
missense |
probably benign |
|
R1736:Ak6
|
UTSW |
13 |
100,791,689 (GRCm39) |
splice site |
probably null |
|
R4351:Ak6
|
UTSW |
13 |
100,792,111 (GRCm39) |
nonsense |
probably null |
|
R4625:Ak6
|
UTSW |
13 |
100,792,181 (GRCm39) |
missense |
probably benign |
0.00 |
R5690:Ak6
|
UTSW |
13 |
100,792,129 (GRCm39) |
splice site |
probably null |
|
R5711:Ak6
|
UTSW |
13 |
100,790,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R5870:Ak6
|
UTSW |
13 |
100,791,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R6018:Ak6
|
UTSW |
13 |
100,802,459 (GRCm39) |
nonsense |
probably null |
|
R7524:Ak6
|
UTSW |
13 |
100,800,415 (GRCm39) |
missense |
probably benign |
|
R8690:Ak6
|
UTSW |
13 |
100,791,857 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9408:Ak6
|
UTSW |
13 |
100,792,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCAGTCCCCTGCTGTAAAAG -3'
(R):5'- TGTAAACCTTCAAGCTGGGG -3'
Sequencing Primer
(F):5'- CTGTAAAAGCTTCTATACCTGCAAC -3'
(R):5'- TGTGCATAAAGGTTGATGAAAAACC -3'
|
Posted On |
2018-05-04 |