Incidental Mutation 'R4351:Ak6'
| ID |
328519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak6
|
| Ensembl Gene |
ENSMUSG00000078941 |
| Gene Name |
adenylate kinase 6 |
| Synonyms |
2810046E22Rik, 4921516M08Rik |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
182 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100787851-100802923 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 100792111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 185
(Q185*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022135]
[ENSMUST00000022136]
[ENSMUST00000084721]
[ENSMUST00000167256]
[ENSMUST00000177848]
[ENSMUST00000185767]
[ENSMUST00000190594]
[ENSMUST00000187792]
[ENSMUST00000226050]
[ENSMUST00000190165]
[ENSMUST00000190729]
|
| 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 null
Transcript: ENSMUST00000084721
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941
AA Change: Q185*
| 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 null
Transcript: ENSMUST00000167256
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293
AA Change: Q185*
| 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 null
Transcript: ENSMUST00000190594
AA Change: Q185*
|
| SMART Domains |
Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293
AA Change: Q185*
| 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 |
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 |
|
| 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 |
probably benign
Transcript: ENSMUST00000190729
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| 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 |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,535 (GRCm39) |
Y27H |
probably benign |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
probably 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 |
|
|
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 |
|
|
R6386:Ak6
|
UTSW |
13 |
100,792,311 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TATTCAGGTCCTAGATTGCCACC -3'
(R):5'- TTCAGTGCATTTGCTGACTCG -3'
Sequencing Primer
(F):5'- AGGTCCTAGATTGCCACCTGATAG -3'
(R):5'- GACTCGGCTGTATTCTGTGATACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation