Incidental Mutation 'R5690:Ak6'
| ID |
443645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak6
|
| Ensembl Gene |
ENSMUSG00000078941 |
| Gene Name |
adenylate kinase 6 |
| Synonyms |
2810046E22Rik, 4921516M08Rik |
| MMRRC Submission |
043323-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5690 (G1)
|
| Quality Score |
187 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100787851-100802923 bp(+) (GRCm39) |
| Type of Mutation |
splice site (26 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 100792129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022135]
[ENSMUST00000022136]
[ENSMUST00000084721]
[ENSMUST00000167256]
[ENSMUST00000177848]
[ENSMUST00000185767]
[ENSMUST00000187792]
[ENSMUST00000190165]
[ENSMUST00000190594]
[ENSMUST00000190729]
[ENSMUST00000226050]
|
| 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
AA Change: M191V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941
AA Change: M191V
| 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
AA Change: M191V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293
AA Change: M191V
| 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 null
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: 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 null
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: ENSMUST00000190594
AA Change: M191V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293
AA Change: M191V
| 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: ENSMUST00000190729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226050
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,759,144 (GRCm39) |
|
probably benign |
Het |
| Acadl |
T |
C |
1: 66,892,445 (GRCm39) |
Y126C |
probably damaging |
Het |
| Ap1s1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
5: 137,066,233 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp6v1e1 |
A |
T |
6: 120,785,317 (GRCm39) |
|
probably null |
Het |
| Axin1 |
A |
G |
17: 26,413,911 (GRCm39) |
Y792C |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,607,996 (GRCm39) |
N233S |
probably benign |
Het |
| Ccer2 |
C |
A |
7: 28,455,629 (GRCm39) |
|
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,218,269 (GRCm39) |
S1481P |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,806,019 (GRCm39) |
T2277S |
probably benign |
Het |
| Ctsl |
T |
A |
13: 64,513,022 (GRCm39) |
N300I |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,382,370 (GRCm39) |
I1247V |
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,655,108 (GRCm39) |
Q135L |
probably benign |
Het |
| Efcab14 |
G |
A |
4: 115,617,244 (GRCm39) |
V318M |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,810,647 (GRCm39) |
S910N |
probably benign |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Frmd4b |
T |
C |
6: 97,330,164 (GRCm39) |
E133G |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,807,453 (GRCm39) |
F2514S |
probably benign |
Het |
| Il18rap |
A |
G |
1: 40,576,272 (GRCm39) |
D261G |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,318 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
C |
2: 40,640,906 (GRCm39) |
|
probably null |
Het |
| Mrpl45 |
C |
A |
11: 97,212,412 (GRCm39) |
|
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,220,101 (GRCm39) |
E150G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,386,285 (GRCm39) |
V737D |
probably damaging |
Het |
| Ncr1 |
T |
C |
7: 4,341,296 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,732 (GRCm39) |
V277E |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,784,769 (GRCm39) |
S343T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,097,346 (GRCm39) |
I171F |
probably damaging |
Het |
| Rab5if |
G |
A |
2: 156,707,234 (GRCm39) |
V58I |
probably benign |
Het |
| Rdh8 |
A |
G |
9: 20,736,785 (GRCm39) |
N259S |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,229,735 (GRCm39) |
L927S |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,586,878 (GRCm39) |
M496T |
probably benign |
Het |
| Slc8b1 |
G |
A |
5: 120,651,270 (GRCm39) |
W10* |
probably null |
Het |
| Smarcc2 |
G |
A |
10: 128,320,276 (GRCm39) |
G887S |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,996,974 (GRCm39) |
S549P |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,085,802 (GRCm39) |
M1181V |
probably benign |
Het |
| Tbx15 |
T |
C |
3: 99,216,166 (GRCm39) |
S76P |
probably damaging |
Het |
| Tbx2 |
A |
T |
11: 85,727,879 (GRCm39) |
I271F |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,644,352 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
A |
G |
2: 130,074,306 (GRCm39) |
Y333C |
probably damaging |
Het |
| Trcg1 |
C |
T |
9: 57,149,094 (GRCm39) |
P222L |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,148,045 (GRCm39) |
V326A |
probably benign |
Het |
| Unc80 |
A |
C |
1: 66,679,731 (GRCm39) |
I2101L |
probably benign |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,780 (GRCm39) |
L111S |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,281,011 (GRCm39) |
Q226* |
probably null |
Het |
| Xpo4 |
T |
C |
14: 57,828,446 (GRCm39) |
I805V |
probably benign |
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 |
|
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'- TTAACTGCCCCAAACTATAGGC -3'
(R):5'- CAGGTTACATGCATCGTGGC -3'
Sequencing Primer
(F):5'- GTCTTTACAGAAAAAGGCACCTG -3'
(R):5'- TACATGCATCGTGGCTAGAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation