Incidental Mutation 'R5711:Ak6'
| ID |
452233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak6
|
| Ensembl Gene |
ENSMUSG00000078941 |
| Gene Name |
adenylate kinase 6 |
| Synonyms |
2810046E22Rik, 4921516M08Rik |
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100787851-100802923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100790722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 18
(T18S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022135]
[ENSMUST00000022136]
[ENSMUST00000084721]
[ENSMUST00000167256]
[ENSMUST00000177848]
[ENSMUST00000185767]
[ENSMUST00000190729]
[ENSMUST00000190594]
[ENSMUST00000226050]
[ENSMUST00000190165]
[ENSMUST00000187792]
|
| AlphaFold |
Q8VCP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022135
AA Change: T18S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941
AA Change: T18S
| 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 |
noncoding transcript
Transcript: ENSMUST00000190210
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190729
AA Change: T18S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
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 |
|
|
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'- GCAGTCCTATCCCTGGAGATTAG -3'
(R):5'- AGGATCCTTCTGCTTTCTGGAC -3'
Sequencing Primer
(F):5'- GTCCTGACACTGTGTAGCCTAG -3'
(R):5'- TCTGGACCTCTAGCAACACTTAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation