Incidental Mutation 'R0855:Mak'
| ID |
82699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mak
|
| Ensembl Gene |
ENSMUSG00000021363 |
| Gene Name |
male germ cell-associated kinase |
| Synonyms |
A930010O05Rik |
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41178484-41233182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41223640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 25
(E25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021792]
[ENSMUST00000070193]
[ENSMUST00000165087]
[ENSMUST00000224423]
[ENSMUST00000224740]
[ENSMUST00000225084]
|
| AlphaFold |
Q04859 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021792
AA Change: E25G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: E25G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
284 |
5.24e-100 |
SMART |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070193
AA Change: E25G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
AA Change: E25G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
253 |
3.81e-70 |
SMART |
|
low complexity region
|
325 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165087
AA Change: E25G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: E25G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
284 |
5.24e-100 |
SMART |
|
low complexity region
|
356 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224423
AA Change: E25G
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224740
AA Change: E25G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225084
AA Change: E25G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225789
|
| Meta Mutation Damage Score |
0.2964 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit slight reductions in litter size and sperm motility in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Anks3 |
A |
T |
16: 4,773,811 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
| Other mutations in Mak |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Mak
|
APN |
13 |
41,209,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL00543:Mak
|
APN |
13 |
41,209,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00772:Mak
|
APN |
13 |
41,209,296 (GRCm39) |
splice site |
probably benign |
|
|
IGL01113:Mak
|
APN |
13 |
41,195,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Mak
|
APN |
13 |
41,206,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL01673:Mak
|
APN |
13 |
41,201,699 (GRCm39) |
splice site |
probably null |
|
|
IGL01872:Mak
|
APN |
13 |
41,210,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02051:Mak
|
APN |
13 |
41,195,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Mak
|
UTSW |
13 |
41,186,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Mak
|
UTSW |
13 |
41,202,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Mak
|
UTSW |
13 |
41,199,743 (GRCm39) |
missense |
probably benign |
|
|
R0557:Mak
|
UTSW |
13 |
41,193,135 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0616:Mak
|
UTSW |
13 |
41,195,661 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0786:Mak
|
UTSW |
13 |
41,199,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1430:Mak
|
UTSW |
13 |
41,223,760 (GRCm39) |
start gained |
probably benign |
|
|
R1603:Mak
|
UTSW |
13 |
41,195,582 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1759:Mak
|
UTSW |
13 |
41,210,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2042:Mak
|
UTSW |
13 |
41,202,912 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2148:Mak
|
UTSW |
13 |
41,195,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2155:Mak
|
UTSW |
13 |
41,186,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4124:Mak
|
UTSW |
13 |
41,210,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5040:Mak
|
UTSW |
13 |
41,183,574 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5141:Mak
|
UTSW |
13 |
41,186,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6167:Mak
|
UTSW |
13 |
41,206,828 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6937:Mak
|
UTSW |
13 |
41,201,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Mak
|
UTSW |
13 |
41,186,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7201:Mak
|
UTSW |
13 |
41,204,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7474:Mak
|
UTSW |
13 |
41,204,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Mak
|
UTSW |
13 |
41,183,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8057:Mak
|
UTSW |
13 |
41,202,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Mak
|
UTSW |
13 |
41,193,146 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8344:Mak
|
UTSW |
13 |
41,199,679 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9144:Mak
|
UTSW |
13 |
41,201,594 (GRCm39) |
nonsense |
probably null |
|
|
R9324:Mak
|
UTSW |
13 |
41,202,839 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9553:Mak
|
UTSW |
13 |
41,183,595 (GRCm39) |
missense |
probably benign |
|
|
R9755:Mak
|
UTSW |
13 |
41,199,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9784:Mak
|
UTSW |
13 |
41,202,836 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0024:Mak
|
UTSW |
13 |
41,204,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTCAAATGTATCGAGCACTCAGACT -3'
(R):5'- CCTGTCTCCAGTGTAGCAACAACAA -3'
Sequencing Primer
(F):5'- CGAGCACTCAGACTTACTTGG -3'
(R):5'- TGTAGCAACAACAACAAAAAAAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation