Incidental Mutation 'R6167:Mak'
| ID |
490213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mak
|
| Ensembl Gene |
ENSMUSG00000021363 |
| Gene Name |
male germ cell-associated kinase |
| Synonyms |
A930010O05Rik |
| MMRRC Submission |
044313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.884)
|
| Stock # |
R6167 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
41178484-41233182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41206828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 101
(V101F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021792]
[ENSMUST00000070193]
[ENSMUST00000165087]
[ENSMUST00000224423]
[ENSMUST00000224740]
[ENSMUST00000225084]
|
| AlphaFold |
Q04859 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021792
AA Change: V101F
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021792
Gene: ENSMUSG00000021363
AA Change: V101F
| 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: ENSMUST00000070193
|
| SMART Domains |
Protein: ENSMUSP00000064750
Gene: ENSMUSG00000021363
| 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 benign
Transcript: ENSMUST00000165087
AA Change: V101F
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129615
Gene: ENSMUSG00000021363
AA Change: V101F
| 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: V101F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224740
AA Change: V101F
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225084
AA Change: V101F
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225789
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
| Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
| Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,928,077 (GRCm39) |
Y43F |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,433,287 (GRCm39) |
I453V |
probably benign |
Het |
| Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
| Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,374,271 (GRCm39) |
I538T |
probably damaging |
Het |
| Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
| Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
| Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,190 (GRCm39) |
M825K |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
| Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
| Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
| Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
| P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
| Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
| Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
| Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
| Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
| Tmpo |
C |
T |
10: 90,998,800 (GRCm39) |
R329H |
probably benign |
Het |
| Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
| Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
probably damaging |
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 |
|
R0855:Mak
|
UTSW |
13 |
41,223,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GGTGACCAGACTTCTAAAAGGTC -3'
(R):5'- ATAAGGCACTGGCTGTTGG -3'
Sequencing Primer
(F):5'- GACCAGACTTCTAAAAGGTCTGTTAC -3'
(R):5'- ATAAGGCACTGGCTGTTGGATTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation