Incidental Mutation 'R5125:Mcph1'
ID |
393501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcph1
|
Ensembl Gene |
ENSMUSG00000039842 |
Gene Name |
microcephaly, primary autosomal recessive 1 |
Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
MMRRC Submission |
042713-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18657342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 60
(D60E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000146819]
|
AlphaFold |
Q7TT79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039412
AA Change: D60E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842 AA Change: D60E
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
coiled coil region
|
128 |
155 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
224 |
597 |
1.2e-143 |
PFAM |
BRCT
|
624 |
707 |
2.23e-2 |
SMART |
BRCT
|
740 |
810 |
1.55e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124910
AA Change: D60E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131698 Gene: ENSMUSG00000039842 AA Change: D60E
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146819
AA Change: D60E
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131616 Gene: ENSMUSG00000039842 AA Change: D60E
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
coiled coil region
|
128 |
155 |
N/A |
INTRINSIC |
Pfam:Microcephalin
|
224 |
598 |
1.4e-168 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153133
|
Meta Mutation Damage Score |
0.2379 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
96% (49/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous null mice are born at a reduced rate and display male and female infertility and arrest of male meiosis. Mice homozygous for another knock-out allele exhibit microcephaly, infertility, decreased brain size, impaired neuroprogenitor proliferation and apoptosis, and mitosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly damaging |
Het |
|
Other mutations in Mcph1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Mcph1
|
APN |
8 |
18,682,636 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00816:Mcph1
|
APN |
8 |
18,682,413 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01432:Mcph1
|
APN |
8 |
18,675,655 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01674:Mcph1
|
APN |
8 |
18,681,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01746:Mcph1
|
APN |
8 |
18,721,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01788:Mcph1
|
APN |
8 |
18,682,420 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01788:Mcph1
|
APN |
8 |
18,682,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02185:Mcph1
|
APN |
8 |
18,719,006 (GRCm39) |
splice site |
probably benign |
|
IGL02677:Mcph1
|
APN |
8 |
18,675,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03376:Mcph1
|
APN |
8 |
18,646,989 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4514001:Mcph1
|
UTSW |
8 |
18,681,906 (GRCm39) |
missense |
probably damaging |
0.99 |
R0116:Mcph1
|
UTSW |
8 |
18,838,264 (GRCm39) |
missense |
probably benign |
0.06 |
R0189:Mcph1
|
UTSW |
8 |
18,838,487 (GRCm39) |
missense |
probably damaging |
0.96 |
R1510:Mcph1
|
UTSW |
8 |
18,682,703 (GRCm39) |
splice site |
probably null |
|
R1547:Mcph1
|
UTSW |
8 |
18,672,702 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1574:Mcph1
|
UTSW |
8 |
18,851,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R1574:Mcph1
|
UTSW |
8 |
18,851,428 (GRCm39) |
missense |
probably damaging |
0.99 |
R1733:Mcph1
|
UTSW |
8 |
18,681,979 (GRCm39) |
missense |
probably benign |
0.18 |
R1742:Mcph1
|
UTSW |
8 |
18,657,379 (GRCm39) |
missense |
probably benign |
0.03 |
R1975:Mcph1
|
UTSW |
8 |
18,739,081 (GRCm39) |
splice site |
probably benign |
|
R3836:Mcph1
|
UTSW |
8 |
18,672,675 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4405:Mcph1
|
UTSW |
8 |
18,682,557 (GRCm39) |
missense |
probably benign |
0.00 |
R4493:Mcph1
|
UTSW |
8 |
18,681,752 (GRCm39) |
nonsense |
probably null |
|
R4824:Mcph1
|
UTSW |
8 |
18,682,703 (GRCm39) |
splice site |
probably null |
|
R4873:Mcph1
|
UTSW |
8 |
18,675,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4875:Mcph1
|
UTSW |
8 |
18,675,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5178:Mcph1
|
UTSW |
8 |
18,657,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R5217:Mcph1
|
UTSW |
8 |
18,838,489 (GRCm39) |
missense |
probably damaging |
0.99 |
R5233:Mcph1
|
UTSW |
8 |
18,721,254 (GRCm39) |
missense |
probably damaging |
0.96 |
R5299:Mcph1
|
UTSW |
8 |
18,702,596 (GRCm39) |
intron |
probably benign |
|
R5335:Mcph1
|
UTSW |
8 |
18,739,077 (GRCm39) |
critical splice donor site |
probably null |
|
R5579:Mcph1
|
UTSW |
8 |
18,682,309 (GRCm39) |
missense |
probably benign |
0.18 |
R5621:Mcph1
|
UTSW |
8 |
18,682,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5655:Mcph1
|
UTSW |
8 |
18,838,326 (GRCm39) |
missense |
probably benign |
0.02 |
R5721:Mcph1
|
UTSW |
8 |
18,721,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R6076:Mcph1
|
UTSW |
8 |
18,682,015 (GRCm39) |
missense |
probably benign |
0.40 |
R6592:Mcph1
|
UTSW |
8 |
18,718,983 (GRCm39) |
missense |
probably damaging |
0.97 |
R7269:Mcph1
|
UTSW |
8 |
18,657,288 (GRCm39) |
splice site |
probably null |
|
R7446:Mcph1
|
UTSW |
8 |
18,721,109 (GRCm39) |
missense |
probably benign |
0.00 |
R7455:Mcph1
|
UTSW |
8 |
18,681,775 (GRCm39) |
missense |
probably benign |
0.26 |
R7542:Mcph1
|
UTSW |
8 |
18,681,705 (GRCm39) |
missense |
probably benign |
0.03 |
R7640:Mcph1
|
UTSW |
8 |
18,682,342 (GRCm39) |
missense |
probably benign |
0.00 |
R7703:Mcph1
|
UTSW |
8 |
18,721,122 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9045:Mcph1
|
UTSW |
8 |
18,682,443 (GRCm39) |
missense |
probably benign |
0.00 |
R9287:Mcph1
|
UTSW |
8 |
18,657,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF002:Mcph1
|
UTSW |
8 |
18,702,545 (GRCm39) |
small insertion |
probably benign |
|
RF035:Mcph1
|
UTSW |
8 |
18,702,541 (GRCm39) |
small insertion |
probably benign |
|
RF059:Mcph1
|
UTSW |
8 |
18,702,541 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCAGCAGCTCTACTTGG -3'
(R):5'- TTCCTGCACGGCAAGTCTAC -3'
Sequencing Primer
(F):5'- TGAAACAGGCTCTCACTGTG -3'
(R):5'- CACGGCAAGTCTACTGAATGTTG -3'
|
Posted On |
2016-06-15 |