Incidental Mutation 'R7703:Mcph1'
ID |
594122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcph1
|
Ensembl Gene |
ENSMUSG00000039842 |
Gene Name |
microcephaly, primary autosomal recessive 1 |
Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
MMRRC Submission |
045764-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7703 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18721122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 650
(I650T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
|
AlphaFold |
Q7TT79 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039412
AA Change: I650T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037000 Gene: ENSMUSG00000039842 AA Change: I650T
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 benign
Transcript: ENSMUST00000124910
|
SMART Domains |
Protein: ENSMUSP00000131698 Gene: ENSMUSG00000039842
Domain | Start | End | E-Value | Type |
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
Aasdh |
T |
C |
5: 77,035,924 (GRCm39) |
D387G |
probably damaging |
Het |
Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,266,539 (GRCm39) |
E1064G |
probably damaging |
Het |
Gria4 |
T |
C |
9: 4,503,588 (GRCm39) |
I343V |
probably benign |
Het |
Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,321 (GRCm39) |
M164L |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,010,315 (GRCm39) |
D291G |
probably benign |
Het |
Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
probably benign |
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 |
|
R5125:Mcph1
|
UTSW |
8 |
18,657,342 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- CTACATAGCATGTGCCTGTGTG -3'
(R):5'- GGGTCAAAAGTATCTAGCGACCAC -3'
Sequencing Primer
(F):5'- CATGTGCCTGTGTGGACATCATC -3'
(R):5'- TCTAGCGACCACCTCATTTTAAAAC -3'
|
Posted On |
2019-11-12 |