Incidental Mutation 'R1547:Mcph1'
| ID |
172266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcph1
|
| Ensembl Gene |
ENSMUSG00000039842 |
| Gene Name |
microcephaly, primary autosomal recessive 1 |
| Synonyms |
5430437K10Rik, D030046N04Rik, BRIT1 |
| MMRRC Submission |
039586-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
18645147-18853205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18672702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 111
(R111G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000146819]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
AA Change: R111G
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: R111G
| 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 |
possibly damaging
Transcript: ENSMUST00000124910
AA Change: R111G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131698
Gene: ENSMUSG00000039842
AA Change: R111G
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
13 |
89 |
2.64e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133417
|
| SMART Domains |
Protein: ENSMUSP00000121636
Gene: ENSMUSG00000039842
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
14 |
41 |
N/A |
INTRINSIC |
|
Pfam:Microcephalin
|
136 |
256 |
2.4e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146819
AA Change: R111G
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: R111G
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
C |
12: 21,403,958 (GRCm39) |
V96G |
probably damaging |
Het |
| Adam5 |
G |
T |
8: 25,300,729 (GRCm39) |
Q267K |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,581,383 (GRCm39) |
T833A |
probably benign |
Het |
| Ago4 |
C |
T |
4: 126,405,206 (GRCm39) |
E456K |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,476 (GRCm39) |
Q1861R |
probably benign |
Het |
| Apob |
A |
T |
12: 8,053,368 (GRCm39) |
D1270V |
probably benign |
Het |
| Arb2a |
T |
C |
13: 77,973,509 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
T |
A |
3: 87,602,709 (GRCm39) |
I196N |
possibly damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,953 (GRCm39) |
D251E |
probably benign |
Het |
| Capzb |
G |
A |
4: 138,989,409 (GRCm39) |
|
probably null |
Het |
| Ccdc183 |
T |
A |
2: 25,499,362 (GRCm39) |
T466S |
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,926,267 (GRCm39) |
T151A |
possibly damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,902,209 (GRCm39) |
I489F |
probably damaging |
Het |
| Cetn4 |
T |
C |
3: 37,363,600 (GRCm39) |
K52R |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,725,884 (GRCm39) |
E1440K |
probably damaging |
Het |
| Edem2 |
A |
G |
2: 155,564,436 (GRCm39) |
F94L |
probably damaging |
Het |
| Elp1 |
C |
A |
4: 56,792,090 (GRCm39) |
R226L |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,798,810 (GRCm39) |
V51M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,957,065 (GRCm39) |
D315G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,143,081 (GRCm39) |
P4256L |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,677,398 (GRCm39) |
E594G |
probably benign |
Het |
| Kifap3 |
A |
G |
1: 163,621,655 (GRCm39) |
D101G |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,784,832 (GRCm39) |
D102G |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,359,824 (GRCm39) |
H388R |
probably benign |
Het |
| Lmna |
T |
C |
3: 88,389,658 (GRCm39) |
S656G |
probably benign |
Het |
| Map3k12 |
T |
A |
15: 102,412,287 (GRCm39) |
I285F |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,991,796 (GRCm39) |
I345V |
probably benign |
Het |
| Mfsd6l |
T |
A |
11: 68,447,434 (GRCm39) |
V95D |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,093,006 (GRCm39) |
M118K |
possibly damaging |
Het |
| Npy5r |
T |
C |
8: 67,133,686 (GRCm39) |
E369G |
possibly damaging |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,889 (GRCm39) |
F52L |
probably damaging |
Het |
| Or10j3 |
T |
A |
1: 173,031,239 (GRCm39) |
Y105* |
probably null |
Het |
| Or2t49 |
A |
G |
11: 58,392,651 (GRCm39) |
S244P |
probably damaging |
Het |
| Or8b12b |
A |
C |
9: 37,683,960 (GRCm39) |
T2P |
probably benign |
Het |
| Pde7b |
C |
A |
10: 20,310,340 (GRCm39) |
L207F |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,020,689 (GRCm39) |
V751A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,381 (GRCm39) |
Y1923C |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,522 (GRCm39) |
Y152C |
probably damaging |
Het |
| Rab40c |
A |
G |
17: 26,102,724 (GRCm39) |
S223P |
probably damaging |
Het |
| Recql4 |
A |
C |
15: 76,590,511 (GRCm39) |
C658G |
probably damaging |
Het |
| Sgca |
T |
C |
11: 94,860,259 (GRCm39) |
T46A |
probably damaging |
Het |
| Slc39a4 |
G |
T |
15: 76,498,347 (GRCm39) |
C363* |
probably null |
Het |
| Snap25 |
A |
T |
2: 136,619,389 (GRCm39) |
I181F |
possibly damaging |
Het |
| Snx32 |
T |
A |
19: 5,547,339 (GRCm39) |
Q256L |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,267,331 (GRCm39) |
V284A |
probably damaging |
Het |
| Sox6 |
G |
A |
7: 115,300,957 (GRCm39) |
T170M |
possibly damaging |
Het |
| Spag16 |
G |
T |
1: 69,912,402 (GRCm39) |
V246F |
possibly damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,504,977 (GRCm39) |
V141A |
possibly damaging |
Het |
| Sult2a7 |
T |
A |
7: 14,211,047 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
A |
T |
17: 24,906,698 (GRCm39) |
V39E |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,508,418 (GRCm39) |
T917A |
probably damaging |
Het |
| Tas1r1 |
A |
G |
4: 152,112,876 (GRCm39) |
S726P |
probably damaging |
Het |
| Zeb1 |
C |
T |
18: 5,767,450 (GRCm39) |
R654C |
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 |
|
|
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 |
|
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'- ACCTGCTGTCTGATAGATCCCCAG -3'
(R):5'- GCAGTTCCTGTGTGAGAACCAAGTG -3'
Sequencing Primer
(F):5'- GATAGATCCCCAGTTCTTAGGTTGC -3'
(R):5'- ctaatgccctctactgtcctc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation