Incidental Mutation 'R7640:Mcph1'
| ID |
590189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcph1
|
| Ensembl Gene |
ENSMUSG00000039842 |
| Gene Name |
microcephaly, primary autosomal recessive 1 |
| Synonyms |
BRIT1, D030046N04Rik, 5430437K10Rik |
| MMRRC Submission |
045698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
18595131-18803189 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18632326 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 493
(V493E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039412]
[ENSMUST00000124910]
[ENSMUST00000133417]
[ENSMUST00000141244]
[ENSMUST00000146819]
|
| AlphaFold |
Q7TT79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039412
AA Change: V493E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037000
Gene: ENSMUSG00000039842
AA Change: V493E
| 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 |
|
| 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 |
probably benign
Transcript: ENSMUST00000141244
|
| SMART Domains |
Protein: ENSMUSP00000119267
Gene: ENSMUSG00000039842
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BRCT
|
2 |
38 |
2e-9 |
BLAST |
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146819
AA Change: V493E
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131616
Gene: ENSMUSG00000039842
AA Change: V493E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,454,594 (GRCm38) |
N20I |
probably damaging |
Het |
| 1700020D05Rik |
T |
A |
19: 5,503,007 (GRCm38) |
S249C |
probably damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,957,149 (GRCm38) |
S74P |
probably benign |
Het |
| 4932415D10Rik |
T |
A |
10: 82,294,656 (GRCm38) |
N840I |
probably damaging |
Het |
| Abcb6 |
A |
T |
1: 75,174,845 (GRCm38) |
|
probably null |
Het |
| Adamts14 |
C |
A |
10: 61,246,057 (GRCm38) |
A234S |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,619,635 (GRCm38) |
S167P |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,038,175 (GRCm38) |
I272V |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,453,572 (GRCm38) |
F219S |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,907,293 (GRCm38) |
|
probably null |
Het |
| Cep72 |
G |
A |
13: 74,058,488 (GRCm38) |
Q72* |
probably null |
Het |
| Clock |
G |
T |
5: 76,248,378 (GRCm38) |
L175M |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,661,534 (GRCm38) |
Y26F |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,785,744 (GRCm38) |
M198K |
possibly damaging |
Het |
| Cuta |
C |
T |
17: 26,938,422 (GRCm38) |
V135I |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,534,239 (GRCm38) |
M241K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 99,101,114 (GRCm38) |
N60S |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,388,904 (GRCm38) |
M432V |
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,902,707 (GRCm38) |
G368C |
probably damaging |
Het |
| En2 |
A |
T |
5: 28,170,166 (GRCm38) |
K236* |
probably null |
Het |
| Fas |
A |
G |
19: 34,307,164 (GRCm38) |
T24A |
possibly damaging |
Het |
| Gm13078 |
T |
C |
4: 143,726,706 (GRCm38) |
V128A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,306,239 (GRCm38) |
V930A |
probably benign |
Het |
| Gprin2 |
G |
T |
14: 34,195,753 (GRCm38) |
A20D |
probably benign |
Het |
| Ighv14-4 |
A |
T |
12: 114,176,444 (GRCm38) |
C115* |
probably null |
Het |
| Impdh2 |
T |
C |
9: 108,565,181 (GRCm38) |
Y459H |
possibly damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,387,260 (GRCm38) |
V124L |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,721,357 (GRCm38) |
Y122* |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,136,804 (GRCm38) |
I708N |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,374,705 (GRCm38) |
M1V |
probably null |
Het |
| Lrit2 |
T |
C |
14: 37,072,124 (GRCm38) |
W382R |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,411,968 (GRCm38) |
V173E |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,487,087 (GRCm38) |
N118D |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,668,566 (GRCm38) |
S301G |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,392,933 (GRCm38) |
M94I |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,332,295 (GRCm38) |
S455T |
possibly damaging |
Het |
| Mrgprb5 |
T |
G |
7: 48,168,259 (GRCm38) |
I243L |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,760,105 (GRCm38) |
P360T |
|
Het |
| Nat10 |
G |
A |
2: 103,743,090 (GRCm38) |
A354V |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,490,304 (GRCm38) |
Q7R |
possibly damaging |
Het |
| Oas1b |
T |
C |
5: 120,821,414 (GRCm38) |
L288P |
probably damaging |
Het |
| Olfr1076 |
A |
G |
2: 86,508,943 (GRCm38) |
I161M |
possibly damaging |
Het |
| Olfr1131 |
A |
G |
2: 87,629,092 (GRCm38) |
I94V |
probably benign |
Het |
| Olfr1196 |
T |
A |
2: 88,700,886 (GRCm38) |
I148L |
probably benign |
Het |
| Olfr633 |
A |
T |
7: 103,946,943 (GRCm38) |
I126F |
probably damaging |
Het |
| Otoa |
A |
G |
7: 121,145,626 (GRCm38) |
E869G |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,144,525 (GRCm38) |
L186P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,610,776 (GRCm38) |
E1271G |
possibly damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,276,163 (GRCm38) |
A8T |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,377,849 (GRCm38) |
|
probably null |
Het |
| Rlf |
T |
A |
4: 121,146,801 (GRCm38) |
M1771L |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,764,410 (GRCm38) |
P1372L |
possibly damaging |
Het |
| Rragd |
A |
T |
4: 32,983,527 (GRCm38) |
D22V |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,683,575 (GRCm38) |
S644R |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,579,092 (GRCm38) |
R417C |
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,257,869 (GRCm38) |
N717K |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,278,928 (GRCm38) |
D367N |
possibly damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,361,261 (GRCm38) |
V272M |
probably damaging |
Het |
| Tmem132c |
A |
G |
5: 127,563,006 (GRCm38) |
D747G |
probably damaging |
Het |
| Tmem56 |
A |
G |
3: 121,235,041 (GRCm38) |
|
probably null |
Het |
| Trim2 |
C |
A |
3: 84,190,906 (GRCm38) |
V372F |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,861,384 (GRCm38) |
T292A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,415,323 (GRCm38) |
T919A |
probably benign |
Het |
| Wdr34 |
T |
G |
2: 30,031,768 (GRCm38) |
D527A |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,412,480 (GRCm38) |
I3385T |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 87,781,277 (GRCm38) |
K813R |
probably damaging |
Het |
| Zfp850 |
T |
C |
7: 27,989,209 (GRCm38) |
T525A |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 82,060,275 (GRCm38) |
I280T |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,896,056 (GRCm38) |
T697A |
possibly damaging |
Het |
|
| Other mutations in Mcph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Mcph1
|
APN |
8 |
18,632,620 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00816:Mcph1
|
APN |
8 |
18,632,397 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL01432:Mcph1
|
APN |
8 |
18,625,639 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01674:Mcph1
|
APN |
8 |
18,631,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01746:Mcph1
|
APN |
8 |
18,671,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01788:Mcph1
|
APN |
8 |
18,632,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01788:Mcph1
|
APN |
8 |
18,632,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02185:Mcph1
|
APN |
8 |
18,668,990 (GRCm38) |
splice site |
probably benign |
|
|
IGL02677:Mcph1
|
APN |
8 |
18,625,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03376:Mcph1
|
APN |
8 |
18,596,973 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4514001:Mcph1
|
UTSW |
8 |
18,631,890 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0116:Mcph1
|
UTSW |
8 |
18,788,248 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0189:Mcph1
|
UTSW |
8 |
18,788,471 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1510:Mcph1
|
UTSW |
8 |
18,632,687 (GRCm38) |
splice site |
probably null |
|
|
R1547:Mcph1
|
UTSW |
8 |
18,622,686 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1574:Mcph1
|
UTSW |
8 |
18,801,412 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1574:Mcph1
|
UTSW |
8 |
18,801,412 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1733:Mcph1
|
UTSW |
8 |
18,631,963 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1742:Mcph1
|
UTSW |
8 |
18,607,363 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1975:Mcph1
|
UTSW |
8 |
18,689,065 (GRCm38) |
splice site |
probably benign |
|
|
R3836:Mcph1
|
UTSW |
8 |
18,622,659 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4405:Mcph1
|
UTSW |
8 |
18,632,541 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4493:Mcph1
|
UTSW |
8 |
18,631,736 (GRCm38) |
nonsense |
probably null |
|
|
R4824:Mcph1
|
UTSW |
8 |
18,632,687 (GRCm38) |
splice site |
probably null |
|
|
R4873:Mcph1
|
UTSW |
8 |
18,625,558 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4875:Mcph1
|
UTSW |
8 |
18,625,558 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5125:Mcph1
|
UTSW |
8 |
18,607,326 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5178:Mcph1
|
UTSW |
8 |
18,607,326 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5217:Mcph1
|
UTSW |
8 |
18,788,473 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5233:Mcph1
|
UTSW |
8 |
18,671,238 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5299:Mcph1
|
UTSW |
8 |
18,652,580 (GRCm38) |
intron |
probably benign |
|
|
R5335:Mcph1
|
UTSW |
8 |
18,689,061 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5579:Mcph1
|
UTSW |
8 |
18,632,293 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5621:Mcph1
|
UTSW |
8 |
18,632,170 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5655:Mcph1
|
UTSW |
8 |
18,788,310 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5721:Mcph1
|
UTSW |
8 |
18,671,207 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6076:Mcph1
|
UTSW |
8 |
18,631,999 (GRCm38) |
missense |
probably benign |
0.40 |
|
R6592:Mcph1
|
UTSW |
8 |
18,668,967 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7269:Mcph1
|
UTSW |
8 |
18,607,272 (GRCm38) |
splice site |
probably null |
|
|
R7446:Mcph1
|
UTSW |
8 |
18,671,093 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7455:Mcph1
|
UTSW |
8 |
18,631,759 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7542:Mcph1
|
UTSW |
8 |
18,631,689 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7703:Mcph1
|
UTSW |
8 |
18,671,106 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9045:Mcph1
|
UTSW |
8 |
18,632,427 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9287:Mcph1
|
UTSW |
8 |
18,607,277 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
RF002:Mcph1
|
UTSW |
8 |
18,652,529 (GRCm38) |
small insertion |
probably benign |
|
|
RF035:Mcph1
|
UTSW |
8 |
18,652,525 (GRCm38) |
small insertion |
probably benign |
|
|
RF059:Mcph1
|
UTSW |
8 |
18,652,525 (GRCm38) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGGTCTCTCAAAGTGG -3'
(R):5'- CATCTTCAGGAGAGGCTGATGC -3'
Sequencing Primer
(F):5'- CTCTCAAAGTGGGAGCGAAG -3'
(R):5'- TGGGGGAGCCTTTTCCATCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation