Incidental Mutation 'R8012:Mcrs1'
ID |
616963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcrs1
|
Ensembl Gene |
ENSMUSG00000037570 |
Gene Name |
microspherule protein 1 |
Synonyms |
MSP58, P78, C78274, ICP22BP |
MMRRC Submission |
046052-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8012 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99140698-99149838 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 99147766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 47
(S47I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000163506]
[ENSMUST00000229359]
[ENSMUST00000229671]
[ENSMUST00000229926]
|
AlphaFold |
Q99L90 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041190
AA Change: S47I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043901 Gene: ENSMUSG00000037570 AA Change: S47I
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
57 |
N/A |
INTRINSIC |
low complexity region
|
81 |
113 |
N/A |
INTRINSIC |
Pfam:MCRS_N
|
134 |
331 |
5.7e-98 |
PFAM |
FHA
|
362 |
419 |
2.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163506
AA Change: S34I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131407 Gene: ENSMUSG00000037570 AA Change: S34I
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
low complexity region
|
68 |
100 |
N/A |
INTRINSIC |
Pfam:MCRS_N
|
121 |
318 |
2.4e-97 |
PFAM |
FHA
|
349 |
406 |
2.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229359
AA Change: S47I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229671
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229926
AA Change: S34I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.2282 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (44/44) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
T |
A |
4: 144,429,972 (GRCm39) |
D339V |
possibly damaging |
Het |
Adam19 |
A |
G |
11: 45,955,873 (GRCm39) |
E73G |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,123,962 (GRCm39) |
N65K |
probably benign |
Het |
Amigo1 |
T |
A |
3: 108,095,958 (GRCm39) |
S486T |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,420,174 (GRCm39) |
L591S |
unknown |
Het |
Asic1 |
T |
C |
15: 99,594,532 (GRCm39) |
V326A |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,385,202 (GRCm39) |
N282S |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,985,066 (GRCm39) |
D51G |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,534 (GRCm39) |
S1320P |
possibly damaging |
Het |
Cabp5 |
A |
T |
7: 13,141,706 (GRCm39) |
|
probably null |
Het |
Cdca2 |
A |
G |
14: 67,914,821 (GRCm39) |
C813R |
probably benign |
Het |
Chpf2 |
A |
T |
5: 24,795,343 (GRCm39) |
R289W |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,250,136 (GRCm39) |
N367I |
possibly damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,369 (GRCm39) |
F428S |
probably damaging |
Het |
Dgkb |
A |
T |
12: 38,189,485 (GRCm39) |
N296I |
probably benign |
Het |
Dhcr24 |
T |
C |
4: 106,443,853 (GRCm39) |
F481S |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,282,525 (GRCm39) |
Q2886L |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,757,807 (GRCm39) |
V99E |
probably benign |
Het |
F830045P16Rik |
T |
C |
2: 129,316,352 (GRCm39) |
D119G |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,702,428 (GRCm39) |
L1773Q |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,725,241 (GRCm39) |
V1126E |
probably damaging |
Het |
Fnta |
T |
C |
8: 26,489,535 (GRCm39) |
I359V |
probably benign |
Het |
Hoxc10 |
T |
C |
15: 102,875,902 (GRCm39) |
S204P |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,358 (GRCm39) |
E1562G |
probably benign |
Het |
Lrguk |
A |
G |
6: 34,033,038 (GRCm39) |
N235D |
probably benign |
Het |
Ly6g6f |
T |
C |
17: 35,300,060 (GRCm39) |
R263G |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,258,572 (GRCm39) |
I42F |
probably damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,227,277 (GRCm39) |
C1235S |
possibly damaging |
Het |
Obsl1 |
T |
A |
1: 75,469,317 (GRCm39) |
H1208L |
probably benign |
Het |
Pcmt1 |
T |
C |
10: 7,516,527 (GRCm39) |
D175G |
probably benign |
Het |
Pcolce |
T |
C |
5: 137,603,457 (GRCm39) |
K459E |
probably benign |
Het |
Pudp |
T |
G |
18: 50,701,310 (GRCm39) |
H141P |
possibly damaging |
Het |
Rock2 |
T |
C |
12: 16,992,743 (GRCm39) |
Y171H |
probably damaging |
Het |
Rwdd1 |
A |
C |
10: 33,885,198 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,565 (GRCm39) |
V1085A |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,343,678 (GRCm39) |
L88P |
possibly damaging |
Het |
Tmem131 |
T |
C |
1: 36,847,045 (GRCm39) |
D1351G |
probably damaging |
Het |
Tph1 |
A |
T |
7: 46,306,303 (GRCm39) |
D219E |
probably damaging |
Het |
Wdr86 |
A |
G |
5: 24,935,177 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mcrs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01322:Mcrs1
|
APN |
15 |
99,141,266 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01338:Mcrs1
|
APN |
15 |
99,147,382 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01975:Mcrs1
|
APN |
15 |
99,141,559 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4651001:Mcrs1
|
UTSW |
15 |
99,144,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Mcrs1
|
UTSW |
15 |
99,142,608 (GRCm39) |
unclassified |
probably benign |
|
R0520:Mcrs1
|
UTSW |
15 |
99,146,336 (GRCm39) |
splice site |
probably null |
|
R0744:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
R0833:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
R0836:Mcrs1
|
UTSW |
15 |
99,141,330 (GRCm39) |
unclassified |
probably benign |
|
R2099:Mcrs1
|
UTSW |
15 |
99,147,827 (GRCm39) |
missense |
probably benign |
0.00 |
R2133:Mcrs1
|
UTSW |
15 |
99,141,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Mcrs1
|
UTSW |
15 |
99,141,028 (GRCm39) |
missense |
probably benign |
0.01 |
R5425:Mcrs1
|
UTSW |
15 |
99,141,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R5517:Mcrs1
|
UTSW |
15 |
99,144,876 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7129:Mcrs1
|
UTSW |
15 |
99,146,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R8015:Mcrs1
|
UTSW |
15 |
99,146,735 (GRCm39) |
nonsense |
probably null |
|
R8025:Mcrs1
|
UTSW |
15 |
99,144,814 (GRCm39) |
nonsense |
probably null |
|
R8171:Mcrs1
|
UTSW |
15 |
99,146,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R8191:Mcrs1
|
UTSW |
15 |
99,141,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R8420:Mcrs1
|
UTSW |
15 |
99,141,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Mcrs1
|
UTSW |
15 |
99,146,349 (GRCm39) |
nonsense |
probably null |
|
R8777:Mcrs1
|
UTSW |
15 |
99,141,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777-TAIL:Mcrs1
|
UTSW |
15 |
99,141,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Mcrs1
|
UTSW |
15 |
99,146,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGAACCCCTCACTCTC -3'
(R):5'- GGAATGCCTGCCTCAAAGAC -3'
Sequencing Primer
(F):5'- GTGCCATCCGGACACAC -3'
(R):5'- TCAAAGACCAAGCCTCAGGGAG -3'
|
Posted On |
2020-01-23 |