Incidental Mutation 'R2099:Mcrs1'
ID |
233266 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcrs1
|
Ensembl Gene |
ENSMUSG00000037570 |
Gene Name |
microspherule protein 1 |
Synonyms |
MSP58, P78, C78274, ICP22BP |
MMRRC Submission |
040103-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2099 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
99140698-99149838 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99147827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043901
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000163506]
[ENSMUST00000229926]
[ENSMUST00000229359]
[ENSMUST00000229671]
|
AlphaFold |
Q99L90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041190
AA Change: S27P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000043901 Gene: ENSMUSG00000037570 AA Change: S27P
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 benign
Transcript: ENSMUST00000163506
AA Change: S14P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000131407 Gene: ENSMUSG00000037570 AA Change: S14P
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 |
noncoding transcript
Transcript: ENSMUST00000175398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229143
|
Predicted Effect |
unknown
Transcript: ENSMUST00000229399
AA Change: S8P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229926
AA Change: S14P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229359
AA Change: S27P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230386
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231167
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230444
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231020
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,817,820 (GRCm39) |
R14Q |
unknown |
Het |
Aga |
C |
A |
8: 53,974,166 (GRCm39) |
Y286* |
probably null |
Het |
Anks1 |
T |
C |
17: 28,197,465 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,493,937 (GRCm39) |
F159I |
probably damaging |
Het |
Asxl1 |
A |
T |
2: 153,194,187 (GRCm39) |
M46L |
possibly damaging |
Het |
Atp23 |
G |
T |
10: 126,727,595 (GRCm39) |
|
probably null |
Het |
Carmil1 |
T |
A |
13: 24,357,650 (GRCm39) |
L66F |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,192,059 (GRCm39) |
V1027A |
probably benign |
Het |
Cx3cr1 |
G |
A |
9: 119,881,339 (GRCm39) |
A21V |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,616,403 (GRCm39) |
F221S |
probably damaging |
Het |
Dio2 |
T |
C |
12: 90,696,597 (GRCm39) |
*130W |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,063 (GRCm39) |
D1051G |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,768,429 (GRCm39) |
E958G |
possibly damaging |
Het |
Eif3a |
C |
A |
19: 60,752,551 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
T |
C |
4: 136,388,066 (GRCm39) |
D678G |
probably damaging |
Het |
Fpr3 |
G |
T |
17: 18,191,443 (GRCm39) |
R238L |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,342,488 (GRCm39) |
S1594G |
probably benign |
Het |
Gbp4 |
A |
C |
5: 105,268,947 (GRCm39) |
L402W |
probably damaging |
Het |
Gdpd5 |
T |
A |
7: 99,097,696 (GRCm39) |
L164Q |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,487,616 (GRCm39) |
|
probably null |
Het |
Kcp |
G |
T |
6: 29,496,164 (GRCm39) |
C723* |
probably null |
Het |
Klhl18 |
A |
G |
9: 110,284,486 (GRCm39) |
F2L |
probably damaging |
Het |
Lepr |
T |
A |
4: 101,630,185 (GRCm39) |
D633E |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,186,732 (GRCm39) |
I79V |
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,453,672 (GRCm39) |
D431G |
probably benign |
Het |
Mtor |
T |
A |
4: 148,634,649 (GRCm39) |
Y2423* |
probably null |
Het |
Ndc80 |
A |
T |
17: 71,811,773 (GRCm39) |
D484E |
probably benign |
Het |
Ndufb8 |
T |
A |
19: 44,543,749 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,931,589 (GRCm39) |
S41T |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,022,637 (GRCm39) |
C819R |
possibly damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,963 (GRCm39) |
V68A |
probably benign |
Het |
Or4f7 |
A |
G |
2: 111,644,177 (GRCm39) |
I298T |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,169,152 (GRCm39) |
N134I |
probably damaging |
Het |
Pheta1 |
C |
T |
5: 121,991,349 (GRCm39) |
P237L |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
Samd7 |
T |
C |
3: 30,810,709 (GRCm39) |
V242A |
probably benign |
Het |
Sde2 |
T |
C |
1: 180,693,713 (GRCm39) |
L401P |
probably damaging |
Het |
Slc20a1 |
A |
G |
2: 129,049,758 (GRCm39) |
D340G |
probably benign |
Het |
Slc2a5 |
T |
A |
4: 150,227,634 (GRCm39) |
Y484* |
probably null |
Het |
Spata31d1a |
A |
G |
13: 59,853,885 (GRCm39) |
L27P |
probably damaging |
Het |
Sqstm1 |
T |
C |
11: 50,093,811 (GRCm39) |
T269A |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,026,747 (GRCm39) |
V3525A |
probably benign |
Het |
Tctn1 |
G |
A |
5: 122,380,772 (GRCm39) |
P512L |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,082,411 (GRCm39) |
F722S |
probably damaging |
Het |
Treh |
A |
G |
9: 44,595,943 (GRCm39) |
Y376C |
probably damaging |
Het |
Trim47 |
T |
C |
11: 115,997,170 (GRCm39) |
N529S |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,719,049 (GRCm39) |
V184A |
possibly damaging |
Het |
Tyrp1 |
T |
A |
4: 80,753,616 (GRCm39) |
N102K |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,151,568 (GRCm39) |
S724T |
probably damaging |
Het |
Vmn2r2 |
C |
A |
3: 64,024,474 (GRCm39) |
K702N |
probably damaging |
Het |
Zfp267 |
C |
T |
3: 36,218,361 (GRCm39) |
T128I |
possibly damaging |
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 |
|
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 |
R8012:Mcrs1
|
UTSW |
15 |
99,147,766 (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'- TTCAACAGAGATGGAACCCC -3'
(R):5'- GAATGCCTGCCTCAAAGACC -3'
Sequencing Primer
(F):5'- ACAAGGCTTTGCTTGGACC -3'
(R):5'- TCAAAGACCAAGCCTCAGGGAG -3'
|
Posted On |
2014-09-18 |