Incidental Mutation 'R4557:Mcrs1'
| ID |
341924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcrs1
|
| Ensembl Gene |
ENSMUSG00000037570 |
| Gene Name |
microspherule protein 1 |
| Synonyms |
MSP58, P78, C78274, ICP22BP |
| MMRRC Submission |
041784-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4557 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99140698-99149838 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99141028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 459
(I459T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000041415]
[ENSMUST00000163506]
|
| AlphaFold |
Q99L90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041190
AA Change: I459T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
AA Change: I459T
| 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: ENSMUST00000041415
|
| SMART Domains |
Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
20 |
88 |
3.94e0 |
SMART |
|
PAC
|
94 |
136 |
9.92e-6 |
SMART |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
224 |
523 |
3.8e-34 |
PFAM |
|
Pfam:Ion_trans_2
|
453 |
517 |
1e-12 |
PFAM |
|
cNMP
|
593 |
708 |
2.04e-16 |
SMART |
|
low complexity region
|
781 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
886 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1054 |
1062 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163506
AA Change: I446T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
AA Change: I446T
| 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: ENSMUST00000229143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231020
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (49/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
| Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
| Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
| Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
| Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
| Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
| Slc44a2 |
T |
G |
9: 21,258,079 (GRCm39) |
L443R |
possibly damaging |
Het |
| Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
| Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
| Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
probably 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 |
|
|
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 |
|
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'- TGACTCACTGGAGACACAGGAG -3'
(R):5'- GCGCCTTAGCAACAACTCTG -3'
Sequencing Primer
(F):5'- TGGCTTCCCCATGGTGAC -3'
(R):5'- GCCTTAGCAACAACTCTGTGGTAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation