Incidental Mutation 'IGL01338:Mcrs1'
ID |
74723 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mcrs1
|
Ensembl Gene |
ENSMUSG00000037570 |
Gene Name |
microspherule protein 1 |
Synonyms |
MSP58, P78, C78274, ICP22BP |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01338
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99140698-99149838 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99147382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 39
(I39N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041190]
[ENSMUST00000163506]
[ENSMUST00000229359]
[ENSMUST00000229926]
[ENSMUST00000229671]
|
AlphaFold |
Q99L90 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041190
AA Change: I52N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000043901 Gene: ENSMUSG00000037570 AA Change: I52N
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: I39N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131407 Gene: ENSMUSG00000037570 AA Change: I39N
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: ENSMUST00000187706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187967
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229143
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229359
AA Change: I52N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000229399
AA Change: I33N
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229926
AA Change: I39N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231020
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230444
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231167
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229671
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
G |
1: 63,591,014 (GRCm39) |
T494A |
possibly damaging |
Het |
Adamts16 |
C |
T |
13: 70,984,234 (GRCm39) |
C143Y |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,232,581 (GRCm39) |
I195V |
probably damaging |
Het |
Casp7 |
T |
C |
19: 56,392,896 (GRCm39) |
S17P |
probably benign |
Het |
Cfap298 |
T |
C |
16: 90,722,936 (GRCm39) |
N266S |
possibly damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpvl |
T |
A |
6: 53,951,640 (GRCm39) |
S48C |
possibly damaging |
Het |
Cyp2b19 |
G |
T |
7: 26,458,842 (GRCm39) |
M138I |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,518,611 (GRCm39) |
Y510C |
possibly damaging |
Het |
Derl2 |
A |
G |
11: 70,901,181 (GRCm39) |
F229S |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,949,979 (GRCm39) |
E452G |
probably damaging |
Het |
Dsc2 |
T |
C |
18: 20,180,214 (GRCm39) |
K180E |
probably benign |
Het |
Dus1l |
G |
A |
11: 120,683,918 (GRCm39) |
R177C |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,813,020 (GRCm39) |
I167V |
probably damaging |
Het |
Fam219b |
A |
T |
9: 57,445,305 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,665,369 (GRCm39) |
E916G |
probably damaging |
Het |
Gm2058 |
C |
T |
7: 39,238,580 (GRCm39) |
|
noncoding transcript |
Het |
Gpd1 |
T |
A |
15: 99,616,056 (GRCm39) |
V22E |
probably damaging |
Het |
Hsf2 |
T |
C |
10: 57,377,475 (GRCm39) |
F124L |
probably damaging |
Het |
I0C0044D17Rik |
A |
G |
4: 98,708,336 (GRCm39) |
|
probably benign |
Het |
Igfbp3 |
A |
T |
11: 7,158,478 (GRCm39) |
F262I |
possibly damaging |
Het |
Klhl18 |
A |
G |
9: 110,284,501 (GRCm39) |
Y62H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,064,268 (GRCm39) |
E1238K |
probably benign |
Het |
Man1b1 |
A |
G |
2: 25,228,239 (GRCm39) |
K170E |
probably benign |
Het |
Mug2 |
T |
C |
6: 122,026,587 (GRCm39) |
|
probably benign |
Het |
Neu3 |
C |
A |
7: 99,462,629 (GRCm39) |
G365W |
probably damaging |
Het |
Nipal3 |
A |
C |
4: 135,199,194 (GRCm39) |
|
probably null |
Het |
Nrxn3 |
A |
G |
12: 89,221,804 (GRCm39) |
I528V |
possibly damaging |
Het |
Or10al6 |
A |
T |
17: 38,082,730 (GRCm39) |
H71L |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,103,608 (GRCm39) |
K204R |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,325,931 (GRCm39) |
S318P |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,590 (GRCm39) |
N242Y |
probably damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,786,259 (GRCm39) |
K649* |
probably null |
Het |
Ppm1n |
A |
T |
7: 19,013,179 (GRCm39) |
D257E |
probably benign |
Het |
Pxdn |
A |
G |
12: 30,052,796 (GRCm39) |
E811G |
probably damaging |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
Rtkn2 |
G |
T |
10: 67,861,349 (GRCm39) |
C258F |
possibly damaging |
Het |
Scn11a |
G |
A |
9: 119,613,227 (GRCm39) |
|
probably benign |
Het |
Snx8 |
G |
A |
5: 140,343,851 (GRCm39) |
R96C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,107,000 (GRCm39) |
T5649S |
possibly damaging |
Het |
Tm2d3 |
T |
A |
7: 65,344,970 (GRCm39) |
C82* |
probably null |
Het |
Tnpo2 |
T |
C |
8: 85,767,155 (GRCm39) |
L55P |
probably damaging |
Het |
Tsc22d2 |
T |
C |
3: 58,324,836 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
G |
6: 113,371,690 (GRCm39) |
V19G |
probably damaging |
Het |
Ube2r2 |
A |
G |
4: 41,174,119 (GRCm39) |
I86V |
probably benign |
Het |
Vps13d |
G |
A |
4: 144,814,892 (GRCm39) |
T3153I |
probably damaging |
Het |
Wwp1 |
A |
G |
4: 19,627,636 (GRCm39) |
I753T |
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 |
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 |
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 |
|
Posted On |
2013-10-07 |