Incidental Mutation 'IGL01411:Mlip'
ID |
80025 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mlip
|
Ensembl Gene |
ENSMUSG00000032355 |
Gene Name |
muscular LMNA-interacting protein |
Synonyms |
CIP, 2310046A06Rik, cardiac ISL1-interacting protein |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
IGL01411
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77146699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 198
(I198T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139109
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000185039]
[ENSMUST00000184415]
[ENSMUST00000185144]
[ENSMUST00000184848]
|
AlphaFold |
Q5FW52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034910
AA Change: I146T
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034910 Gene: ENSMUSG00000032355 AA Change: I146T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
69 |
155 |
1.3e-24 |
PFAM |
Pfam:MLIP
|
175 |
269 |
1.9e-42 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183955
AA Change: I190T
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138864 Gene: ENSMUSG00000032355 AA Change: I190T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
111 |
210 |
7.6e-37 |
PFAM |
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
low complexity region
|
375 |
387 |
N/A |
INTRINSIC |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
low complexity region
|
437 |
455 |
N/A |
INTRINSIC |
low complexity region
|
528 |
541 |
N/A |
INTRINSIC |
low complexity region
|
636 |
651 |
N/A |
INTRINSIC |
Pfam:MLIP
|
654 |
881 |
8.5e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184006
AA Change: I146T
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139002 Gene: ENSMUSG00000032355 AA Change: I146T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
67 |
154 |
1.5e-37 |
PFAM |
Pfam:MLIP
|
175 |
270 |
1e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184106
|
SMART Domains |
Protein: ENSMUSP00000138851 Gene: ENSMUSG00000032355
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
38 |
138 |
2.4e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184138
AA Change: I146T
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139188 Gene: ENSMUSG00000032355 AA Change: I146T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
67 |
157 |
3e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184316
AA Change: I190T
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138938 Gene: ENSMUSG00000032355 AA Change: I190T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184322
AA Change: I138T
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139055 Gene: ENSMUSG00000032355 AA Change: I138T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
59 |
149 |
5.3e-37 |
PFAM |
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
low complexity region
|
298 |
310 |
N/A |
INTRINSIC |
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
low complexity region
|
360 |
378 |
N/A |
INTRINSIC |
low complexity region
|
451 |
464 |
N/A |
INTRINSIC |
low complexity region
|
559 |
574 |
N/A |
INTRINSIC |
Pfam:MLIP
|
577 |
683 |
5.8e-23 |
PFAM |
Pfam:MLIP
|
681 |
775 |
6.5e-53 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185039
AA Change: I198T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139109 Gene: ENSMUSG00000032355 AA Change: I198T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
119 |
207 |
3.9e-38 |
PFAM |
Pfam:MLIP
|
205 |
279 |
6.4e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184415
AA Change: I198T
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139251 Gene: ENSMUSG00000032355 AA Change: I198T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185144
AA Change: I146T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139362 Gene: ENSMUSG00000032355 AA Change: I146T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
67 |
166 |
6.3e-37 |
PFAM |
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
low complexity region
|
375 |
386 |
N/A |
INTRINSIC |
low complexity region
|
393 |
411 |
N/A |
INTRINSIC |
low complexity region
|
484 |
497 |
N/A |
INTRINSIC |
low complexity region
|
592 |
607 |
N/A |
INTRINSIC |
Pfam:MLIP
|
609 |
836 |
4.7e-102 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184848
AA Change: I146T
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000139242 Gene: ENSMUSG00000032355 AA Change: I146T
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
67 |
154 |
3.7e-38 |
PFAM |
Pfam:MLIP
|
153 |
227 |
5.4e-44 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display increased cardiac sensitivity to induced stress. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,505,087 (GRCm39) |
D468E |
possibly damaging |
Het |
B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 58,024,919 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,794,103 (GRCm39) |
N164K |
probably damaging |
Het |
Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
Wt1 |
A |
G |
2: 104,963,319 (GRCm39) |
Y16C |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
Het |
|
Other mutations in Mlip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01727:Mlip
|
APN |
9 |
77,147,030 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01918:Mlip
|
APN |
9 |
77,081,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02079:Mlip
|
APN |
9 |
77,146,811 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02561:Mlip
|
APN |
9 |
77,088,633 (GRCm39) |
critical splice donor site |
probably null |
|
R0393:Mlip
|
UTSW |
9 |
77,146,859 (GRCm39) |
missense |
probably benign |
0.02 |
R2091:Mlip
|
UTSW |
9 |
77,072,145 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3725:Mlip
|
UTSW |
9 |
77,097,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Mlip
|
UTSW |
9 |
77,150,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R5591:Mlip
|
UTSW |
9 |
77,137,764 (GRCm39) |
missense |
probably damaging |
0.96 |
R5592:Mlip
|
UTSW |
9 |
77,137,764 (GRCm39) |
missense |
probably damaging |
0.96 |
R5686:Mlip
|
UTSW |
9 |
77,254,975 (GRCm39) |
critical splice donor site |
probably null |
|
R5820:Mlip
|
UTSW |
9 |
77,137,764 (GRCm39) |
missense |
probably damaging |
0.96 |
R6125:Mlip
|
UTSW |
9 |
77,137,764 (GRCm39) |
missense |
probably damaging |
0.96 |
R6187:Mlip
|
UTSW |
9 |
77,137,764 (GRCm39) |
missense |
probably damaging |
0.96 |
R6803:Mlip
|
UTSW |
9 |
77,097,663 (GRCm39) |
missense |
probably damaging |
0.99 |
R6860:Mlip
|
UTSW |
9 |
77,009,675 (GRCm39) |
makesense |
probably null |
|
R7031:Mlip
|
UTSW |
9 |
77,045,835 (GRCm39) |
missense |
probably benign |
0.03 |
R7206:Mlip
|
UTSW |
9 |
77,072,144 (GRCm39) |
missense |
probably damaging |
0.96 |
R7326:Mlip
|
UTSW |
9 |
77,072,124 (GRCm39) |
missense |
probably benign |
0.24 |
R7506:Mlip
|
UTSW |
9 |
77,072,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Mlip
|
UTSW |
9 |
77,088,678 (GRCm39) |
missense |
probably damaging |
0.99 |
R7563:Mlip
|
UTSW |
9 |
77,020,279 (GRCm39) |
missense |
probably damaging |
0.99 |
R7590:Mlip
|
UTSW |
9 |
77,137,325 (GRCm39) |
missense |
probably benign |
0.15 |
R7615:Mlip
|
UTSW |
9 |
77,137,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Mlip
|
UTSW |
9 |
77,045,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7755:Mlip
|
UTSW |
9 |
77,136,838 (GRCm39) |
missense |
probably benign |
0.30 |
R8110:Mlip
|
UTSW |
9 |
77,146,861 (GRCm39) |
missense |
probably damaging |
0.97 |
R8432:Mlip
|
UTSW |
9 |
77,098,011 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9091:Mlip
|
UTSW |
9 |
77,137,080 (GRCm39) |
missense |
probably benign |
0.00 |
R9148:Mlip
|
UTSW |
9 |
77,045,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9270:Mlip
|
UTSW |
9 |
77,137,080 (GRCm39) |
missense |
probably benign |
0.00 |
R9312:Mlip
|
UTSW |
9 |
77,147,060 (GRCm39) |
missense |
probably damaging |
0.96 |
R9590:Mlip
|
UTSW |
9 |
77,045,834 (GRCm39) |
missense |
probably benign |
0.03 |
R9609:Mlip
|
UTSW |
9 |
77,045,797 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2013-11-05 |