Incidental Mutation 'IGL02079:Mlip'
| ID | 186047 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Mlip
|
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| Ensembl Gene |
ENSMUSG00000032355 |
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| Gene Name | muscular LMNA-interacting protein |
|---|
| Synonyms | 2310046A06Rik, CIP, cardiac ISL1-interacting protein |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.105)
|
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| Stock # | IGL02079
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 9 |
|---|
| Chromosomal Location | 77102081-77352969 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 77239529 bp
|
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| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Threonine to Alanine
at position 101
(T101A)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000139055
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000184848]
[ENSMUST00000185039]
[ENSMUST00000185144]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034910
AA Change: T109A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: T109A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
69 |
155 |
1.3e-24 |
PFAM |
|
Pfam:MLIP
|
175 |
269 |
1.9e-42 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183955
AA Change: T153A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: T153A
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000184006
AA Change: T109A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
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| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: T109A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
154 |
1.5e-37 |
PFAM |
|
Pfam:MLIP
|
175 |
270 |
1e-53 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184106
|
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| SMART Domains |
Protein: ENSMUSP00000138851
Gene: ENSMUSG00000032355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
38 |
138 |
2.4e-38 |
PFAM |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184138
AA Change: T109A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355
AA Change: T109A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
157 |
3e-38 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000184316
AA Change: T153A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
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| SMART Domains |
Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355
AA Change: T153A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
PFAM |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184322
AA Change: T101A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
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| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: T101A
| 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 |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000184415
AA Change: T161A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
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| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: T161A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000184848
AA Change: T109A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: T109A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
154 |
3.7e-38 |
PFAM |
|
Pfam:MLIP
|
153 |
227 |
5.4e-44 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000185039
AA Change: T161A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
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| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: T161A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
207 |
3.9e-38 |
PFAM |
|
Pfam:MLIP
|
205 |
279 |
6.4e-44 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000185144
AA Change: T109A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
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| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: T109A
| 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 |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display increased cardiac sensitivity to induced stress. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5330417C22Rik |
T |
A |
3: 108,481,359 |
N236I |
possibly damaging |
Het |
| Abl1 |
T |
C |
2: 31,689,948 |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,517,084 |
M204K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,628,634 |
V2422A |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,477,113 |
|
probably null |
Het |
| Arsa |
T |
C |
15: 89,473,351 |
T470A |
probably benign |
Het |
| Bri3bp |
T |
C |
5: 125,454,689 |
V233A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 |
G219V |
probably damaging |
Het |
| Ephb6 |
T |
A |
6: 41,616,014 |
D395E |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,568,831 |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,399,624 |
N1080I |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 80,239,020 |
D266E |
probably benign |
Het |
| Gspt1 |
A |
G |
16: 11,240,829 |
S123P |
probably benign |
Het |
| Kctd17 |
T |
C |
15: 78,430,156 |
|
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,482,113 |
C313S |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,555,687 |
S106R |
probably benign |
Het |
| Lgr5 |
A |
C |
10: 115,452,194 |
S776R |
probably damaging |
Het |
| Mettl16 |
T |
G |
11: 74,817,624 |
C510G |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 54,950,541 |
L1152Q |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,860,631 |
R87H |
possibly damaging |
Het |
| Npepl1 |
C |
T |
2: 174,119,390 |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,643,083 |
M548K |
probably damaging |
Het |
| Olfr1205 |
T |
A |
2: 88,831,647 |
C177S |
probably damaging |
Het |
| Olfr514 |
T |
A |
7: 108,825,936 |
E21V |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,646,153 |
Q69L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,742,003 |
V192A |
possibly damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,972,343 |
I211N |
probably benign |
Het |
| Plekhg3 |
T |
A |
12: 76,560,429 |
Y88N |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,738,970 |
C58Y |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 108,068,302 |
R390* |
probably null |
Het |
| Rusc2 |
A |
G |
4: 43,425,668 |
S1258G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,323,360 |
R710G |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,876,058 |
S457P |
probably damaging |
Het |
| Xdh |
C |
T |
17: 73,891,277 |
G1205D |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 81,039,230 |
S1080P |
probably benign |
Het |
|
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| Other mutations in Mlip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Mlip
|
APN |
9 |
77239417 |
missense |
possibly damaging |
0.89 |
|
IGL01727:Mlip
|
APN |
9 |
77239748 |
missense |
probably damaging |
0.99 |
|
IGL01918:Mlip
|
APN |
9 |
77173999 |
missense |
probably damaging |
1.00 |
|
IGL02561:Mlip
|
APN |
9 |
77181351 |
critical splice donor site |
probably null |
|
|
R0393:Mlip
|
UTSW |
9 |
77239577 |
missense |
probably benign |
0.02 |
|
R2091:Mlip
|
UTSW |
9 |
77164863 |
missense |
possibly damaging |
0.58 |
|
R3725:Mlip
|
UTSW |
9 |
77190380 |
missense |
probably damaging |
1.00 |
|
R5334:Mlip
|
UTSW |
9 |
77243676 |
missense |
probably damaging |
1.00 |
|
R5591:Mlip
|
UTSW |
9 |
77230482 |
missense |
probably damaging |
0.96 |
|
R5592:Mlip
|
UTSW |
9 |
77230482 |
missense |
probably damaging |
0.96 |
|
R5686:Mlip
|
UTSW |
9 |
77347693 |
critical splice donor site |
probably null |
|
|
R5820:Mlip
|
UTSW |
9 |
77230482 |
missense |
probably damaging |
0.96 |
|
R6125:Mlip
|
UTSW |
9 |
77230482 |
missense |
probably damaging |
0.96 |
|
R6187:Mlip
|
UTSW |
9 |
77230482 |
missense |
probably damaging |
0.96 |
|
R6803:Mlip
|
UTSW |
9 |
77190381 |
missense |
probably damaging |
0.99 |
|
R6860:Mlip
|
UTSW |
9 |
77102393 |
makesense |
probably null |
|
|
R7031:Mlip
|
UTSW |
9 |
77138553 |
missense |
probably benign |
0.03 |
|
R7206:Mlip
|
UTSW |
9 |
77164862 |
missense |
probably damaging |
0.96 |
|
R7326:Mlip
|
UTSW |
9 |
77164842 |
missense |
probably benign |
0.24 |
|
R7506:Mlip
|
UTSW |
9 |
77164803 |
missense |
probably damaging |
1.00 |
|
R7509:Mlip
|
UTSW |
9 |
77181396 |
missense |
probably damaging |
0.99 |
|
R7563:Mlip
|
UTSW |
9 |
77112997 |
missense |
probably damaging |
0.99 |
|
R7590:Mlip
|
UTSW |
9 |
77230043 |
missense |
probably benign |
0.15 |
|
R7615:Mlip
|
UTSW |
9 |
77230483 |
missense |
probably damaging |
1.00 |
|
R7664:Mlip
|
UTSW |
9 |
77138546 |
missense |
possibly damaging |
0.90 |
|
R7755:Mlip
|
UTSW |
9 |
77229556 |
missense |
probably benign |
0.30 |
|
R8110:Mlip
|
UTSW |
9 |
77239579 |
missense |
probably damaging |
0.97 |
|
R8432:Mlip
|
UTSW |
9 |
77190729 |
missense |
possibly damaging |
0.91 |
|
|---|
| Posted On | 2014-05-07 |
|---|
