Incidental Mutation 'IGL01727:Mlip'
| ID |
105326 |
| 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: 0.088)
|
| Stock # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77147030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 88
(S88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000185144]
[ENSMUST00000184848]
[ENSMUST00000185039]
|
| AlphaFold |
Q5FW52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034910
AA Change: S36G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: S36G
| 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 damaging
Transcript: ENSMUST00000183955
AA Change: S80G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: S80G
| 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 damaging
Transcript: ENSMUST00000184006
AA Change: S36G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: S36G
| 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: S36G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355
AA Change: S36G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
157 |
3e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184316
AA Change: S80G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355
AA Change: S80G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184322
AA Change: S28G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: S28G
| 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: ENSMUST00000184415
AA Change: S88G
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: S88G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185144
AA Change: S36G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: S36G
| 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 damaging
Transcript: ENSMUST00000184848
AA Change: S36G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: S36G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
154 |
3.7e-38 |
PFAM |
|
Pfam:MLIP
|
153 |
227 |
5.4e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185039
AA Change: S88G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: S88G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
207 |
3.9e-38 |
PFAM |
|
Pfam:MLIP
|
205 |
279 |
6.4e-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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lancl1 |
C |
T |
1: 67,060,101 (GRCm39) |
C108Y |
probably damaging |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Mlip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Mlip
|
APN |
9 |
77,146,699 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
2014-01-21 |
Incidental Mutation