Incidental Mutation 'IGL02561:Mlip'
ID |
298678 |
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 # |
IGL02561
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 77088633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000184848]
[ENSMUST00000185039]
[ENSMUST00000185144]
|
AlphaFold |
Q5FW52 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034910
|
SMART Domains |
Protein: ENSMUSP00000034910 Gene: ENSMUSG00000032355
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 null
Transcript: ENSMUST00000183955
|
SMART Domains |
Protein: ENSMUSP00000138864 Gene: ENSMUSG00000032355
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 null
Transcript: ENSMUST00000184006
|
SMART Domains |
Protein: ENSMUSP00000139002 Gene: ENSMUSG00000032355
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
67 |
154 |
1.5e-37 |
PFAM |
Pfam:MLIP
|
175 |
270 |
1e-53 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184322
|
SMART Domains |
Protein: ENSMUSP00000139055 Gene: ENSMUSG00000032355
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 |
probably null
Transcript: ENSMUST00000184415
|
SMART Domains |
Protein: ENSMUSP00000139251 Gene: ENSMUSG00000032355
Domain | Start | End | E-Value | Type |
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184848
|
SMART Domains |
Protein: ENSMUSP00000139242 Gene: ENSMUSG00000032355
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 null
Transcript: ENSMUST00000185039
|
SMART Domains |
Protein: ENSMUSP00000139109 Gene: ENSMUSG00000032355
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 null
Transcript: ENSMUST00000185144
|
SMART Domains |
Protein: ENSMUSP00000139362 Gene: ENSMUSG00000032355
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
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 |
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 |
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 |
2015-04-16 |