Incidental Mutation 'IGL01918:Mlip'
| ID |
180024 |
| 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 # |
IGL01918
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77081281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 213
(N213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000184848]
[ENSMUST00000185039]
[ENSMUST00000185144]
|
| AlphaFold |
Q5FW52 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034910
AA Change: N213S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: N213S
| 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: N824S
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: N824S
| 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: N213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: N213S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
154 |
1.5e-37 |
PFAM |
|
Pfam:MLIP
|
175 |
270 |
1e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184322
AA Change: N719S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: N719S
| 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: N317S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: N317S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184848
AA Change: N171S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: N171S
| 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: N223S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: N223S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
207 |
3.9e-38 |
PFAM |
|
Pfam:MLIP
|
205 |
279 |
6.4e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185144
AA Change: N780S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: N780S
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,097,098 (GRCm39) |
Q71R |
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,631,281 (GRCm39) |
V409A |
probably benign |
Het |
| Ap4m1 |
A |
G |
5: 138,171,106 (GRCm39) |
T69A |
probably damaging |
Het |
| B3gat2 |
A |
T |
1: 23,884,209 (GRCm39) |
K306* |
probably null |
Het |
| Calr |
A |
G |
8: 85,569,479 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
C |
T |
16: 50,411,215 (GRCm39) |
W17* |
probably null |
Het |
| Cd68 |
T |
C |
11: 69,555,927 (GRCm39) |
S204G |
possibly damaging |
Het |
| Cep128 |
A |
T |
12: 91,200,984 (GRCm39) |
I342K |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,904,703 (GRCm39) |
I346L |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,475,467 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,478,866 (GRCm39) |
R197S |
possibly damaging |
Het |
| Ddx31 |
G |
T |
2: 28,764,176 (GRCm39) |
V461F |
probably damaging |
Het |
| Eps15l1 |
T |
C |
8: 73,121,756 (GRCm39) |
M714V |
possibly damaging |
Het |
| Fshb |
A |
T |
2: 106,889,272 (GRCm39) |
F11I |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,822,482 (GRCm39) |
C6072G |
possibly damaging |
Het |
| Fuz |
T |
G |
7: 44,546,383 (GRCm39) |
L93R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm8991 |
G |
A |
5: 16,935,678 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
C |
A |
9: 62,680,278 (GRCm39) |
N973K |
probably benign |
Het |
| Lca5 |
T |
A |
9: 83,305,201 (GRCm39) |
T202S |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,390,458 (GRCm39) |
L3053F |
probably damaging |
Het |
| Mapk13 |
T |
C |
17: 28,994,304 (GRCm39) |
Y129H |
probably damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,838 (GRCm39) |
H512L |
probably damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,675,263 (GRCm39) |
G734R |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,686,985 (GRCm39) |
I30N |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,675 (GRCm39) |
I219T |
probably damaging |
Het |
| Pctp |
T |
C |
11: 89,878,162 (GRCm39) |
D124G |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,565 (GRCm39) |
|
probably null |
Het |
| Plat |
T |
A |
8: 23,270,453 (GRCm39) |
F457I |
possibly damaging |
Het |
| Snw1 |
T |
C |
12: 87,502,438 (GRCm39) |
K319E |
probably benign |
Het |
| Sox8 |
A |
G |
17: 25,789,111 (GRCm39) |
L129P |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,269,103 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,241,450 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
T |
A |
1: 132,435,698 (GRCm39) |
V168D |
probably damaging |
Het |
| Ttc41 |
C |
A |
10: 86,549,054 (GRCm39) |
Q83K |
probably damaging |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,267 (GRCm39) |
V165A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps33b |
A |
G |
7: 79,937,560 (GRCm39) |
|
probably null |
Het |
| Zap70 |
T |
C |
1: 36,817,868 (GRCm39) |
Y290H |
possibly 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 |
|
IGL01727:Mlip
|
APN |
9 |
77,147,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation