Incidental Mutation 'R0393:Mlip'
| ID |
31797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlip
|
| Ensembl Gene |
ENSMUSG00000032355 |
| Gene Name |
muscular LMNA-interacting protein |
| Synonyms |
CIP, 2310046A06Rik, cardiac ISL1-interacting protein |
| MMRRC Submission |
038599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77146859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 85
(C85S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000185039]
[ENSMUST00000185144]
[ENSMUST00000184415]
[ENSMUST00000184848]
|
| AlphaFold |
Q5FW52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034910
AA Change: C93S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: C93S
| 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: C137S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: C137S
| 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: C93S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: C93S
| 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: C93S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355
AA Change: C93S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
157 |
3e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184316
AA Change: C137S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355
AA Change: C137S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184322
AA Change: C85S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: C85S
| 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 benign
Transcript: ENSMUST00000185039
AA Change: C145S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: C145S
| 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: ENSMUST00000185144
AA Change: C93S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: C93S
| 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: ENSMUST00000184415
AA Change: C145S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: C145S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184848
AA Change: C93S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: C93S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
154 |
3.7e-38 |
PFAM |
|
Pfam:MLIP
|
153 |
227 |
5.4e-44 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,591,604 (GRCm39) |
|
probably benign |
Het |
| Akr1b7 |
T |
G |
6: 34,392,335 (GRCm39) |
Y49* |
probably null |
Het |
| Ankrd10 |
G |
T |
8: 11,685,482 (GRCm39) |
R46S |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,085,681 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,965,221 (GRCm39) |
|
probably null |
Het |
| Bicd2 |
C |
T |
13: 49,533,346 (GRCm39) |
T644M |
probably damaging |
Het |
| Ccr9 |
A |
T |
9: 123,609,035 (GRCm39) |
H239L |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,842,408 (GRCm39) |
N485Y |
probably damaging |
Het |
| Ces1d |
T |
A |
8: 93,919,400 (GRCm39) |
S131C |
probably damaging |
Het |
| Cnpy2 |
T |
A |
10: 128,162,076 (GRCm39) |
S116R |
probably benign |
Het |
| Crym |
T |
C |
7: 119,788,972 (GRCm39) |
K285R |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,293 (GRCm39) |
I359F |
possibly damaging |
Het |
| Cyp2b10 |
T |
A |
7: 25,614,359 (GRCm39) |
|
probably benign |
Het |
| Dcpp3 |
A |
T |
17: 24,136,925 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,927,364 (GRCm39) |
I1340K |
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,111,277 (GRCm39) |
C144R |
probably damaging |
Het |
| Gm1553 |
T |
C |
10: 82,328,010 (GRCm39) |
R66G |
unknown |
Het |
| Il10rb |
G |
A |
16: 91,208,898 (GRCm39) |
V103I |
probably benign |
Het |
| Irak1bp1 |
T |
A |
9: 82,728,614 (GRCm39) |
W182R |
probably benign |
Het |
| Kcna3 |
T |
C |
3: 106,944,315 (GRCm39) |
S193P |
probably damaging |
Het |
| Kif14 |
C |
T |
1: 136,410,156 (GRCm39) |
H628Y |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,941,079 (GRCm39) |
L77P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,940 (GRCm39) |
A211T |
possibly damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,137,892 (GRCm39) |
T743A |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,821,664 (GRCm39) |
T1346M |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,384 (GRCm39) |
|
probably null |
Het |
| Mif |
T |
C |
10: 75,695,638 (GRCm39) |
D55G |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,361 (GRCm39) |
C608* |
probably null |
Het |
| Mug1 |
T |
C |
6: 121,826,809 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mybl2 |
T |
A |
2: 162,903,528 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
C |
T |
11: 67,196,843 (GRCm39) |
|
probably benign |
Het |
| Nanos1 |
A |
G |
19: 60,745,368 (GRCm39) |
Y222C |
probably damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,044,037 (GRCm39) |
Y267F |
probably benign |
Het |
| Or2n1e |
G |
T |
17: 38,585,774 (GRCm39) |
M37I |
probably benign |
Het |
| Or5d16 |
T |
C |
2: 87,773,909 (GRCm39) |
D21G |
possibly damaging |
Het |
| Papolb |
A |
G |
5: 142,515,211 (GRCm39) |
V144A |
probably damaging |
Het |
| Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
| Plod1 |
A |
T |
4: 148,003,298 (GRCm39) |
L509Q |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,802,122 (GRCm39) |
M290I |
probably benign |
Het |
| Ralb |
G |
C |
1: 119,405,856 (GRCm39) |
|
probably null |
Het |
| Rxylt1 |
T |
C |
10: 121,931,841 (GRCm39) |
|
probably benign |
Het |
| Slc4a8 |
T |
A |
15: 100,672,519 (GRCm39) |
D18E |
probably damaging |
Het |
| Speg |
A |
C |
1: 75,400,568 (GRCm39) |
H2576P |
possibly damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,349 (GRCm39) |
D241G |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,175,040 (GRCm39) |
V165E |
probably benign |
Het |
| Thbs1 |
T |
A |
2: 117,943,472 (GRCm39) |
V30E |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,077,265 (GRCm39) |
Y834H |
possibly damaging |
Het |
| Trpm6 |
G |
A |
19: 18,756,008 (GRCm39) |
D84N |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,737,427 (GRCm39) |
Q1039L |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,171 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,242 (GRCm39) |
Y181H |
possibly damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,395 (GRCm39) |
T679A |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,712 (GRCm39) |
Y110F |
probably damaging |
Het |
| Zbtb40 |
A |
C |
4: 136,745,842 (GRCm39) |
S64A |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,131,252 (GRCm39) |
|
probably benign |
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 |
|
IGL02561:Mlip
|
APN |
9 |
77,088,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGATTGTCGTGATCTTGAGCC -3'
(R):5'- ATGACCTTCAGCTCTGAGAGCAAAC -3'
Sequencing Primer
(F):5'- AGCCCATGCTTTTGCTGAG -3'
(R):5'- CTCTGAGAGCAAACAAGAGAGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation