Incidental Mutation 'R7590:Mlip'
| ID |
587362 |
| 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 |
045669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7590 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77137325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 527
(D527E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000184848]
[ENSMUST00000185039]
[ENSMUST00000185144]
|
| AlphaFold |
Q5FW52 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000183955
AA Change: D527E
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: D527E
| 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
|
| 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 benign
Transcript: ENSMUST00000184138
|
| SMART Domains |
Protein: ENSMUSP00000139188
Gene: ENSMUSG00000032355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
67 |
157 |
3e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184316
|
| SMART Domains |
Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184322
AA Change: D450E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: D450E
| 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: ENSMUST00000184415
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 |
possibly damaging
Transcript: ENSMUST00000185144
AA Change: D483E
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: D483E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,829,341 (GRCm39) |
T1373S |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,098,577 (GRCm39) |
N333K |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,969,402 (GRCm39) |
M1L |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,609,087 (GRCm39) |
I157F |
probably damaging |
Het |
| Casp1 |
T |
A |
9: 5,306,710 (GRCm39) |
M384K |
probably damaging |
Het |
| Chpt1 |
A |
G |
10: 88,316,688 (GRCm39) |
S257P |
probably damaging |
Het |
| Dennd4a |
G |
A |
9: 64,795,869 (GRCm39) |
G731D |
probably benign |
Het |
| Dlk2 |
A |
T |
17: 46,609,609 (GRCm39) |
S21C |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,918,854 (GRCm39) |
L620P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,752,435 (GRCm39) |
V414A |
probably benign |
Het |
| Fmo1 |
T |
A |
1: 162,687,251 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,443 (GRCm39) |
N115S |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,668 (GRCm39) |
V905A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,803,779 (GRCm39) |
V490D |
probably benign |
Het |
| Itprid2 |
G |
T |
2: 79,488,454 (GRCm39) |
V846F |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,649,076 (GRCm39) |
S348P |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,409,330 (GRCm39) |
D191E |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5 |
G |
T |
1: 125,954,270 (GRCm39) |
Q761K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,854 (GRCm39) |
D3376E |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 15,006,693 (GRCm38) |
*1116W |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,458,085 (GRCm39) |
I29V |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,386 (GRCm39) |
H95L |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,871,014 (GRCm39) |
I56K |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,686,629 (GRCm39) |
Y526C |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,641,820 (GRCm39) |
L714H |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,232 (GRCm39) |
D223E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Rbm6 |
A |
T |
9: 107,668,949 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,495,466 (GRCm39) |
M352T |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,256,398 (GRCm39) |
I321F |
possibly damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,771 (GRCm39) |
S85P |
possibly damaging |
Het |
| Speer4a2 |
G |
T |
5: 26,290,764 (GRCm39) |
H136N |
possibly damaging |
Het |
| Ssb |
G |
A |
2: 69,697,634 (GRCm39) |
A122T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,466 (GRCm39) |
L40P |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,467,725 (GRCm39) |
V358G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,332 (GRCm39) |
H195Q |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,810 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,788 (GRCm39) |
A206T |
probably damaging |
Het |
| Trim71 |
A |
C |
9: 114,391,893 (GRCm39) |
V98G |
probably benign |
Het |
| Trpm6 |
C |
G |
19: 18,809,945 (GRCm39) |
L1114V |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,489 (GRCm39) |
D601G |
possibly damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,194 (GRCm39) |
I767F |
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 |
|
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 |
|
|
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 |
|
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'- TCTGTCTATCAGGTCTGAGAGG -3'
(R):5'- TTCTGCAGCGAGCTACCAAC -3'
Sequencing Primer
(F):5'- TATCAGGTCTGAGAGGGCCGG -3'
(R):5'- GCGAGCTACCAACCCTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation