Incidental Mutation 'R3725:Mlip'
| ID |
270739 |
| 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 |
040716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R3725 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77097662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 282
(S282P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139251
(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: S178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: S178P
| 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: S789P
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: S789P
| 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: S178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: S178P
| 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: S684P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: S684P
| 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 damaging
Transcript: ENSMUST00000184415
AA Change: S282P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: S282P
| 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 |
probably damaging
Transcript: ENSMUST00000185144
AA Change: S745P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: S745P
| 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 |
0.0829 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
96% (55/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
A |
7: 139,563,781 (GRCm39) |
R740S |
possibly damaging |
Het |
| Adamtsl3 |
A |
C |
7: 82,261,612 (GRCm39) |
D1676A |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,922,120 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,515,838 (GRCm39) |
F614I |
possibly damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
| Cfap47 |
T |
A |
X: 78,553,621 (GRCm39) |
T285S |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,014,234 (GRCm39) |
M1197V |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,802,810 (GRCm39) |
F228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,864 (GRCm39) |
M575T |
probably benign |
Het |
| Dhx36 |
A |
T |
3: 62,395,643 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,301,053 (GRCm39) |
I1554L |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,378,665 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,381,594 (GRCm39) |
S2181G |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,060,894 (GRCm39) |
I1959T |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,096,515 (GRCm39) |
K77* |
probably null |
Het |
| Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,775,498 (GRCm39) |
S88P |
probably damaging |
Het |
| Galnt12 |
A |
T |
4: 47,104,140 (GRCm39) |
T133S |
probably damaging |
Het |
| Gja8 |
A |
G |
3: 96,827,161 (GRCm39) |
L167P |
probably damaging |
Het |
| Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmd |
A |
G |
15: 75,737,939 (GRCm39) |
D247G |
probably benign |
Het |
| Iqcg |
A |
G |
16: 32,840,909 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
| Nfxl1 |
A |
T |
5: 72,674,405 (GRCm39) |
D831E |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,325,145 (GRCm39) |
D2506G |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
| Or7a39 |
T |
A |
10: 78,715,766 (GRCm39) |
Y253* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
| Pigc |
G |
A |
1: 161,798,860 (GRCm39) |
G281R |
possibly damaging |
Het |
| Polr3g |
C |
T |
13: 81,842,754 (GRCm39) |
R87H |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,241,449 (GRCm39) |
D502G |
probably benign |
Het |
| Psg18 |
T |
A |
7: 18,088,748 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,247,694 (GRCm39) |
R179C |
probably damaging |
Het |
| Rxra |
A |
G |
2: 27,644,289 (GRCm39) |
D327G |
probably damaging |
Het |
| Samd7 |
T |
C |
3: 30,805,283 (GRCm39) |
V22A |
possibly damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,973 (GRCm39) |
V22D |
possibly damaging |
Het |
| Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
| Smarcb1 |
T |
A |
10: 75,752,620 (GRCm39) |
K73N |
probably benign |
Het |
| Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 139,023,238 (GRCm39) |
K418R |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,640,538 (GRCm39) |
I200V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,221,588 (GRCm39) |
L43* |
probably null |
Het |
| Vmn1r205 |
A |
T |
13: 22,776,671 (GRCm39) |
F144I |
probably damaging |
Het |
| Vmn2r54 |
G |
A |
7: 12,366,223 (GRCm39) |
T237I |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,632,412 (GRCm39) |
F17I |
possibly damaging |
Het |
| Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
A |
4: 144,842,218 (GRCm39) |
|
probably benign |
Het |
| Zkscan5 |
A |
T |
5: 145,157,723 (GRCm39) |
R742W |
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 |
|
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'- TGTGTATGCGTGTAAACAGAAGC -3'
(R):5'- GCAAACTGAAGAGCTCTGTG -3'
Sequencing Primer
(F):5'- GTGTATACCCTAATTGCTAGCTACTG -3'
(R):5'- GCTACCATTGATAAGGTCTTGCAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation