Incidental Mutation 'R7755:Mlip'
| ID |
597507 |
| 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 |
045811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77136838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 690
(T690A)
|
| 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: T690A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: T690A
| 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: T613A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: T613A
| 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: T646A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: T646A
| 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 |
0.0618 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,349 (GRCm39) |
Y107C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,289,206 (GRCm39) |
S452P |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,018,802 (GRCm39) |
L215P |
probably benign |
Het |
| Carf |
T |
A |
1: 60,187,214 (GRCm39) |
S606T |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,461,684 (GRCm39) |
T522S |
probably benign |
Het |
| Ctsll3 |
A |
T |
13: 60,948,219 (GRCm39) |
F153I |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,284,889 (GRCm39) |
T3509I |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,580,170 (GRCm39) |
S377P |
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,838,525 (GRCm39) |
A659V |
probably benign |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,015,490 (GRCm39) |
D3598G |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,774,552 (GRCm39) |
N779S |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,339 (GRCm39) |
F29L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,849,003 (GRCm39) |
I367K |
possibly damaging |
Het |
| Ivl |
T |
A |
3: 92,479,317 (GRCm39) |
K249N |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,821,546 (GRCm39) |
I490F |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,467,005 (GRCm39) |
D227E |
possibly damaging |
Het |
| Mrgprf |
T |
C |
7: 144,862,380 (GRCm39) |
L314P |
probably damaging |
Het |
| Ndufb9 |
T |
G |
15: 58,808,255 (GRCm39) |
Y80* |
probably null |
Het |
| Neto2 |
C |
T |
8: 86,396,285 (GRCm39) |
R155H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,470,470 (GRCm39) |
N365K |
possibly damaging |
Het |
| Nsl1 |
G |
A |
1: 190,795,380 (GRCm39) |
V49M |
probably benign |
Het |
| Nudt21 |
T |
A |
8: 94,749,493 (GRCm39) |
Y191F |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,467 (GRCm39) |
R226G |
probably damaging |
Het |
| Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,709,278 (GRCm39) |
Y679C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,717 (GRCm39) |
D956G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,157,733 (GRCm39) |
|
probably benign |
Het |
| Pparg |
C |
T |
6: 115,440,067 (GRCm39) |
P214S |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,630,883 (GRCm39) |
Y582F |
unknown |
Het |
| Prdm9 |
C |
T |
17: 15,765,226 (GRCm39) |
C518Y |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,864,540 (GRCm39) |
E2V |
probably damaging |
Het |
| Rpl19 |
T |
C |
11: 97,919,193 (GRCm39) |
I45T |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,807 (GRCm39) |
D255G |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,970,847 (GRCm39) |
K627E |
probably damaging |
Het |
| Sirt3 |
T |
C |
7: 140,457,963 (GRCm39) |
D62G |
|
Het |
| Slc22a30 |
T |
C |
19: 8,314,133 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,466 (GRCm39) |
T329A |
probably damaging |
Het |
| Slc6a17 |
C |
T |
3: 107,381,671 (GRCm39) |
G470D |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,044,181 (GRCm39) |
I3923L |
probably benign |
Het |
| Tiam2 |
C |
T |
17: 3,471,591 (GRCm39) |
S411L |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,182 (GRCm39) |
C638R |
unknown |
Het |
| Tnrc6c |
A |
G |
11: 117,648,912 (GRCm39) |
T1528A |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,262,274 (GRCm39) |
I404T |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,782,294 (GRCm39) |
S375T |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,330,311 (GRCm39) |
I532F |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,367 (GRCm39) |
M1T |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,526 (GRCm39) |
V2589A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,624,240 (GRCm39) |
Q203* |
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 |
|
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 |
|
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'- GTGCATGTTCCTAAATTCACAGTC -3'
(R):5'- ATCCAAAAGAGCGTGCTCC -3'
Sequencing Primer
(F):5'- CTTGGGCTTCTTATTTTCAG -3'
(R):5'- ACTCCTCCAGTCTCCAGGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation