Incidental Mutation 'R7506:Mlip'
| ID |
581797 |
| 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 |
045579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R7506 (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 77072085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 257
(K257E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034910
(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: K257E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034910
Gene: ENSMUSG00000032355
AA Change: K257E
| 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 damaging
Transcript: ENSMUST00000183955
AA Change: K868E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: K868E
| 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: K257E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139002
Gene: ENSMUSG00000032355
AA Change: K257E
| 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: K763E
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
AA Change: K763E
| 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: K361E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: K361E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184848
AA Change: K215E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139242
Gene: ENSMUSG00000032355
AA Change: K215E
| 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: K267E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: K267E
| 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: K824E
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
AA Change: K824E
| 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 |
0.1921 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,209,202 (GRCm39) |
V31I |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,450,498 (GRCm39) |
V24A |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,164,186 (GRCm39) |
R334W |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,088,562 (GRCm39) |
C116Y |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,561,740 (GRCm39) |
I74N |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,722,138 (GRCm39) |
V460M |
possibly damaging |
Het |
| Ccdc18 |
G |
A |
5: 108,311,605 (GRCm39) |
C437Y |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,034,396 (GRCm39) |
S755P |
probably damaging |
Het |
| Crtc2 |
G |
T |
3: 90,166,519 (GRCm39) |
A165S |
probably damaging |
Het |
| Cwf19l2 |
C |
T |
9: 3,456,775 (GRCm39) |
H703Y |
probably damaging |
Het |
| Cyc1 |
C |
A |
15: 76,227,885 (GRCm39) |
T41K |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,360,221 (GRCm39) |
H12L |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,666,521 (GRCm39) |
C577S |
probably benign |
Het |
| Ggt6 |
G |
T |
11: 72,328,724 (GRCm39) |
C408F |
possibly damaging |
Het |
| Gm3278 |
T |
A |
14: 16,080,479 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,198,683 (GRCm39) |
L412P |
probably damaging |
Het |
| Gucd1 |
T |
C |
10: 75,347,019 (GRCm39) |
H77R |
probably benign |
Het |
| H2bc8 |
G |
A |
13: 23,755,658 (GRCm39) |
A18T |
unknown |
Het |
| Hat1 |
T |
A |
2: 71,250,691 (GRCm39) |
I158N |
probably damaging |
Het |
| Hhla1 |
C |
T |
15: 65,808,231 (GRCm39) |
W271* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,226,775 (GRCm39) |
L2299F |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,644,891 (GRCm39) |
S914P |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,639,788 (GRCm39) |
H983Q |
possibly damaging |
Het |
| Irx2 |
G |
T |
13: 72,777,328 (GRCm39) |
G50C |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,357,064 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,157,045 (GRCm39) |
E1405G |
unknown |
Het |
| Mdm2 |
T |
C |
10: 117,526,596 (GRCm39) |
D330G |
possibly damaging |
Het |
| Mgat5 |
A |
C |
1: 127,294,192 (GRCm39) |
D178A |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,386,176 (GRCm39) |
R25L |
probably benign |
Het |
| Mtfr2 |
T |
C |
10: 20,229,131 (GRCm39) |
S80P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,153 (GRCm39) |
V29A |
probably benign |
Het |
| Negr1 |
T |
G |
3: 156,774,870 (GRCm39) |
Y195* |
probably null |
Het |
| Nptn |
T |
C |
9: 58,526,156 (GRCm39) |
L101P |
probably damaging |
Het |
| Nrip1 |
G |
A |
16: 76,091,347 (GRCm39) |
T70I |
probably damaging |
Het |
| Nrtn |
C |
T |
17: 57,058,633 (GRCm39) |
V123M |
probably damaging |
Het |
| Onecut1 |
T |
A |
9: 74,770,522 (GRCm39) |
F315Y |
possibly damaging |
Het |
| Or1p1 |
A |
T |
11: 74,179,949 (GRCm39) |
H159L |
possibly damaging |
Het |
| P4htm |
A |
G |
9: 108,460,878 (GRCm39) |
L198S |
probably damaging |
Het |
| Pappa |
A |
C |
4: 65,149,419 (GRCm39) |
I920L |
probably benign |
Het |
| Pcdhgb5 |
A |
C |
18: 37,865,525 (GRCm39) |
D440A |
probably damaging |
Het |
| Ppard |
A |
T |
17: 28,517,735 (GRCm39) |
N268Y |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,526,997 (GRCm39) |
S563T |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,407,118 (GRCm39) |
E949D |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,127,561 (GRCm39) |
M629T |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,067 (GRCm39) |
I319T |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,171,112 (GRCm39) |
W925* |
probably null |
Het |
| Spag9 |
G |
A |
11: 93,999,290 (GRCm39) |
D1069N |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,868,892 (GRCm39) |
V163A |
possibly damaging |
Het |
| Tmem150a |
G |
A |
6: 72,333,753 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,934,665 (GRCm39) |
V2425I |
possibly damaging |
Het |
| Tppp2 |
A |
G |
14: 52,158,058 (GRCm39) |
K168E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,719,812 (GRCm39) |
D7099V |
unknown |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,159 (GRCm39) |
R50* |
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,861 (GRCm39) |
K80E |
|
Het |
| Vmn2r18 |
A |
G |
5: 151,508,485 (GRCm39) |
F213S |
possibly damaging |
Het |
| Vmn2r26 |
G |
A |
6: 124,016,700 (GRCm39) |
S388N |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,391 (GRCm39) |
F474Y |
probably damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,309,875 (GRCm39) |
R316* |
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,612,211 (GRCm39) |
I225N |
probably damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,542 (GRCm39) |
E347G |
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 |
|
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'- GAATTTCCATTTGGACACACATTTCCC -3'
(R):5'- GTAGATCTTTACAACTTGGTTGCTACC -3'
Sequencing Primer
(F):5'- CCCTGTTCCATTATCTGGGATAG -3'
(R):5'- AATCTGATTTCTAGGCCATTTTATCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation