Incidental Mutation 'R7031:Mlip'
| ID |
546332 |
| 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 |
045132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R7031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77045835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 375
(M375L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183686]
[ENSMUST00000183955]
[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: ENSMUST00000183686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183955
AA Change: M882L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: M882L
| 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: ENSMUST00000184322
|
| SMART Domains |
Protein: ENSMUSP00000139055
Gene: ENSMUSG00000032355
| 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
AA Change: M375L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: M375L
| 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 benign
Transcript: ENSMUST00000185144
|
| SMART Domains |
Protein: ENSMUSP00000139362
Gene: ENSMUSG00000032355
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
| Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
| Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
| Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
| Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
| Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
| Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,931 (GRCm39) |
D129G |
probably benign |
Het |
| Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
| Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
| Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,355,659 (GRCm39) |
G340D |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,277,395 (GRCm39) |
E745G |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
| Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
| Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
| Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
| Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,182,043 (GRCm39) |
K31N |
possibly damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
| Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
| Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
| Trpc3 |
A |
C |
3: 36,675,459 (GRCm39) |
I893S |
probably benign |
Het |
| Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
| Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
| Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
| Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
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 |
|
|
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 |
|
|
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'- TATGTGTCCTGACTAAGAAGAGTGG -3'
(R):5'- GTTGCAAGCCTCTGTTTTGC -3'
Sequencing Primer
(F):5'- CTAAGAAGAGTGGGGGATTTCTCC -3'
(R):5'- AGCCTCTGTTTTGCTTGCAGAAAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation