Incidental Mutation 'R5334:Mlip'
| ID |
423417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlip
|
| Ensembl Gene |
ENSMUSG00000032355 |
| Gene Name |
muscular LMNA-interacting protein |
| Synonyms |
CIP, 2310046A06Rik, cardiac ISL1-interacting protein |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
77009366-77260062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77150958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 33
(T33S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034910]
[ENSMUST00000183955]
[ENSMUST00000184006]
[ENSMUST00000184138]
[ENSMUST00000184316]
[ENSMUST00000184322]
[ENSMUST00000184415]
[ENSMUST00000185039]
[ENSMUST00000184848]
[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 damaging
Transcript: ENSMUST00000183955
AA Change: T33S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: T33S
| 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 |
noncoding transcript
Transcript: ENSMUST00000184106
|
| SMART Domains |
Protein: ENSMUSP00000138851
Gene: ENSMUSG00000032355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
38 |
138 |
2.4e-38 |
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
AA Change: T33S
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138938
Gene: ENSMUSG00000032355
AA Change: T33S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
111 |
200 |
5.7e-38 |
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: T41S
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: T41S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MLIP
|
119 |
374 |
1.1e-144 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185039
AA Change: T41S
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139109
Gene: ENSMUSG00000032355
AA Change: T41S
| 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: 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: 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
| Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
| Aqp9 |
T |
C |
9: 71,030,292 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,455,465 (GRCm39) |
V573A |
probably damaging |
Het |
| Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
| Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,897,073 (GRCm39) |
S276P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
| Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
| Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
| Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
| Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
| Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,129,548 (GRCm39) |
C294R |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,034 (GRCm39) |
F228S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
| Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
| Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
| Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
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 |
|
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'- TAAGCTCATTCTCCACTATAGAGC -3'
(R):5'- AGGTCATCACATGGCAGTGG -3'
Sequencing Primer
(F):5'- GCTCATTCTCCACTATAGAGCTAAAC -3'
(R):5'- GCAGTGGGCAATTTATCAAAGTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation