Incidental Mutation 'R9609:Mlip'
| ID |
724098 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R9609 (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 77045797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 894
(L894F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138864
(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 |
possibly damaging
Transcript: ENSMUST00000183955
AA Change: L894F
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138864
Gene: ENSMUSG00000032355
AA Change: L894F
| 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 damaging
Transcript: ENSMUST00000184415
AA Change: L387F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139251
Gene: ENSMUSG00000032355
AA Change: L387F
| 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: 99.9%
- 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,208,549 (GRCm39) |
S241P |
probably damaging |
Het |
| Adam23 |
A |
T |
1: 63,576,102 (GRCm39) |
M295L |
probably benign |
Het |
| Ano8 |
T |
A |
8: 71,933,726 (GRCm39) |
D522V |
unknown |
Het |
| Asgr2 |
T |
C |
11: 69,988,667 (GRCm39) |
L120P |
probably damaging |
Het |
| Atp5mc2 |
A |
G |
15: 102,573,580 (GRCm39) |
F79L |
probably damaging |
Het |
| Baiap2 |
C |
T |
11: 119,847,958 (GRCm39) |
R29C |
probably damaging |
Het |
| Bicdl2 |
A |
G |
17: 23,884,513 (GRCm39) |
E145G |
|
Het |
| Cad |
T |
C |
5: 31,228,018 (GRCm39) |
|
probably null |
Het |
| Dhrs7b |
A |
G |
11: 60,735,121 (GRCm39) |
R51G |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,670,236 (GRCm39) |
Y694N |
probably damaging |
Het |
| Dnaja4 |
G |
A |
9: 54,616,644 (GRCm39) |
G216S |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,607,362 (GRCm39) |
V2651A |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,167,515 (GRCm39) |
T81A |
probably benign |
Het |
| Fga |
A |
T |
3: 82,940,064 (GRCm39) |
I573F |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,879,674 (GRCm39) |
I176N |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,214,653 (GRCm39) |
C41* |
probably null |
Het |
| Fibcd1 |
A |
G |
2: 31,728,653 (GRCm39) |
V68A |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,286 (GRCm39) |
D328G |
probably benign |
Het |
| Gtpbp10 |
A |
C |
5: 5,607,396 (GRCm39) |
F15C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,555,346 (GRCm39) |
V2475D |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,060,221 (GRCm39) |
S36P |
probably damaging |
Het |
| Igsf10 |
G |
T |
3: 59,226,869 (GRCm39) |
T2268N |
probably damaging |
Het |
| Krt75 |
A |
G |
15: 101,474,677 (GRCm39) |
I473T |
probably benign |
Het |
| Lcn3 |
A |
G |
2: 25,657,596 (GRCm39) |
E162G |
possibly damaging |
Het |
| Lnpk |
A |
G |
2: 74,401,298 (GRCm39) |
V17A |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,577,234 (GRCm39) |
T175S |
|
Het |
| Nkpd1 |
A |
C |
7: 19,257,462 (GRCm39) |
I414L |
possibly damaging |
Het |
| Nrxn2 |
C |
A |
19: 6,540,203 (GRCm39) |
N834K |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,843,599 (GRCm39) |
T99A |
probably benign |
Het |
| Patj |
T |
G |
4: 98,576,473 (GRCm39) |
F570L |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,443 (GRCm39) |
T107A |
|
Het |
| Ppp1r12b |
G |
A |
1: 134,824,084 (GRCm39) |
Q180* |
probably null |
Het |
| Prpf4b |
A |
G |
13: 35,068,032 (GRCm39) |
D287G |
unknown |
Het |
| Rab17 |
T |
C |
1: 90,891,907 (GRCm39) |
Y39C |
probably damaging |
Het |
| Rbsn |
T |
A |
6: 92,179,565 (GRCm39) |
I125F |
probably damaging |
Het |
| Rnf207 |
C |
A |
4: 152,402,222 (GRCm39) |
G74C |
probably damaging |
Het |
| Rrs1 |
T |
C |
1: 9,616,518 (GRCm39) |
L257P |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,683,848 (GRCm39) |
E3072G |
probably damaging |
Het |
| Scn8a |
A |
C |
15: 100,834,407 (GRCm39) |
I68L |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,532,636 (GRCm39) |
I413F |
probably damaging |
Het |
| Slc4a11 |
T |
A |
2: 130,530,035 (GRCm39) |
T248S |
possibly damaging |
Het |
| Spen |
A |
G |
4: 141,215,419 (GRCm39) |
I471T |
unknown |
Het |
| Tbpl2 |
C |
T |
2: 23,977,197 (GRCm39) |
D274N |
probably damaging |
Het |
| Timm23 |
A |
G |
14: 31,902,543 (GRCm39) |
M200T |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,850,117 (GRCm39) |
I851V |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,208 (GRCm39) |
V298E |
possibly damaging |
Het |
| Trav6-3 |
A |
G |
14: 53,667,618 (GRCm39) |
N41S |
possibly damaging |
Het |
| Trim17 |
C |
A |
11: 58,855,964 (GRCm39) |
A7D |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,758,148 (GRCm39) |
T829A |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,361,905 (GRCm39) |
E227A |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,320,839 (GRCm39) |
T62I |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,743,732 (GRCm39) |
L465P |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,841,831 (GRCm39) |
Q1951L |
probably damaging |
Het |
| Wdcp |
A |
G |
12: 4,900,258 (GRCm39) |
D38G |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,150,751 (GRCm39) |
V23D |
unknown |
Het |
| Zkscan8 |
C |
A |
13: 21,709,434 (GRCm39) |
V155F |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTAAAGTTTCATAGCAAAGAGC -3'
(R):5'- TGTTTTGCTTGCAGAAAAGGC -3'
Sequencing Primer
(F):5'- GCAAAGAGCAATTCTCATTTTAGC -3'
(R):5'- TTTTGCTTGCAGAAAAGGCTGAAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation