Incidental Mutation 'R6496:Pls1'
| ID |
523027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pls1
|
| Ensembl Gene |
ENSMUSG00000049493 |
| Gene Name |
plastin 1 (I-isoform) |
| Synonyms |
I-fimbrin |
| MMRRC Submission |
044628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
95634695-95727359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95636798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 558
(I558T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053785]
[ENSMUST00000093800]
[ENSMUST00000189137]
[ENSMUST00000190497]
[ENSMUST00000190604]
|
| AlphaFold |
Q3V0K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053785
|
| SMART Domains |
Protein: ENSMUSP00000057640
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
ANK
|
62 |
93 |
1.41e2 |
SMART |
|
ANK
|
99 |
129 |
2.11e1 |
SMART |
|
ANK
|
174 |
203 |
1.33e2 |
SMART |
|
Pfam:TRP_2
|
209 |
271 |
2.6e-27 |
PFAM |
|
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
407 |
673 |
5.9e-17 |
PFAM |
|
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093800
AA Change: I558T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091317
Gene: ENSMUSG00000049493
AA Change: I558T
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
15 |
43 |
8.5e-5 |
SMART |
|
EFh
|
55 |
83 |
1.73e-5 |
SMART |
|
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
|
CH
|
124 |
236 |
3.69e-23 |
SMART |
|
CH
|
268 |
375 |
4.4e-21 |
SMART |
|
CH
|
398 |
503 |
7.27e-22 |
SMART |
|
CH
|
519 |
624 |
3.75e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189137
|
| SMART Domains |
Protein: ENSMUSP00000139672
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
ANK
|
62 |
93 |
1.41e2 |
SMART |
|
ANK
|
99 |
129 |
2.11e1 |
SMART |
|
ANK
|
174 |
203 |
1.33e2 |
SMART |
|
Pfam:TRP_2
|
209 |
271 |
1.8e-29 |
PFAM |
|
transmembrane domain
|
367 |
386 |
N/A |
INTRINSIC |
|
transmembrane domain
|
407 |
424 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
441 |
661 |
1.2e-21 |
PFAM |
|
coiled coil region
|
770 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190205
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190497
|
| SMART Domains |
Protein: ENSMUSP00000140550
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190604
|
| SMART Domains |
Protein: ENSMUSP00000139577
Gene: ENSMUSG00000032839
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7913 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation for this gene leads to altered intestinal morphology and physiology, increased brush border fragility and susceptibility to induced colitis, as well as a moderate and progressive form of hearing loss associated with defects in stereocilia morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
| B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
| Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
| Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
| Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
| Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
| Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
| Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
| Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
| Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
| Kera |
T |
A |
10: 97,448,672 (GRCm39) |
N297K |
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
| Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
| Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
| Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
| Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
| Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
| Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
| Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly damaging |
Het |
|
| Other mutations in Pls1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Pls1
|
APN |
9 |
95,664,472 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00836:Pls1
|
APN |
9 |
95,643,475 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01391:Pls1
|
APN |
9 |
95,655,751 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02335:Pls1
|
APN |
9 |
95,666,236 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02875:Pls1
|
APN |
9 |
95,636,404 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03081:Pls1
|
APN |
9 |
95,655,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03271:Pls1
|
APN |
9 |
95,658,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4585001:Pls1
|
UTSW |
9 |
95,643,443 (GRCm39) |
missense |
probably benign |
|
|
R0048:Pls1
|
UTSW |
9 |
95,669,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0088:Pls1
|
UTSW |
9 |
95,677,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0409:Pls1
|
UTSW |
9 |
95,668,972 (GRCm39) |
splice site |
probably benign |
|
|
R2015:Pls1
|
UTSW |
9 |
95,643,418 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2516:Pls1
|
UTSW |
9 |
95,658,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2985:Pls1
|
UTSW |
9 |
95,667,635 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3964:Pls1
|
UTSW |
9 |
95,667,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3965:Pls1
|
UTSW |
9 |
95,667,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5240:Pls1
|
UTSW |
9 |
95,658,675 (GRCm39) |
splice site |
probably null |
|
|
R5681:Pls1
|
UTSW |
9 |
95,669,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Pls1
|
UTSW |
9 |
95,636,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6441:Pls1
|
UTSW |
9 |
95,636,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6498:Pls1
|
UTSW |
9 |
95,636,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6499:Pls1
|
UTSW |
9 |
95,636,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7016:Pls1
|
UTSW |
9 |
95,668,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Pls1
|
UTSW |
9 |
95,655,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7458:Pls1
|
UTSW |
9 |
95,667,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Pls1
|
UTSW |
9 |
95,651,166 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7536:Pls1
|
UTSW |
9 |
95,644,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Pls1
|
UTSW |
9 |
95,669,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7691:Pls1
|
UTSW |
9 |
95,655,726 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7756:Pls1
|
UTSW |
9 |
95,658,897 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7758:Pls1
|
UTSW |
9 |
95,658,897 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7876:Pls1
|
UTSW |
9 |
95,667,558 (GRCm39) |
nonsense |
probably null |
|
|
R8269:Pls1
|
UTSW |
9 |
95,644,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Pls1
|
UTSW |
9 |
95,657,438 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9182:Pls1
|
UTSW |
9 |
95,658,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Pls1
|
UTSW |
9 |
95,655,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9283:Pls1
|
UTSW |
9 |
95,655,642 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9604:Pls1
|
UTSW |
9 |
95,644,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pls1
|
UTSW |
9 |
95,667,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1177:Pls1
|
UTSW |
9 |
95,636,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGAGCAACTGAAATGGC -3'
(R):5'- TGTTGGTTGCAGAAAAGCTTAC -3'
Sequencing Primer
(F):5'- CCGAGCAACTGAAATGGCGTATC -3'
(R):5'- TGGTTGCAGAAAAGCTTACTATTAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation