Incidental Mutation 'IGL02391:Fermt1'
| ID |
293842 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fermt1
|
| Ensembl Gene |
ENSMUSG00000027356 |
| Gene Name |
fermitin family member 1 |
| Synonyms |
Kindlin-1, 5830467P10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
132746309-132787826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132783871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 46
(L46P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038280]
|
| AlphaFold |
P59113 |
| PDB Structure |
Solution Structure of the N-terminal domain of kindlin-1 [SOLUTION NMR]
Structural and functional characterisation of the kindlin-1 pleckstrin homology domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038280
AA Change: L46P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356
AA Change: L46P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
10 |
74 |
2e-16 |
BLAST |
|
B41
|
91 |
570 |
1.39e-30 |
SMART |
|
PH
|
370 |
475 |
2.81e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134937
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144342
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality within 5 days of birth, dehydration, detachment of colonic epithelial cells, and colonic inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
| Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,747,785 (GRCm39) |
S74P |
probably benign |
Het |
| Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
| Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
| Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
| Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
| Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,675,428 (GRCm39) |
N129S |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
| Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
| Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
| Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
| Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,146,717 (GRCm39) |
S362T |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
| Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,080,578 (GRCm39) |
E951K |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
| Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
| Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
probably damaging |
Het |
|
| Other mutations in Fermt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02511:Fermt1
|
APN |
2 |
132,775,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL02591:Fermt1
|
APN |
2 |
132,776,786 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03107:Fermt1
|
APN |
2 |
132,775,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Fermt1
|
UTSW |
2 |
132,748,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1386:Fermt1
|
UTSW |
2 |
132,757,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Fermt1
|
UTSW |
2 |
132,766,942 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1468:Fermt1
|
UTSW |
2 |
132,766,942 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1474:Fermt1
|
UTSW |
2 |
132,766,942 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1510:Fermt1
|
UTSW |
2 |
132,766,942 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1558:Fermt1
|
UTSW |
2 |
132,776,739 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1625:Fermt1
|
UTSW |
2 |
132,764,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Fermt1
|
UTSW |
2 |
132,764,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Fermt1
|
UTSW |
2 |
132,760,445 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2264:Fermt1
|
UTSW |
2 |
132,757,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2512:Fermt1
|
UTSW |
2 |
132,781,438 (GRCm39) |
splice site |
probably null |
|
|
R3765:Fermt1
|
UTSW |
2 |
132,748,622 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4914:Fermt1
|
UTSW |
2 |
132,748,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Fermt1
|
UTSW |
2 |
132,783,883 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5259:Fermt1
|
UTSW |
2 |
132,748,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5303:Fermt1
|
UTSW |
2 |
132,753,259 (GRCm39) |
splice site |
probably null |
|
|
R5304:Fermt1
|
UTSW |
2 |
132,783,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5404:Fermt1
|
UTSW |
2 |
132,776,789 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5569:Fermt1
|
UTSW |
2 |
132,757,123 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7146:Fermt1
|
UTSW |
2 |
132,776,785 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7401:Fermt1
|
UTSW |
2 |
132,759,479 (GRCm39) |
missense |
probably benign |
|
|
R7561:Fermt1
|
UTSW |
2 |
132,758,008 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8518:Fermt1
|
UTSW |
2 |
132,748,635 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8707:Fermt1
|
UTSW |
2 |
132,766,881 (GRCm39) |
missense |
probably benign |
|
|
R8896:Fermt1
|
UTSW |
2 |
132,783,852 (GRCm39) |
splice site |
probably benign |
|
|
R9502:Fermt1
|
UTSW |
2 |
132,781,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0013:Fermt1
|
UTSW |
2 |
132,760,506 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Fermt1
|
UTSW |
2 |
132,783,863 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Fermt1
|
UTSW |
2 |
132,777,938 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1176:Fermt1
|
UTSW |
2 |
132,748,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation