Incidental Mutation 'IGL03216:Fermt3'
| ID |
413495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fermt3
|
| Ensembl Gene |
ENSMUSG00000024965 |
| Gene Name |
fermitin family member 3 |
| Synonyms |
C79673, Kindlin-3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
6976326-6996837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6976748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 653
(D653E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040772]
[ENSMUST00000041686]
[ENSMUST00000088223]
[ENSMUST00000180765]
|
| AlphaFold |
Q8K1B8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040772
AA Change: D653E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: D653E
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
14 |
77 |
6e-32 |
BLAST |
|
B41
|
94 |
556 |
1.66e-28 |
SMART |
|
PH
|
350 |
455 |
2.26e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041686
|
| SMART Domains |
Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088223
|
| SMART Domains |
Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTS_2-RNA
|
21 |
198 |
2.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180765
|
| SMART Domains |
Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
PHENOTYPE: Disruption of this marker results in lethality in the first week after birth, abnormal erythropoiesis and platelet function, and severe hemorrhage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
| Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
| Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
| Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
| Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
| Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
| Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
| Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
| Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
probably damaging |
Het |
|
| Other mutations in Fermt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01160:Fermt3
|
APN |
19 |
6,980,626 (GRCm39) |
splice site |
probably null |
|
|
IGL01724:Fermt3
|
APN |
19 |
6,979,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01748:Fermt3
|
APN |
19 |
6,980,834 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02392:Fermt3
|
APN |
19 |
6,996,183 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02956:Fermt3
|
APN |
19 |
6,979,712 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03146:Fermt3
|
APN |
19 |
6,980,631 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Cholera
|
UTSW |
19 |
6,979,792 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Colombia
|
UTSW |
19 |
6,991,245 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
P0026:Fermt3
|
UTSW |
19 |
6,991,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0180:Fermt3
|
UTSW |
19 |
6,979,711 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0445:Fermt3
|
UTSW |
19 |
6,980,667 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1202:Fermt3
|
UTSW |
19 |
6,980,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1475:Fermt3
|
UTSW |
19 |
6,996,242 (GRCm39) |
splice site |
probably null |
|
|
R1668:Fermt3
|
UTSW |
19 |
6,996,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Fermt3
|
UTSW |
19 |
6,991,782 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2311:Fermt3
|
UTSW |
19 |
6,991,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3976:Fermt3
|
UTSW |
19 |
6,979,792 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4087:Fermt3
|
UTSW |
19 |
6,980,945 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4667:Fermt3
|
UTSW |
19 |
6,980,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Fermt3
|
UTSW |
19 |
6,991,782 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6452:Fermt3
|
UTSW |
19 |
6,992,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6994:Fermt3
|
UTSW |
19 |
6,977,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Fermt3
|
UTSW |
19 |
6,980,406 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7357:Fermt3
|
UTSW |
19 |
6,980,211 (GRCm39) |
missense |
probably benign |
|
|
R8804:Fermt3
|
UTSW |
19 |
6,991,694 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8854:Fermt3
|
UTSW |
19 |
6,991,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8883:Fermt3
|
UTSW |
19 |
6,980,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9126:Fermt3
|
UTSW |
19 |
6,979,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Fermt3
|
UTSW |
19 |
6,991,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Fermt3
|
UTSW |
19 |
6,991,245 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9296:Fermt3
|
UTSW |
19 |
6,980,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9347:Fermt3
|
UTSW |
19 |
6,980,664 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9595:Fermt3
|
UTSW |
19 |
6,979,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fermt3
|
UTSW |
19 |
6,992,047 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2016-08-02 |
Incidental Mutation