Incidental Mutation 'R2311:Fermt3'
| ID |
245362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fermt3
|
| Ensembl Gene |
ENSMUSG00000024965 |
| Gene Name |
fermitin family member 3 |
| Synonyms |
C79673, Kindlin-3 |
| MMRRC Submission |
040310-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6976326-6996837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6991530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 194
(C194F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040772]
|
| AlphaFold |
Q8K1B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040772
AA Change: C194F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: C194F
| 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 |
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
G |
A |
15: 77,602,236 (GRCm39) |
R278H |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,578,111 (GRCm39) |
S946P |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,462,689 (GRCm39) |
R110* |
probably null |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,160,368 (GRCm39) |
I1757N |
possibly damaging |
Het |
| Dthd1 |
T |
C |
5: 62,996,580 (GRCm39) |
|
probably benign |
Het |
| Eif5a2 |
A |
G |
3: 28,836,325 (GRCm39) |
E42G |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,121,639 (GRCm39) |
S61G |
probably benign |
Het |
| Elp4 |
T |
C |
2: 105,672,677 (GRCm39) |
N136S |
probably benign |
Het |
| Elp6 |
A |
G |
9: 110,149,886 (GRCm39) |
S223G |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,503,675 (GRCm39) |
D743E |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,535,194 (GRCm39) |
Q85R |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,200,260 (GRCm39) |
|
probably benign |
Het |
| Gfi1b |
C |
T |
2: 28,500,186 (GRCm39) |
G282R |
probably damaging |
Het |
| Gpr176 |
A |
T |
2: 118,109,927 (GRCm39) |
I444K |
probably benign |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,797 (GRCm39) |
K153E |
probably damaging |
Het |
| Gys2 |
A |
T |
6: 142,408,970 (GRCm39) |
M95K |
possibly damaging |
Het |
| Hgs |
C |
T |
11: 120,370,474 (GRCm39) |
R167W |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,198,784 (GRCm39) |
I130T |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,456,489 (GRCm39) |
Y25N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,335,240 (GRCm39) |
V629I |
probably benign |
Het |
| Nrl |
C |
A |
14: 55,759,909 (GRCm39) |
S6I |
probably damaging |
Het |
| Or10am5 |
A |
T |
7: 6,517,741 (GRCm39) |
M229K |
probably benign |
Het |
| Or4c29 |
T |
A |
2: 88,739,813 (GRCm39) |
D308V |
probably benign |
Het |
| Or5d37 |
T |
C |
2: 87,924,178 (GRCm39) |
N34S |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,211 (GRCm39) |
F377S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,427,162 (GRCm39) |
S91P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,292,644 (GRCm39) |
Y737F |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,388 (GRCm39) |
I94F |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,788,265 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,013 (GRCm39) |
R816G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,071,024 (GRCm39) |
N2092D |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,748 (GRCm39) |
V171A |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,533,934 (GRCm39) |
V163M |
probably benign |
Het |
| Trim59 |
G |
T |
3: 68,945,162 (GRCm39) |
C59* |
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vill |
A |
G |
9: 118,894,965 (GRCm39) |
N61S |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,991,834 (GRCm39) |
R662H |
probably damaging |
Het |
| Zfp644 |
A |
C |
5: 106,782,822 (GRCm39) |
V1184G |
probably benign |
Het |
| Zfp974 |
A |
G |
7: 27,609,866 (GRCm39) |
S620P |
possibly 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 |
|
IGL03216:Fermt3
|
APN |
19 |
6,976,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATGAATCCAGCCACCTG -3'
(R):5'- AAAGGTTGTCTTAGCTGGCG -3'
Sequencing Primer
(F):5'- ACCTGGGTTTGGCAGAAGC -3'
(R):5'- TGGCGGTGAGTGAGCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation