Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Fermt3'

237087

Institutional Source

Beutler Lab

Gene Symbol

Fermt3

Ensembl Gene

ENSMUSG00000024965

Gene Name

fermitin family member 3

Synonyms

C79673, Kindlin-3

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2179 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

6976326-6996837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6991782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 143 (R143L)

Ref Sequence

ENSEMBL: ENSMUSP00000037858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040772]

AlphaFold

Q8K1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000040772
AA Change: R143L

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: R143L

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTCTGAATAAAGTGGGTGC -3'
(R):5'- TCCTCAGTGAGTAGCTAGGG -3'

Sequencing Primer
(F):5'- TGCAGGGCAGGTGGGATC -3'
(R):5'- AGTGAGTAGCTAGGGCCCCTTC -3'

Posted On

2014-10-02