Mutagenetix > Incidental Mutation

Incidental Mutation 'R0180:Fermt3'

23883

Institutional Source

Beutler Lab

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) question?

Stock #

R0180 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

6976326-6996837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6979711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 474 (S474I)

Ref Sequence

ENSEMBL: ENSMUSP00000037858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000088223]

AlphaFold

Q8K1B8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040772
AA Change: S474I

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: S474I

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: ENSMUST00000088223

SMART Domains

Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656

Domain	Start	End	E-Value	Type
Pfam:PTS_2-RNA	21	198	2.6e-67	PFAM

Meta Mutation Damage Score

0.1314

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 89.5%

Validation Efficiency

77% (53/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	A	19: 21,630,003 (GRCm39)	N24Y	probably damaging	Het
2810408A11Rik	A	T	11: 69,789,702 (GRCm39)	M311K	probably benign	Het
Ackr2	T	C	9: 121,737,982 (GRCm39)	I119T	probably benign	Het
Adamtsl3	A	G	7: 82,225,198 (GRCm39)	M336V	probably benign	Het
Adhfe1	T	A	1: 9,634,082 (GRCm39)	F374I	probably benign	Het
Apob	C	T	12: 8,058,285 (GRCm39)	Q2256*	probably null	Het
Arg1	T	C	10: 24,792,728 (GRCm39)	I169V	probably benign	Het
Atxn1	A	G	13: 45,711,024 (GRCm39)	V636A	probably damaging	Het
B3gnt5	T	A	16: 19,587,850 (GRCm39)	I23K	possibly damaging	Het
Catsperg1	A	T	7: 28,889,856 (GRCm39)		probably null	Het
Celf3	T	A	3: 94,392,647 (GRCm39)	F115L	probably damaging	Het
Cep192	T	A	18: 67,968,559 (GRCm39)	H984Q	probably damaging	Het
Col18a1	A	G	10: 76,932,351 (GRCm39)	V493A	probably benign	Het
Col5a2	C	T	1: 45,450,620 (GRCm39)	G376S	probably damaging	Het
Colec12	A	G	18: 9,848,890 (GRCm39)	H356R	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cracr2a	T	C	6: 127,581,037 (GRCm39)		probably null	Het
Ctsr	T	C	13: 61,310,559 (GRCm39)	H62R	probably damaging	Het
Cyp4f40	G	T	17: 32,878,641 (GRCm39)	W61L	probably benign	Het
Dnah9	T	G	11: 66,038,116 (GRCm39)	H140P	probably damaging	Het
Dnai7	A	G	6: 145,128,944 (GRCm39)		probably benign	Het
Dnm1	T	G	2: 32,218,005 (GRCm39)	I464L	probably damaging	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
Efhc1	A	G	1: 21,037,713 (GRCm39)	M297V	probably benign	Het
Emcn	A	T	3: 137,124,755 (GRCm39)		probably null	Het
Ephb1	A	T	9: 101,804,703 (GRCm39)	M905K	probably damaging	Het
Fbxw10	A	G	11: 62,743,922 (GRCm39)	Y276C	probably benign	Het
Frg1	T	A	8: 41,852,105 (GRCm39)		probably null	Het
Gbf1	T	C	19: 46,274,161 (GRCm39)	S1732P	probably benign	Het
Gbp8	A	C	5: 105,179,142 (GRCm39)	L119R	probably damaging	Het
Gldc	C	T	19: 30,078,217 (GRCm39)	A927T	possibly damaging	Het
Gm8836	T	A	6: 70,237,389 (GRCm39)		probably benign	Het
Grhl3	C	T	4: 135,281,841 (GRCm39)	V344I	probably benign	Het
Hhipl1	T	A	12: 108,294,329 (GRCm39)	L745H	probably damaging	Het
Ido1	T	C	8: 25,083,156 (GRCm39)	I90V	possibly damaging	Het
Itpr2	T	A	6: 146,403,407 (GRCm39)		probably benign	Het
Kif1b	T	G	4: 149,298,116 (GRCm39)	S1029R	probably damaging	Het
Kmt2a	G	A	9: 44,738,148 (GRCm39)		probably benign	Het
Limk1	T	C	5: 134,698,115 (GRCm39)	N215D	probably damaging	Het
Lims2	A	G	18: 32,089,368 (GRCm39)	K144E	probably benign	Het
Mfsd6l	A	T	11: 68,447,371 (GRCm39)	Q74L	possibly damaging	Het
Mroh1	T	A	15: 76,312,450 (GRCm39)	S546T	probably damaging	Het
Ncbp3	T	A	11: 72,955,804 (GRCm39)		probably null	Het
Nlrx1	G	A	9: 44,166,756 (GRCm39)	H776Y	possibly damaging	Het
Nptxr	T	C	15: 79,678,604 (GRCm39)	M228V	probably benign	Het
Nsf	T	A	11: 103,821,606 (GRCm39)	L13F	probably damaging	Het
Nyap1	T	C	5: 137,736,283 (GRCm39)	E68G	probably damaging	Het
Or10p22	A	T	10: 128,826,703 (GRCm39)	R307S	possibly damaging	Het
Or51r1	A	G	7: 102,228,239 (GRCm39)	Y179C	probably damaging	Het
Pcdhb9	A	G	18: 37,535,307 (GRCm39)	N434D	probably damaging	Het
Pgm5	T	C	19: 24,793,127 (GRCm39)	D313G	probably damaging	Het
Pkdcc	G	A	17: 83,529,299 (GRCm39)		probably null	Het
Pkp1	T	C	1: 135,814,538 (GRCm39)	K261R	probably benign	Het
Pnpla6	A	G	8: 3,574,250 (GRCm39)		probably null	Het
Polr3b	A	G	10: 84,458,379 (GRCm39)	T17A	probably benign	Het
Ppt2	A	T	17: 34,845,477 (GRCm39)	M98K	probably damaging	Het
Rasal3	T	C	17: 32,618,379 (GRCm39)	D142G	probably benign	Het
Rbm17	G	A	2: 11,592,590 (GRCm39)	S295L	probably benign	Het
Rhbdf1	A	T	11: 32,160,042 (GRCm39)	V153D	possibly damaging	Het
Slc6a3	C	T	13: 73,710,455 (GRCm39)	T355M	probably damaging	Het
Snrnp35	A	T	5: 124,628,883 (GRCm39)		probably benign	Het
Sorcs2	A	T	5: 36,311,189 (GRCm39)	I37N	probably damaging	Het
Tecta	G	T	9: 42,278,109 (GRCm39)	P1133Q	probably benign	Het
Tmem145	A	G	7: 25,014,124 (GRCm39)	I413V	probably benign	Het
Trappc11	G	T	8: 47,981,009 (GRCm39)	T144K	possibly damaging	Het
Triml2	A	T	8: 43,643,346 (GRCm39)	I223L	probably benign	Het
Ube2g2	T	A	10: 77,466,573 (GRCm39)	N19K	possibly damaging	Het
Ubqln3	A	G	7: 103,791,047 (GRCm39)	Y348H	probably damaging	Het
Wfs1	A	G	5: 37,124,372 (GRCm39)	F840L	probably damaging	Het
Zc3h11a	T	C	1: 133,549,349 (GRCm39)	I771V	probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp106	T	G	2: 120,364,356 (GRCm39)	T684P	probably damaging	Het
Zfp217	A	T	2: 169,962,057 (GRCm39)	L90Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTAAGGAAGAGTGTGCTGTTGGAG -3'
(R):5'- AGATCTACCTGAGGTGCCAGGATG -3'

Sequencing Primer
(F):5'- TCCAGGGGTCAAGGGTG -3'
(R):5'- AGTAGGACTGAACTTGCACTC -3'

Posted On

2013-04-16