Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Fermt3'

569402

Institutional Source

Beutler Lab

Gene Symbol

Fermt3

Ensembl Gene

ENSMUSG00000024965

Gene Name

fermitin family member 3

Synonyms

C79673, Kindlin-3

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6976326-6996837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6980406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 358 (I358V)

Ref Sequence

ENSEMBL: ENSMUSP00000037858 (fasta)

Gene Model

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

AlphaFold

Q8K1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000040772
AA Change: I358V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: I358V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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
Aadacl2fm3	T	A	3: 59,776,380 (GRCm39)	C184S	probably damaging	Het
Acadm	G	T	3: 153,644,698 (GRCm39)	S9*	probably null	Het
Acot10	C	T	15: 20,665,629 (GRCm39)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,568,903 (GRCm39)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,539,696 (GRCm39)	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,599,075 (GRCm39)	V162E	probably damaging	Het
Alms1	A	G	6: 85,618,432 (GRCm39)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,254,685 (GRCm39)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,079,007 (GRCm39)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,761,654 (GRCm39)	D34E	probably damaging	Het
Cacfd1	C	T	2: 26,905,558 (GRCm39)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,597,596 (GRCm39)	S345I	probably benign	Het
Cibar2	T	C	8: 120,901,589 (GRCm39)	T39A	probably damaging	Het
Clca3b	G	A	3: 144,542,417 (GRCm39)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,677,323 (GRCm39)	V251I	probably benign	Het
Dip2a	A	G	10: 76,110,080 (GRCm39)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,173,780 (GRCm39)	L27P	probably damaging	Het
Dock7	A	G	4: 98,864,180 (GRCm39)	V1288A	unknown	Het
Elmod1	A	T	9: 53,841,508 (GRCm39)		probably null	Het
Epb41l5	T	G	1: 119,551,679 (GRCm39)	K102T	probably damaging	Het
Frmd3	A	G	4: 74,079,955 (GRCm39)	I316V	probably benign	Het
Fryl	T	C	5: 73,204,839 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,702,356 (GRCm39)	H204L	possibly damaging	Het
Hmcn2	G	A	2: 31,325,806 (GRCm39)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,343,147 (GRCm39)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,737,108 (GRCm39)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,511 (GRCm39)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,293,235 (GRCm39)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,011,529 (GRCm39)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,356,809 (GRCm39)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,311,838 (GRCm39)	I524V	probably benign	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Myo7a	C	T	7: 97,728,573 (GRCm39)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,524 (GRCm39)	Y52F	probably damaging	Het
Nherf1	C	T	11: 115,054,593 (GRCm39)	A81V	possibly damaging	Het
Nomo1	T	C	7: 45,732,692 (GRCm39)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,620,090 (GRCm39)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,970 (GRCm39)	L363S	probably benign	Het
Or4n4	C	A	14: 50,519,036 (GRCm39)	V225F	probably benign	Het
Or8b12b	A	T	9: 37,684,293 (GRCm39)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,321,886 (GRCm39)	M300T	possibly damaging	Het
Parpbp	T	A	10: 87,947,617 (GRCm39)	N339I	probably damaging	Het
Pdlim5	A	T	3: 141,950,678 (GRCm39)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,657,532 (GRCm39)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,358,286 (GRCm39)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,549,681 (GRCm39)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 28,992,687 (GRCm39)	S130P	probably damaging	Het
Prss12	A	C	3: 123,280,780 (GRCm39)	L488F	probably benign	Het
Psd3	C	T	8: 68,361,357 (GRCm39)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,602,631 (GRCm39)	T364A	probably benign	Het
Shcbp1	A	T	8: 4,791,876 (GRCm39)	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,804,310 (GRCm39)	F200C	probably damaging	Het
Slx1b	G	T	7: 126,291,699 (GRCm39)	R122S	probably damaging	Het
Spata31f1e	G	A	4: 42,793,856 (GRCm39)	T92I	possibly damaging	Het
Spidr	A	G	16: 15,932,689 (GRCm39)		probably null	Het
St18	G	A	1: 6,872,783 (GRCm39)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,204,048 (GRCm39)	I46T	probably damaging	Het
Syne1	C	T	10: 5,007,886 (GRCm39)	D113N	probably damaging	Het
Tg	G	A	15: 66,597,121 (GRCm39)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,123,012 (GRCm39)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,553,283 (GRCm39)	R1120H	possibly damaging	Het
Tinag	A	T	9: 76,908,931 (GRCm39)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,200,510 (GRCm39)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,328,017 (GRCm39)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Txndc11	A	G	16: 10,946,425 (GRCm39)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,553,742 (GRCm39)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,603,753 (GRCm39)		probably null	Het
Vmn1r58	T	A	7: 5,414,066 (GRCm39)	M55L	probably benign	Het
Vnn1	T	A	10: 23,776,658 (GRCm39)	S336R	probably benign	Het
Wwc2	T	C	8: 48,322,829 (GRCm39)	Y424C	unknown	Het
Zfp507	T	C	7: 35,475,505 (GRCm39)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,150,681 (GRCm39)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,448,444 (GRCm39)	C371S	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
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
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'- TCATCTTGGCTCTTATAGTAGGAC -3'
(R):5'- AACAAACTGACCCTGAGCGG -3'

Sequencing Primer
(F):5'- GACAGTGTGGTGTCCTTAAATACCAC -3'
(R):5'- ACTGGATGACCTGGATGCAGC -3'

Posted On

2019-09-13