Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Fermt3'

571061

Institutional Source

Beutler Lab

Gene Symbol

Fermt3

Ensembl Gene

ENSMUSG00000024965

Gene Name

fermitin family member 3

Synonyms

C79673, Kindlin-3

MMRRC Submission

045443-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7357 (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 6980211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 395 (T395A)

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: T395A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: T395A

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: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	T	2: 155,845,787 (GRCm39)	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,297,821 (GRCm39)	K233I	probably damaging	Het
Aldh1l2	T	C	10: 83,350,408 (GRCm39)	M320V	possibly damaging	Het
C2cd3	A	G	7: 100,079,310 (GRCm39)	N838S		Het
Cacna1s	T	C	1: 135,998,759 (GRCm39)	F218S	probably damaging	Het
Carmil3	G	T	14: 55,728,590 (GRCm39)		probably benign	Het
Cd300a	A	T	11: 114,784,153 (GRCm39)	T54S	probably benign	Het
Celf3	G	A	3: 94,387,637 (GRCm39)	E70K	probably damaging	Het
Celsr1	A	C	15: 85,914,715 (GRCm39)	M1086R	probably benign	Het
Ces2f	G	A	8: 105,676,595 (GRCm39)	M96I	probably benign	Het
Chrdl2	G	A	7: 99,678,414 (GRCm39)	V329I	probably benign	Het
Ctc1	T	A	11: 68,925,568 (GRCm39)	L1035Q	probably benign	Het
Dbi	A	G	1: 120,047,623 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,882,568 (GRCm39)	I405T	probably benign	Het
Dpp4	A	T	2: 62,217,421 (GRCm39)	W59R	probably benign	Het
Dsg3	T	A	18: 20,672,840 (GRCm39)	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,387,308 (GRCm39)	V229A	probably benign	Het
Focad	A	T	4: 88,147,572 (GRCm39)	I404F	probably benign	Het
Gm8104	T	C	14: 42,959,068 (GRCm39)	I86T	probably damaging	Het
Gm9857	A	C	3: 108,847,478 (GRCm39)	L95R	unknown	Het
Hoxa1	A	T	6: 52,133,929 (GRCm39)	S266T	probably benign	Het
Kif19b	A	G	5: 140,480,806 (GRCm39)	R979G	possibly damaging	Het
Leng8	T	A	7: 4,147,932 (GRCm39)	Y625*	probably null	Het
Mast3	A	G	8: 71,237,503 (GRCm39)	V557A	probably damaging	Het
Morc1	T	C	16: 48,442,953 (GRCm39)	F813L	probably benign	Het
Ntf3	T	A	6: 126,078,961 (GRCm39)	I182F	probably damaging	Het
Nup153	G	T	13: 46,870,642 (GRCm39)	A91E	probably benign	Het
Or13l2	G	C	3: 97,317,971 (GRCm39)	N175K	probably damaging	Het
Or52h1	A	T	7: 103,828,978 (GRCm39)	D212E	probably damaging	Het
Pamr1	G	A	2: 102,417,049 (GRCm39)	W120*	probably null	Het
Pcsk1	A	G	13: 75,274,079 (GRCm39)	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,622,857 (GRCm39)	K1451E	probably benign	Het
Pebp4	G	A	14: 70,285,864 (GRCm39)	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,247,138 (GRCm39)	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,610,791 (GRCm39)		probably null	Het
Ppic	T	C	18: 53,544,139 (GRCm39)	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,686,941 (GRCm39)	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 94,895,424 (GRCm39)	V704A	probably benign	Het
Pramel6	G	T	2: 87,340,856 (GRCm39)	R396L	not run	Het
Prss48	A	T	3: 85,904,528 (GRCm39)	D223E	probably damaging	Het
Psd3	T	C	8: 68,574,149 (GRCm39)	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,169,608 (GRCm39)	K780E	probably damaging	Het
Retreg1	A	T	15: 25,972,029 (GRCm39)	D323V	probably damaging	Het
Samd11	A	T	4: 156,340,067 (GRCm39)		probably null	Het
Sec14l3	T	A	11: 4,020,127 (GRCm39)	F188Y	probably benign	Het
Serpina5	A	T	12: 104,069,639 (GRCm39)	T284S	possibly damaging	Het
Setx	A	G	2: 29,020,313 (GRCm39)	D100G	probably benign	Het
Sis	A	T	3: 72,832,404 (GRCm39)	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,113,930 (GRCm39)	I456V	probably benign	Het
Snx14	A	T	9: 88,286,369 (GRCm39)	C393S	possibly damaging	Het
Stil	T	C	4: 114,871,423 (GRCm39)		probably null	Het
Sult6b1	A	G	17: 79,202,059 (GRCm39)	S148P	probably damaging	Het
Sycp2	G	T	2: 178,045,597 (GRCm39)		probably null	Het
Tesmin	T	C	19: 3,447,042 (GRCm39)	I273T	probably benign	Het
Tmem39a	T	A	16: 38,406,592 (GRCm39)	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,041,781 (GRCm39)	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,349,687 (GRCm39)	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,840,810 (GRCm39)		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,840,811 (GRCm39)		probably benign	Het
Usp18	T	C	6: 121,230,808 (GRCm39)	I79T	possibly damaging	Het
Usp9y	A	T	Y: 1,333,656 (GRCm39)	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,536 (GRCm39)	V607E	probably damaging	Het
Vwa8	G	A	14: 79,275,641 (GRCm39)	R808K	probably null	Het
Zfp248	A	G	6: 118,406,618 (GRCm39)	Y324H	probably damaging	Het
Zfp513	G	A	5: 31,357,132 (GRCm39)	P387S	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
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
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'- ACTTCTGGCCAGAGACATTGAC -3'
(R):5'- TTCCGGTTAAGTATAGGGCCTG -3'

Sequencing Primer
(F):5'- TTCTGGCCAGAGACATTGACATCAG -3'
(R):5'- AAGTATAGGGCCTGCCTGG -3'

Posted On

2019-09-13