Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Fermt3'

519448

Institutional Source

Beutler Lab

Gene Symbol

Fermt3

Ensembl Gene

ENSMUSG00000024965

Gene Name

fermitin family member 3

Synonyms

C79673, Kindlin-3

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6452 (G1)

Quality Score

187.009

Status

Not validated

Chromosome

Chromosomal Location

6976326-6996837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6992105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 92 (F92I)

Ref Sequence

ENSEMBL: ENSMUSP00000037858 (fasta)

Gene Model

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

AlphaFold

Q8K1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000040772
AA Change: F92I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965
AA Change: F92I

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tlcd3a	G	T	11: 76,097,972 (GRCm39)	G60*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	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
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'- TTCCACATAGACATCTTGGGG -3'
(R):5'- TGGGACAGAGATAACACTTGGC -3'

Sequencing Primer
(F):5'- GCCCTTTGGTAAACTGGAGAC -3'
(R):5'- AGATAACACTTGGCAGGGC -3'

Posted On

2018-05-24