Mutagenetix > Incidental Mutations

Incidental Mutation 'R7334:Fermt3'

569402

Institutional Source

Beutler Lab

Gene Symbol

Fermt3

Ensembl Gene

ENSMUSG00000024965

Gene Name

fermitin family member 3

Synonyms

Kindlin-3, C79673

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6998958-7019469 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7003038 bp

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]

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
Acadm	G	T	3: 153,939,061	S9*	probably null	Het
Acot10	C	T	15: 20,665,543	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224		probably null	Het
Epb41l5	T	G	1: 119,623,949	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850	T39A	probably damaging	Het
Frmd3	A	G	4: 74,161,718	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496		probably null	Het
Gm12394	G	A	4: 42,793,856	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959	C184S	probably damaging	Het
Hmcn2	A	G	2: 31,453,135	S4558G	possibly damaging	Het
Hmcn2	G	A	2: 31,435,794	G4278R	probably damaging	Het
Igkv1-132	A	G	6: 67,760,124	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982	T364A	probably benign	Het
Shcbp1	A	T	8: 4,741,876	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,754,310	F200C	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825		probably null	Het
St18	G	A	1: 6,802,559	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009		probably null	Het
Vmn1r58	T	A	7: 5,411,067	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019	C371S	probably damaging	Het

Other mutations in Fermt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Fermt3	APN	19	7003258	splice site	probably null
IGL01724:Fermt3	APN	19	7001775	missense	probably damaging	0.99
IGL01748:Fermt3	APN	19	7003466	critical splice donor site	probably null
IGL02392:Fermt3	APN	19	7018815	missense	probably benign	0.35
IGL02956:Fermt3	APN	19	7002344	missense	probably benign	0.40
IGL03146:Fermt3	APN	19	7003263	missense	possibly damaging	0.88
IGL03216:Fermt3	APN	19	6999380	missense	probably benign	0.00
P0026:Fermt3	UTSW	19	7014424	missense	probably damaging	0.99
R0180:Fermt3	UTSW	19	7002343	missense	possibly damaging	0.76
R0445:Fermt3	UTSW	19	7003299	missense	probably benign	0.29
R1202:Fermt3	UTSW	19	7003482	missense	probably damaging	1.00
R1475:Fermt3	UTSW	19	7018874	splice site	probably null
R1668:Fermt3	UTSW	19	7018692	missense	probably damaging	1.00
R2179:Fermt3	UTSW	19	7014414	missense	probably benign	0.14
R2311:Fermt3	UTSW	19	7014162	missense	probably damaging	0.97
R3976:Fermt3	UTSW	19	7002424	missense	possibly damaging	0.74
R4087:Fermt3	UTSW	19	7003577	critical splice acceptor site	probably null
R4667:Fermt3	UTSW	19	7002920	missense	probably damaging	1.00
R6108:Fermt3	UTSW	19	7014414	missense	probably benign	0.14
R6452:Fermt3	UTSW	19	7014737	missense	probably benign	0.00
R6994:Fermt3	UTSW	19	6999727	missense	probably damaging	1.00
R7357:Fermt3	UTSW	19	7002843	missense	probably benign
Z1177:Fermt3	UTSW	19	7014679	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