Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Fermt1'

212586

Institutional Source

Beutler Lab

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132746309-132787826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132764762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 365 (D365V)

Ref Sequence

ENSEMBL: ENSMUSP00000047616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038280]

AlphaFold

P59113

PDB Structure

Solution Structure of the N-terminal domain of kindlin-1 [SOLUTION NMR]
Structural and functional characterisation of the kindlin-1 pleckstrin homology domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038280
AA Change: D365V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356
AA Change: D365V

Domain	Start	End	E-Value	Type
Blast:B41	10	74	2e-16	BLAST
B41	91	570	1.39e-30	SMART
PH	370	475	2.81e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134937

Meta Mutation Damage Score

0.5668

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality within 5 days of birth, dehydration, detachment of colonic epithelial cells, and colonic inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,341 (GRCm39)		probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Akap6	A	G	12: 53,151,395 (GRCm39)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,704,819 (GRCm39)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,631,176 (GRCm39)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,506,891 (GRCm39)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,863,564 (GRCm39)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,826,594 (GRCm39)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,592,432 (GRCm39)	V55A	probably damaging	Het
Coq4	A	C	2: 29,679,938 (GRCm39)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,228,211 (GRCm39)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,110,918 (GRCm39)	Y86*	probably null	Het
Ddx56	A	G	11: 6,213,937 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,513,150 (GRCm39)	S30P	probably damaging	Het
Ep400	T	C	5: 110,851,441 (GRCm39)	K1347R	unknown	Het
Fat3	T	A	9: 15,908,353 (GRCm39)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,755,095 (GRCm39)	C5*	probably null	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fhod3	A	G	18: 25,123,022 (GRCm39)		probably benign	Het
Fhod3	A	G	18: 25,218,658 (GRCm39)	D807G	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gart	T	C	16: 91,425,037 (GRCm39)	Y662C	probably damaging	Het
Gda	A	T	19: 21,375,004 (GRCm39)		probably benign	Het
Gk	A	G	X: 84,804,186 (GRCm39)	I85T	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,607,684 (GRCm39)	C2R	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,364,980 (GRCm39)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,059,799 (GRCm39)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,619,342 (GRCm39)	I201T	probably benign	Het
Jade2	T	C	11: 51,709,365 (GRCm39)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,239,524 (GRCm39)	I241T	probably benign	Het
Keap1	G	T	9: 21,145,102 (GRCm39)	Q299K	probably benign	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,571,808 (GRCm39)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,827,564 (GRCm39)	E29*	probably null	Het
Mat1a	G	A	14: 40,843,394 (GRCm39)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,868,785 (GRCm39)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,341,871 (GRCm39)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,428,073 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,307,349 (GRCm39)	T231A	probably benign	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Myo15b	T	A	11: 115,773,080 (GRCm39)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,296,733 (GRCm39)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Pak3	C	A	X: 142,574,298 (GRCm39)	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,417,079 (GRCm39)	T122S	possibly damaging	Het
Pira12	C	T	7: 3,900,637 (GRCm39)	V38M	probably damaging	Het
Plod2	A	G	9: 92,463,310 (GRCm39)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,039 (GRCm39)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Recql4	A	T	15: 76,588,037 (GRCm39)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,978,561 (GRCm39)	V859A	probably benign	Het
Scnm1	G	T	3: 95,037,584 (GRCm39)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,301,833 (GRCm39)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 80,819,334 (GRCm39)	F641L	probably benign	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spata31	T	C	13: 65,068,679 (GRCm39)	Y276H	possibly damaging	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,404,609 (GRCm39)	F282S	probably damaging	Het
Syk	A	T	13: 52,776,744 (GRCm39)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,888,364 (GRCm39)		probably benign	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tll2	T	A	19: 41,116,936 (GRCm39)	D293V	possibly damaging	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp19	T	A	9: 108,376,524 (GRCm39)	C689*	probably null	Het
Usp24	T	G	4: 106,267,483 (GRCm39)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,060,891 (GRCm39)	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,543,081 (GRCm39)	D176N	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zfhx3	T	C	8: 109,682,880 (GRCm39)	S3440P	unknown	Het
Zfp52	T	G	17: 21,780,426 (GRCm39)	N91K	probably benign	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,452,115 (GRCm39)	S562P	probably damaging	Het

Other mutations in Fermt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Fermt1	APN	2	132,783,871 (GRCm39)	missense	probably damaging	1.00
IGL02511:Fermt1	APN	2	132,775,086 (GRCm39)	splice site	probably benign
IGL02591:Fermt1	APN	2	132,776,786 (GRCm39)	missense	possibly damaging	0.89
IGL03107:Fermt1	APN	2	132,775,059 (GRCm39)	missense	probably damaging	1.00
R0691:Fermt1	UTSW	2	132,748,653 (GRCm39)	missense	probably damaging	0.99
R1386:Fermt1	UTSW	2	132,757,978 (GRCm39)	missense	probably damaging	0.99
R1468:Fermt1	UTSW	2	132,766,942 (GRCm39)	missense	probably benign	0.16
R1468:Fermt1	UTSW	2	132,766,942 (GRCm39)	missense	probably benign	0.16
R1474:Fermt1	UTSW	2	132,766,942 (GRCm39)	missense	probably benign	0.16
R1510:Fermt1	UTSW	2	132,766,942 (GRCm39)	missense	probably benign	0.16
R1558:Fermt1	UTSW	2	132,776,739 (GRCm39)	critical splice donor site	probably null
R1625:Fermt1	UTSW	2	132,764,751 (GRCm39)	missense	probably damaging	1.00
R2026:Fermt1	UTSW	2	132,760,445 (GRCm39)	missense	probably benign	0.11
R2264:Fermt1	UTSW	2	132,757,110 (GRCm39)	critical splice donor site	probably null
R2512:Fermt1	UTSW	2	132,781,438 (GRCm39)	splice site	probably null
R3765:Fermt1	UTSW	2	132,748,622 (GRCm39)	missense	possibly damaging	0.55
R4914:Fermt1	UTSW	2	132,748,760 (GRCm39)	missense	probably damaging	1.00
R5184:Fermt1	UTSW	2	132,783,883 (GRCm39)	missense	possibly damaging	0.50
R5259:Fermt1	UTSW	2	132,748,685 (GRCm39)	missense	probably damaging	0.99
R5303:Fermt1	UTSW	2	132,753,259 (GRCm39)	splice site	probably null
R5304:Fermt1	UTSW	2	132,783,986 (GRCm39)	missense	probably benign	0.00
R5404:Fermt1	UTSW	2	132,776,789 (GRCm39)	missense	possibly damaging	0.55
R5569:Fermt1	UTSW	2	132,757,123 (GRCm39)	missense	possibly damaging	0.89
R7146:Fermt1	UTSW	2	132,776,785 (GRCm39)	missense	probably benign	0.02
R7401:Fermt1	UTSW	2	132,759,479 (GRCm39)	missense	probably benign
R7561:Fermt1	UTSW	2	132,758,008 (GRCm39)	missense	probably benign	0.02
R8518:Fermt1	UTSW	2	132,748,635 (GRCm39)	missense	probably benign	0.20
R8707:Fermt1	UTSW	2	132,766,881 (GRCm39)	missense	probably benign
R8896:Fermt1	UTSW	2	132,783,852 (GRCm39)	splice site	probably benign
R9502:Fermt1	UTSW	2	132,781,388 (GRCm39)	missense	probably benign	0.00
X0013:Fermt1	UTSW	2	132,760,506 (GRCm39)	missense	probably damaging	0.96
Z1176:Fermt1	UTSW	2	132,783,863 (GRCm39)	missense	probably benign
Z1176:Fermt1	UTSW	2	132,777,938 (GRCm39)	missense	probably benign	0.42
Z1176:Fermt1	UTSW	2	132,748,676 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGTTCACTCCTGCTGAC -3'
(R):5'- TGGGAAACAGGACTTTGTCAC -3'

Sequencing Primer
(F):5'- ACCTACTATTGTCTTAGGCCAAAGC -3'
(R):5'- CCCCAACAATAACTACTGTGGTTTG -3'

Posted On

2014-07-14