Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Fermt1'

404334

Institutional Source

Beutler Lab

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132746309-132787826 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 132753259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047616 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356

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

probably null
Transcript: ENSMUST00000038280

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356

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

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eapp	G	A	12: 54,739,703 (GRCm39)	P38L	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,405,345 (GRCm39)	I242F	possibly damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Sugp2	T	A	8: 70,694,827 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,593,842 (GRCm39)	I77M	probably benign	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,621,830 (GRCm39)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	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
R1917:Fermt1	UTSW	2	132,764,762 (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
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'- AATCGGAAGCTCTGCCTCAC -3'
(R):5'- GTGGCCTTTAAGAAACTGCATG -3'

Sequencing Primer
(F):5'- ACCTGCCGGATTTCCCAG -3'
(R):5'- CCTTTAAGAAACTGCATGTGGGGC -3'

Posted On

2016-07-22