Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02511:Fermt1'

296569

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02511

Quality Score

Status

Chromosome

Chromosomal Location

132746309-132787826 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 132775086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144342

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,692,111 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,185,192 (GRCm39)	D502V	probably damaging	Het
Adss2	T	C	1: 177,598,700 (GRCm39)		probably benign	Het
Ankrd36	T	A	11: 5,610,845 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,873,615 (GRCm39)	S692P	probably benign	Het
Cap2	T	C	13: 46,684,498 (GRCm39)	M1T	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn1	A	T	15: 92,114,266 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,835,757 (GRCm39)	F218Y	probably benign	Het
Dll4	G	A	2: 119,156,947 (GRCm39)	G73E	probably damaging	Het
Dzip3	T	C	16: 48,757,343 (GRCm39)	M897V	possibly damaging	Het
Ehbp1	T	C	11: 22,039,653 (GRCm39)	R816G	probably damaging	Het
Enoph1	T	C	5: 100,208,894 (GRCm39)	L83P	probably benign	Het
Enpep	A	G	3: 129,115,059 (GRCm39)	S238P	probably damaging	Het
Gm6619	T	A	6: 131,467,330 (GRCm39)	I65K	possibly damaging	Het
Krtap31-2	T	A	11: 99,827,518 (GRCm39)	C117S	possibly damaging	Het
Ksr1	T	C	11: 78,936,046 (GRCm39)	D106G	possibly damaging	Het
Lgr4	A	T	2: 109,841,617 (GRCm39)	Y534F	probably benign	Het
Mamdc2	T	C	19: 23,356,095 (GRCm39)	T118A	probably benign	Het
Myo10	T	A	15: 25,723,975 (GRCm39)	I170N	probably damaging	Het
Myom2	T	C	8: 15,115,743 (GRCm39)	S53P	probably benign	Het
Npl	T	A	1: 153,391,227 (GRCm39)	D176V	probably damaging	Het
Nrm	T	C	17: 36,172,316 (GRCm39)	S14P	probably damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5p70	T	A	7: 107,995,265 (GRCm39)	F313I	probably benign	Het
Or5v1b	A	G	17: 37,840,870 (GRCm39)	M1V	probably null	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Pard3	A	T	8: 127,888,070 (GRCm39)		probably benign	Het
Pdzd4	T	A	X: 72,838,206 (GRCm39)	M701L	probably damaging	Het
Pkhd1	A	T	1: 20,143,731 (GRCm39)	V3865E	possibly damaging	Het
Plxna3	C	A	X: 73,378,991 (GRCm39)	Q712K	probably damaging	Het
Pon1	A	G	6: 5,193,724 (GRCm39)	L9P	probably damaging	Het
Pygm	A	T	19: 6,435,718 (GRCm39)	I83F	probably benign	Het
Scyl2	A	G	10: 89,476,681 (GRCm39)	S815P	probably benign	Het
Serpina1a	C	T	12: 103,822,226 (GRCm39)	W212*	probably null	Het
Slc38a9	C	A	13: 112,834,541 (GRCm39)	D239E	possibly damaging	Het
Smad6	A	G	9: 63,860,859 (GRCm39)	F479L	probably damaging	Het
Smarcc2	T	C	10: 128,297,251 (GRCm39)	S48P	probably damaging	Het
Ttn	T	A	2: 76,768,034 (GRCm39)	M3022L	unknown	Het
Tulp1	C	A	17: 28,575,142 (GRCm39)	R441L	probably benign	Het
Ugt1a10	T	C	1: 87,983,585 (GRCm39)	F128L	probably damaging	Het
Ulk4	A	G	9: 121,017,420 (GRCm39)	V686A	probably damaging	Het
Ush2a	T	C	1: 188,475,884 (GRCm39)		probably null	Het
Ushbp1	T	C	8: 71,843,581 (GRCm39)	M286V	probably null	Het
Usp51	T	G	X: 151,791,726 (GRCm39)	I440R	probably damaging	Het
Wee1	G	T	7: 109,738,483 (GRCm39)	R532L	possibly damaging	Het
Zfhx4	A	G	3: 5,464,243 (GRCm39)	E1467G	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp551	A	G	7: 12,150,602 (GRCm39)	V269A	possibly 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
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
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

Posted On

2015-04-16