Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Fermt1'

585096

Institutional Source

Beutler Lab

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132746309-132787826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132758008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 469 (I469N)

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
AA Change: I469N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356
AA Change: I469N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,236,028 (GRCm39)	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Asb4	A	T	6: 5,430,968 (GRCm39)	H401L	possibly damaging	Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,000,691 (GRCm39)	S537Y	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	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
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
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'- AGGCGAGAACCTGTTTAGAC -3'
(R):5'- CTCTAAGCATGTGCACCTCAC -3'

Sequencing Primer
(F):5'- CGAGAACCTGTTTAGACTTGTGC -3'
(R):5'- CCTTGACTAGAAGGTGATAGCTC -3'

Posted On

2019-10-17