Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Fermt1'

574149

Institutional Source

Beutler Lab

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132904389-132945906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132917559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 426 (V426L)

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: V426L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356
AA Change: V426L

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Fermt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02391:Fermt1	APN	2	132941951	missense	probably damaging	1.00
IGL02511:Fermt1	APN	2	132933166	splice site	probably benign
IGL02591:Fermt1	APN	2	132934866	missense	possibly damaging	0.89
IGL03107:Fermt1	APN	2	132933139	missense	probably damaging	1.00
R0691:Fermt1	UTSW	2	132906733	missense	probably damaging	0.99
R1386:Fermt1	UTSW	2	132916058	missense	probably damaging	0.99
R1468:Fermt1	UTSW	2	132925022	missense	probably benign	0.16
R1468:Fermt1	UTSW	2	132925022	missense	probably benign	0.16
R1474:Fermt1	UTSW	2	132925022	missense	probably benign	0.16
R1510:Fermt1	UTSW	2	132925022	missense	probably benign	0.16
R1558:Fermt1	UTSW	2	132934819	critical splice donor site	probably null
R1625:Fermt1	UTSW	2	132922831	missense	probably damaging	1.00
R1917:Fermt1	UTSW	2	132922842	missense	probably damaging	1.00
R2026:Fermt1	UTSW	2	132918525	missense	probably benign	0.11
R2264:Fermt1	UTSW	2	132915190	critical splice donor site	probably null
R2512:Fermt1	UTSW	2	132939518	splice site	probably null
R3765:Fermt1	UTSW	2	132906702	missense	possibly damaging	0.55
R4914:Fermt1	UTSW	2	132906840	missense	probably damaging	1.00
R5184:Fermt1	UTSW	2	132941963	missense	possibly damaging	0.50
R5259:Fermt1	UTSW	2	132906765	missense	probably damaging	0.99
R5303:Fermt1	UTSW	2	132911339	splice site	probably null
R5304:Fermt1	UTSW	2	132942066	missense	probably benign	0.00
R5404:Fermt1	UTSW	2	132934869	missense	possibly damaging	0.55
R5569:Fermt1	UTSW	2	132915203	missense	possibly damaging	0.89
R7146:Fermt1	UTSW	2	132934865	missense	probably benign	0.02
R7561:Fermt1	UTSW	2	132916088	missense	probably benign	0.02
R8518:Fermt1	UTSW	2	132906715	missense	probably benign	0.20
R8707:Fermt1	UTSW	2	132924961	missense	probably benign
R8896:Fermt1	UTSW	2	132941932	splice site	probably benign
R9502:Fermt1	UTSW	2	132939468	missense	probably benign	0.00
X0013:Fermt1	UTSW	2	132918586	missense	probably damaging	0.96
Z1176:Fermt1	UTSW	2	132906756	missense	probably damaging	1.00
Z1176:Fermt1	UTSW	2	132936018	missense	probably benign	0.42
Z1176:Fermt1	UTSW	2	132941943	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTGCTATTTATACAGTTCTATAGA -3'
(R):5'- CCATGCTGTTTATAAGCCTTGTT -3'

Sequencing Primer
(F):5'- CTATGTGAGTCCAGGGAATTGAACTC -3'
(R):5'- GCTGTTTATAAGCCTTGTTAGTCTTC -3'

Posted On

2019-09-13