Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Fermt1'

404404

Institutional Source

Beutler Lab

Gene Symbol

Fermt1

Ensembl Gene

ENSMUSG00000027356

Gene Name

fermitin family member 1

Synonyms

Kindlin-1, 5830467P10Rik

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5304 (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 132783986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 8 (T8S)

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: T8S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047616
Gene: ENSMUSG00000027356
AA Change: T8S

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: ENSMUST00000143981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144342

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

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
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zap70	A	T	1: 36,817,299 (GRCm39)	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	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
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
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'- TAACACAGAGGGGTTCAAACAC -3'
(R):5'- AGGTATCAGTAACCTTACAGAGTTC -3'

Sequencing Primer
(F):5'- GTTCAAACACAGAAAACCATGGTG -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'

Posted On

2016-07-22