Incidental Mutation 'R2264:Fermt1'
ID 243973
Institutional Source Beutler Lab
Gene Symbol Fermt1
Ensembl Gene ENSMUSG00000027356
Gene Name fermitin family member 1
Synonyms Kindlin-1, 5830467P10Rik
MMRRC Submission 040264-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2264 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 132746309-132787826 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 132757110 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.9495 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 94% (65/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,100 (GRCm39) S1042P probably damaging Het
Armc1 C T 3: 19,189,033 (GRCm39) V211I probably damaging Het
B4galnt3 T C 6: 120,180,771 (GRCm39) *986W probably null Het
BC024139 T A 15: 76,010,117 (GRCm39) D105V probably damaging Het
BC049715 C T 6: 136,817,434 (GRCm39) Q225* probably null Het
Cadps2 T C 6: 23,323,339 (GRCm39) H1043R probably benign Het
Ccdc42 T C 11: 68,478,477 (GRCm39) V33A probably benign Het
Cldn1 A G 16: 26,177,949 (GRCm39) Y159H probably damaging Het
Cog6 A T 3: 52,900,332 (GRCm39) C476* probably null Het
Col14a1 T G 15: 55,330,086 (GRCm39) probably null Het
Crisp1 C T 17: 40,623,965 (GRCm39) M1I probably null Het
Dip2b T A 15: 100,101,097 (GRCm39) S1297T probably benign Het
Dlgap4 A G 2: 156,543,383 (GRCm39) E262G probably benign Het
Dnai7 A G 6: 145,154,155 (GRCm39) probably benign Het
Dpp4 A C 2: 62,208,583 (GRCm39) V187G possibly damaging Het
F5 A G 1: 164,021,971 (GRCm39) D1482G probably benign Het
Fads6 T A 11: 115,177,061 (GRCm39) T132S probably damaging Het
Fat4 A G 3: 38,944,571 (GRCm39) I1155V probably benign Het
Fstl1 C T 16: 37,597,653 (GRCm39) probably benign Het
Get3 G A 8: 85,751,887 (GRCm39) probably benign Het
Gm5089 T C 14: 122,673,514 (GRCm39) Y69C unknown Het
Gm9871 T C 6: 101,773,201 (GRCm39) noncoding transcript Het
Gpr89 A G 3: 96,779,831 (GRCm39) S375P probably damaging Het
Gtf2h4 A G 17: 35,979,556 (GRCm39) probably benign Het
Gtsf1 T A 15: 103,328,391 (GRCm39) N148I possibly damaging Het
Hexa T C 9: 59,462,660 (GRCm39) S129P probably damaging Het
Iigp1 A T 18: 60,523,738 (GRCm39) E285D probably benign Het
Il23r T A 6: 67,403,651 (GRCm39) probably null Het
Iqch T C 9: 63,419,581 (GRCm39) K463R probably benign Het
Kcnd1 A G X: 7,690,323 (GRCm39) probably null Het
Kif26b A T 1: 178,756,407 (GRCm39) probably null Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Lrp2 T C 2: 69,312,710 (GRCm39) D2526G possibly damaging Het
Map4 G T 9: 109,910,525 (GRCm39) G851C probably damaging Het
Mtmr11 A T 3: 96,076,413 (GRCm39) E456V possibly damaging Het
Muc13 G A 16: 33,628,409 (GRCm39) probably null Het
Myo18a C A 11: 77,710,798 (GRCm39) probably benign Het
Nphp4 T A 4: 152,587,465 (GRCm39) probably benign Het
Nrg3 T C 14: 38,103,659 (GRCm39) E445G probably damaging Het
Ntrk1 A G 3: 87,686,941 (GRCm39) probably null Het
Or8b1 G T 9: 38,399,351 (GRCm39) V9L possibly damaging Het
Parp6 T C 9: 59,531,288 (GRCm39) S57P probably damaging Het
Pcdhb12 A G 18: 37,569,858 (GRCm39) N335D probably damaging Het
Pdzph1 T C 17: 59,195,162 (GRCm39) probably null Het
Pea15a C T 1: 172,026,704 (GRCm39) R79H probably benign Het
Pik3ca A C 3: 32,492,076 (GRCm39) I225L possibly damaging Het
Pim3 T A 15: 88,748,793 (GRCm39) I270N probably damaging Het
Pkd1l1 T A 11: 8,829,112 (GRCm39) R1043S probably damaging Het
Plekhg6 A G 6: 125,354,431 (GRCm39) S70P probably benign Het
Ptpn13 T A 5: 103,637,527 (GRCm39) D138E possibly damaging Het
Rap1gap T C 4: 137,455,034 (GRCm39) L354P probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sf3a1 T A 11: 4,127,443 (GRCm39) S590T probably benign Het
Slc14a2 T C 18: 78,206,304 (GRCm39) probably benign Het
Slfn3 T G 11: 83,103,798 (GRCm39) I223S probably benign Het
Smarca1 C T X: 46,964,160 (GRCm39) V331I probably benign Het
Soat1 A G 1: 156,265,267 (GRCm39) probably benign Het
Tinagl1 A G 4: 130,061,226 (GRCm39) V308A probably benign Het
Tomm22 T A 15: 79,555,488 (GRCm39) Y78N probably damaging Het
Ttll1 T C 15: 83,380,609 (GRCm39) Y252C probably damaging Het
Ttn C T 2: 76,623,474 (GRCm39) V15368I probably benign Het
Ubr4 T C 4: 139,147,684 (GRCm39) probably benign Het
Wbp2 T C 11: 115,970,424 (GRCm39) probably null Het
Xkr7 A T 2: 152,896,177 (GRCm39) I344F probably damaging Het
Zfp947 A T 17: 22,364,919 (GRCm39) C252S probably benign Het
Other mutations in Fermt1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCACTGAGCAGAAGGTATGC -3'
(R):5'- GTGGAGCCCTGTATGTATCG -3'

Sequencing Primer
(F):5'- TGCAAGATTCTTAAGGGCAGTC -3'
(R):5'- TCTCACTGGGAATCTGGATCACG -3'
Posted On 2014-10-16