Incidental Mutation 'R1558:Fermt1'
ID 170398
Institutional Source Beutler Lab
Gene Symbol Fermt1
Ensembl Gene ENSMUSG00000027356
Gene Name fermitin family member 1
Synonyms Kindlin-1, 5830467P10Rik
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 132746309-132787826 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 132776739 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144342
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Caprin1 A T 2: 103,606,332 (GRCm39) F303I possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown 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
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
Predicted Primers PCR Primer
(F):5'- AGAGGGCACCATGCTTACAAGTTAC -3'
(R):5'- TGGGACACCAGCCTTATCCACTATG -3'

Sequencing Primer
(F):5'- GGTATTGAGACAACCCCAGTC -3'
(R):5'- ATCCACTATGACCTGGTTTGG -3'
Posted On 2014-04-13