Incidental Mutation 'R4857:Cftr'
ID 374053
Institutional Source Beutler Lab
Gene Symbol Cftr
Ensembl Gene ENSMUSG00000041301
Gene Name cystic fibrosis transmembrane conductance regulator
Synonyms Abcc7
MMRRC Submission 042468-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R4857 (G1)
Quality Score 136
Status Validated
Chromosome 6
Chromosomal Location 18170686-18322767 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18320974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1428 (T1428M)
Ref Sequence ENSEMBL: ENSMUSP00000111065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045706] [ENSMUST00000115405] [ENSMUST00000115406] [ENSMUST00000140407]
AlphaFold P26361
Predicted Effect possibly damaging
Transcript: ENSMUST00000045706
AA Change: T1458M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: T1458M

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 3.7e-40 PFAM
AAA 450 623 2.16e-12 SMART
Pfam:CFTR_R 639 844 2e-93 PFAM
Pfam:ABC_membrane 857 1142 2.7e-53 PFAM
AAA 1232 1414 9.94e-12 SMART
low complexity region 1465 1474 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115405
SMART Domains Protein: ENSMUSP00000111064
Gene: ENSMUSG00000041301

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 1.4e-48 PFAM
Pfam:ABC_tran 441 570 2.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115406
AA Change: T1428M

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: T1428M

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 167 4e-14 PFAM
Pfam:ABC_membrane 162 320 2.5e-20 PFAM
AAA 420 593 2.16e-12 SMART
Pfam:CFTR_R 609 815 1.3e-97 PFAM
Pfam:ABC_membrane 827 1112 1e-50 PFAM
AAA 1202 1384 9.94e-12 SMART
low complexity region 1435 1444 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140407
SMART Domains Protein: ENSMUSP00000116957
Gene: ENSMUSG00000041301

DomainStartEndE-ValueType
Pfam:ABC_membrane 81 350 1.2e-48 PFAM
Pfam:ABC_tran 441 568 6.3e-20 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (115/119)
MGI Phenotype FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548G14Rik C T 15: 46,488,927 (GRCm39) noncoding transcript Het
Aasdh A T 5: 77,035,131 (GRCm39) F428L probably benign Het
Abca13 A G 11: 9,244,143 (GRCm39) N2002S probably benign Het
Acot7 T G 4: 152,322,211 (GRCm39) F248V possibly damaging Het
Acsf2 A G 11: 94,460,164 (GRCm39) I396T probably benign Het
Agbl1 A G 7: 76,069,583 (GRCm39) N372D probably benign Het
Ahctf1 A T 1: 179,626,922 (GRCm39) probably benign Het
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Bcl7b A G 5: 135,202,033 (GRCm39) *59W probably null Het
Bdh1 A G 16: 31,266,366 (GRCm39) probably null Het
Bin3 A G 14: 70,366,344 (GRCm39) N69S probably benign Het
Bltp3b A T 10: 89,615,825 (GRCm39) N156I probably damaging Het
Bsdc1 T C 4: 129,365,685 (GRCm39) probably benign Het
Cacna1i T C 15: 80,253,863 (GRCm39) V700A probably damaging Het
Calcr T C 6: 3,708,511 (GRCm39) N225S probably benign Het
Cby2 C T 14: 75,830,478 (GRCm39) E8K probably damaging Het
Cdh23 A G 10: 60,227,563 (GRCm39) S1173P probably damaging Het
Chd1l T C 3: 97,479,975 (GRCm39) K591E probably benign Het
Chrd C T 16: 20,557,508 (GRCm39) P709L possibly damaging Het
Ckap4 T C 10: 84,369,352 (GRCm39) R127G possibly damaging Het
Cnbd2 T C 2: 156,209,485 (GRCm39) F476S probably benign Het
Dclk3 T C 9: 111,297,716 (GRCm39) V420A probably benign Het
Dnah5 A G 15: 28,345,953 (GRCm39) D2431G probably benign Het
Duox1 T A 2: 122,146,212 (GRCm39) I10N probably benign Het
Ece2 T A 16: 20,436,556 (GRCm39) V126D probably damaging Het
Elfn1 T C 5: 139,958,840 (GRCm39) Y615H probably damaging Het
Epha1 T C 6: 42,338,416 (GRCm39) D720G probably benign Het
Fras1 A G 5: 96,926,018 (GRCm39) I3741V probably benign Het
Gm53 A T 11: 96,142,562 (GRCm39) noncoding transcript Het
Grb10 G T 11: 11,901,469 (GRCm39) probably benign Het
Grid2ip A G 5: 143,368,384 (GRCm39) H568R probably damaging Het
Gsap A T 5: 21,492,797 (GRCm39) probably null Het
Gse1 T C 8: 121,299,496 (GRCm39) probably benign Het
Gstm1 T C 3: 107,923,724 (GRCm39) R94G possibly damaging Het
Gtf2ird1 A G 5: 134,391,398 (GRCm39) F866L probably damaging Het
Haao T A 17: 84,146,009 (GRCm39) probably null Het
Hcn4 A T 9: 58,766,853 (GRCm39) I805F unknown Het
Hemk1 A T 9: 107,206,647 (GRCm39) probably benign Het
Il12rb1 A T 8: 71,263,232 (GRCm39) Y33F possibly damaging Het
Il19 T A 1: 130,863,683 (GRCm39) I103F probably damaging Het
Itpr1 A G 6: 108,387,828 (GRCm39) N1522S probably benign Het
Klhdc8a A G 1: 132,230,843 (GRCm39) Y236C probably damaging Het
Klhl3 C T 13: 58,166,620 (GRCm39) G404S probably damaging Het
Large2 T C 2: 92,196,979 (GRCm39) probably benign Het
Lgi1 C A 19: 38,294,698 (GRCm39) A490E probably damaging Het
Lmbr1 A G 5: 29,528,807 (GRCm39) L112P probably damaging Het
Lmo7 T A 14: 102,124,784 (GRCm39) probably null Het
Lpin1 A C 12: 16,613,631 (GRCm39) I479S possibly damaging Het
Lrrc40 T A 3: 157,771,866 (GRCm39) probably benign Het
Lrrc9 A G 12: 72,546,466 (GRCm39) N1218S possibly damaging Het
Map3k9 A G 12: 81,771,401 (GRCm39) V729A probably benign Het
Marf1 A T 16: 13,946,475 (GRCm39) Y1215* probably null Het
Moap1 T A 12: 102,708,824 (GRCm39) I242L probably benign Het
Mpo A G 11: 87,687,107 (GRCm39) K218E probably benign Het
Mpz C T 1: 170,986,379 (GRCm39) R98C probably damaging Het
Neb T G 2: 52,091,992 (GRCm39) K5024T probably damaging Het
Nlrp4b C T 7: 10,449,225 (GRCm39) T109I probably benign Het
Noc3l T A 19: 38,781,244 (GRCm39) probably null Het
Nosip G A 7: 44,726,102 (GRCm39) V220I probably benign Het
Nyap1 A C 5: 137,733,840 (GRCm39) S398A probably damaging Het
Or12d17 A G 17: 37,777,714 (GRCm39) M206V possibly damaging Het
Or4a68 T G 2: 89,269,967 (GRCm39) I219L probably damaging Het
Or4f54 A G 2: 111,123,488 (GRCm39) N292D possibly damaging Het
Osbpl7 T C 11: 96,947,495 (GRCm39) probably benign Het
Pard3 A T 8: 128,050,535 (GRCm39) Y199F probably damaging Het
Pcdha11 G A 18: 37,144,505 (GRCm39) V199I probably benign Het
Pcdhga8 A T 18: 37,859,967 (GRCm39) N341I probably damaging Het
Pcsk4 A G 10: 80,160,873 (GRCm39) S318P probably damaging Het
Phldb1 C A 9: 44,607,389 (GRCm39) R1272L probably damaging Het
Phlpp2 A G 8: 110,603,642 (GRCm39) T103A probably damaging Het
Pibf1 T A 14: 99,423,937 (GRCm39) Y503* probably null Het
Pkn1 A T 8: 84,410,856 (GRCm39) probably null Het
Pramel22 A T 4: 143,383,158 (GRCm39) N20K possibly damaging Het
Ptprf A G 4: 118,074,394 (GRCm39) probably benign Het
Rbm19 C A 5: 120,270,898 (GRCm39) probably benign Het
Rcan1 T C 16: 92,262,794 (GRCm39) D5G possibly damaging Het
Recql5 A T 11: 115,819,038 (GRCm39) L176Q probably damaging Het
Rev3l T A 10: 39,714,455 (GRCm39) L2393Q probably damaging Het
Rp1 C A 1: 4,422,539 (GRCm39) K180N probably damaging Het
Rp1 T A 1: 4,422,540 (GRCm39) K180M probably damaging Het
Sdk1 T C 5: 142,147,531 (GRCm39) V1461A probably benign Het
Sdk2 A T 11: 113,712,208 (GRCm39) L1653* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint10 A T 4: 112,603,830 (GRCm39) V119D possibly damaging Het
Sncaip T C 18: 53,002,297 (GRCm39) S273P probably benign Het
Sp1 T G 15: 102,339,409 (GRCm39) I449S probably damaging Het
Spata31h1 T C 10: 82,119,682 (GRCm39) T4443A possibly damaging Het
Spats2 T C 15: 99,072,301 (GRCm39) L78P probably damaging Het
Stambp T A 6: 83,533,348 (GRCm39) N305I probably benign Het
Stim2 A T 5: 54,275,888 (GRCm39) S688C probably damaging Het
Sytl3 A G 17: 7,003,980 (GRCm39) N355S probably damaging Het
Taf4b C T 18: 14,937,635 (GRCm39) A236V probably null Het
Tnfaip6 A G 2: 51,941,086 (GRCm39) probably null Het
Trpc2 T A 7: 101,733,176 (GRCm39) S416T probably benign Het
Ttn T C 2: 76,569,210 (GRCm39) T27228A probably damaging Het
Ush2a T A 1: 188,269,917 (GRCm39) D1721E probably benign Het
Usp47 T A 7: 111,681,759 (GRCm39) H523Q probably damaging Het
Vmn1r8 A T 6: 57,013,338 (GRCm39) I130F probably benign Het
Vps13b A G 15: 35,456,800 (GRCm39) S749G probably benign Het
Xrcc5 C A 1: 72,365,424 (GRCm39) T283K possibly damaging Het
Ydjc A G 16: 16,966,002 (GRCm39) probably benign Het
Other mutations in Cftr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Cftr APN 6 18,268,429 (GRCm39) critical splice donor site probably null
IGL01082:Cftr APN 6 18,226,102 (GRCm39) missense probably damaging 0.97
IGL01113:Cftr APN 6 18,270,252 (GRCm39) missense probably damaging 1.00
IGL01383:Cftr APN 6 18,226,040 (GRCm39) missense probably benign 0.00
IGL01595:Cftr APN 6 18,198,238 (GRCm39) splice site probably benign
IGL01820:Cftr APN 6 18,226,138 (GRCm39) missense probably damaging 1.00
IGL02223:Cftr APN 6 18,221,481 (GRCm39) missense probably damaging 1.00
IGL02249:Cftr APN 6 18,277,870 (GRCm39) missense possibly damaging 0.58
IGL02439:Cftr APN 6 18,258,237 (GRCm39) nonsense probably null
IGL02537:Cftr APN 6 18,274,596 (GRCm39) missense probably benign 0.31
IGL03234:Cftr APN 6 18,225,987 (GRCm39) missense probably damaging 0.96
BB004:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
BB014:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
PIT4453001:Cftr UTSW 6 18,214,105 (GRCm39) missense probably damaging 0.99
PIT4520001:Cftr UTSW 6 18,277,842 (GRCm39) missense probably benign 0.01
R0114:Cftr UTSW 6 18,282,447 (GRCm39) missense probably damaging 1.00
R0329:Cftr UTSW 6 18,226,096 (GRCm39) missense probably null 1.00
R0330:Cftr UTSW 6 18,226,096 (GRCm39) missense probably null 1.00
R0331:Cftr UTSW 6 18,235,225 (GRCm39) missense possibly damaging 0.72
R0480:Cftr UTSW 6 18,274,517 (GRCm39) splice site probably benign
R0612:Cftr UTSW 6 18,198,125 (GRCm39) missense probably benign 0.01
R0633:Cftr UTSW 6 18,305,979 (GRCm39) missense probably damaging 0.99
R0830:Cftr UTSW 6 18,270,224 (GRCm39) missense probably benign 0.02
R1559:Cftr UTSW 6 18,225,936 (GRCm39) missense probably benign 0.01
R1629:Cftr UTSW 6 18,226,105 (GRCm39) missense probably damaging 1.00
R1636:Cftr UTSW 6 18,226,156 (GRCm39) missense probably damaging 0.99
R1860:Cftr UTSW 6 18,268,288 (GRCm39) missense probably benign 0.00
R2043:Cftr UTSW 6 18,320,934 (GRCm39) missense probably benign
R2211:Cftr UTSW 6 18,214,279 (GRCm39) missense probably null 0.13
R4737:Cftr UTSW 6 18,299,882 (GRCm39) missense probably benign 0.19
R4793:Cftr UTSW 6 18,226,087 (GRCm39) missense probably damaging 1.00
R4984:Cftr UTSW 6 18,235,198 (GRCm39) missense possibly damaging 0.89
R4999:Cftr UTSW 6 18,221,613 (GRCm39) missense probably benign 0.17
R5045:Cftr UTSW 6 18,230,080 (GRCm39) missense probably benign 0.20
R5183:Cftr UTSW 6 18,299,832 (GRCm39) missense probably damaging 0.99
R5197:Cftr UTSW 6 18,255,413 (GRCm39) missense probably benign 0.00
R5288:Cftr UTSW 6 18,226,128 (GRCm39) nonsense probably null
R5337:Cftr UTSW 6 18,319,058 (GRCm39) missense probably damaging 1.00
R5549:Cftr UTSW 6 18,227,953 (GRCm39) missense probably benign 0.00
R5596:Cftr UTSW 6 18,268,095 (GRCm39) missense probably benign 0.00
R5651:Cftr UTSW 6 18,255,364 (GRCm39) splice site probably null
R5660:Cftr UTSW 6 18,313,686 (GRCm39) missense probably benign 0.22
R5941:Cftr UTSW 6 18,313,645 (GRCm39) missense probably damaging 1.00
R6221:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
R6222:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
R6229:Cftr UTSW 6 18,220,683 (GRCm39) missense probably damaging 1.00
R6256:Cftr UTSW 6 18,274,660 (GRCm39) missense probably damaging 0.96
R6257:Cftr UTSW 6 18,282,500 (GRCm39) missense probably benign 0.00
R6412:Cftr UTSW 6 18,285,603 (GRCm39) missense probably damaging 0.97
R6459:Cftr UTSW 6 18,258,235 (GRCm39) missense probably damaging 1.00
R6558:Cftr UTSW 6 18,222,527 (GRCm39) missense probably damaging 1.00
R6724:Cftr UTSW 6 18,255,973 (GRCm39) nonsense probably null
R6787:Cftr UTSW 6 18,274,607 (GRCm39) nonsense probably null
R6861:Cftr UTSW 6 18,268,107 (GRCm39) missense probably benign 0.00
R6888:Cftr UTSW 6 18,313,729 (GRCm39) critical splice donor site probably null
R7084:Cftr UTSW 6 18,226,137 (GRCm39) missense probably benign 0.17
R7105:Cftr UTSW 6 18,318,971 (GRCm39) missense probably damaging 1.00
R7320:Cftr UTSW 6 18,319,012 (GRCm39) missense probably damaging 0.97
R7359:Cftr UTSW 6 18,221,623 (GRCm39) missense probably benign 0.00
R7466:Cftr UTSW 6 18,227,972 (GRCm39) missense probably benign
R7502:Cftr UTSW 6 18,214,295 (GRCm39) missense probably damaging 1.00
R7748:Cftr UTSW 6 18,277,888 (GRCm39) critical splice donor site probably null
R7808:Cftr UTSW 6 18,204,204 (GRCm39) missense probably benign
R7817:Cftr UTSW 6 18,267,967 (GRCm39) missense probably damaging 0.97
R7927:Cftr UTSW 6 18,267,970 (GRCm39) missense possibly damaging 0.81
R7968:Cftr UTSW 6 18,226,048 (GRCm39) missense probably benign 0.00
R7995:Cftr UTSW 6 18,214,155 (GRCm39) missense probably damaging 1.00
R8171:Cftr UTSW 6 18,258,287 (GRCm39) missense probably damaging 1.00
R8210:Cftr UTSW 6 18,220,696 (GRCm39) missense probably damaging 1.00
R8548:Cftr UTSW 6 18,273,698 (GRCm39) missense possibly damaging 0.87
R8712:Cftr UTSW 6 18,274,696 (GRCm39) missense probably damaging 0.99
R8737:Cftr UTSW 6 18,319,728 (GRCm39) missense probably damaging 1.00
R8926:Cftr UTSW 6 18,268,003 (GRCm39) missense possibly damaging 0.83
R8979:Cftr UTSW 6 18,227,947 (GRCm39) missense probably benign 0.10
R8996:Cftr UTSW 6 18,255,945 (GRCm39) nonsense probably null
R9087:Cftr UTSW 6 18,214,180 (GRCm39) missense possibly damaging 0.91
R9115:Cftr UTSW 6 18,235,310 (GRCm39) missense probably damaging 1.00
R9406:Cftr UTSW 6 18,299,866 (GRCm39) missense probably benign 0.00
R9689:Cftr UTSW 6 18,313,649 (GRCm39) missense probably damaging 0.99
R9700:Cftr UTSW 6 18,268,359 (GRCm39) missense probably damaging 1.00
R9747:Cftr UTSW 6 18,285,636 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- GAGGTCTCACTAATGCCCTC -3'
(R):5'- GCATGTGGAAGCAAGAGTATATCC -3'

Sequencing Primer
(F):5'- TCTCCCTTAGGTCATAGAAGAGAGC -3'
(R):5'- GAGTATATCCACAGGTATTGTCCC -3'
Posted On 2016-03-01