Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Cftr'

41918

Institutional Source

Beutler Lab

Gene Symbol

Cftr

Ensembl Gene

ENSMUSG00000041301

Gene Name

cystic fibrosis transmembrane conductance regulator

Synonyms

Abcc7

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

R0480 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

18170686-18322767 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 18274517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045706] [ENSMUST00000115405] [ENSMUST00000115406] [ENSMUST00000140407]

AlphaFold

P26361

Predicted Effect

probably benign
Transcript: ENSMUST00000045706

SMART Domains

Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	81	350	1.4e-48	PFAM
Pfam:ABC_tran	441	570	2.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115406

SMART Domains

Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	81	350	1.2e-48	PFAM
Pfam:ABC_tran	441	568	6.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143135

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,012 (GRCm39)	L165F	probably damaging	Het
Adamts18	A	G	8: 114,465,450 (GRCm39)	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,171,055 (GRCm39)	A518S	probably benign	Het
Adcy2	C	T	13: 68,880,231 (GRCm39)	V363M	probably damaging	Het
Ago4	G	T	4: 126,419,870 (GRCm39)	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,497,044 (GRCm39)	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,263,596 (GRCm39)	N137I	probably damaging	Het
Ank3	T	A	10: 69,715,756 (GRCm39)	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,356,823 (GRCm39)	T65A	possibly damaging	Het
Aox1	A	T	1: 58,082,810 (GRCm39)		probably benign	Het
Arhgap11a	A	T	2: 113,670,163 (GRCm39)	I320N	probably benign	Het
Arhgap17	G	A	7: 122,893,867 (GRCm39)	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,611,348 (GRCm39)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,649,500 (GRCm39)		probably benign	Het
Bmpr2	C	T	1: 59,884,818 (GRCm39)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,106,608 (GRCm39)	I380V	probably benign	Het
C2cd2	G	A	16: 97,678,348 (GRCm39)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,420,723 (GRCm39)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,397,789 (GRCm39)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,468,939 (GRCm39)	K162N	probably benign	Het
Cdca5	G	T	19: 6,140,328 (GRCm39)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,870,054 (GRCm39)	F239S	probably benign	Het
Cdkl3	T	C	11: 51,895,882 (GRCm39)	V43A	probably damaging	Het
Cep152	G	T	2: 125,423,639 (GRCm39)	Q921K	possibly damaging	Het
Chmp5	T	C	4: 40,948,690 (GRCm39)		probably benign	Het
Cit	T	A	5: 116,071,452 (GRCm39)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm39)		probably benign	Het
Cnr2	A	G	4: 135,644,912 (GRCm39)	E330G	probably benign	Het
Cyp21a1	A	T	17: 35,020,800 (GRCm39)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,420,696 (GRCm39)	T575A	probably benign	Het
Dedd2	A	G	7: 24,903,050 (GRCm39)	V303A	probably damaging	Het
Dmd	G	T	X: 83,469,344 (GRCm39)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,885,915 (GRCm39)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,077,708 (GRCm39)	N934K	probably damaging	Het
Dock1	C	T	7: 134,339,447 (GRCm39)	L106F	probably damaging	Het
Fat3	A	G	9: 15,909,025 (GRCm39)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm39)	C222*	probably null	Het
Gnmt	T	C	17: 47,036,854 (GRCm39)	T252A	probably benign	Het
Gpi-ps	A	G	8: 5,689,888 (GRCm39)		noncoding transcript	Het
Gsta5	C	T	9: 78,210,099 (GRCm39)	A135V	probably benign	Het
Gtf2f1	A	G	17: 57,311,307 (GRCm39)		probably null	Het
Gtf3a	T	C	5: 146,890,039 (GRCm39)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,850,788 (GRCm39)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,276,589 (GRCm39)		probably benign	Het
Homer2	T	C	7: 81,268,351 (GRCm39)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,277,335 (GRCm39)	S2885P	probably damaging	Het
Insr	A	G	8: 3,211,770 (GRCm39)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,972,081 (GRCm39)	V362E	probably damaging	Het
Kank2	T	C	9: 21,691,195 (GRCm39)	N513S	probably damaging	Het
Kl	T	G	5: 150,876,753 (GRCm39)	V191G	probably damaging	Het
Krt23	A	G	11: 99,377,524 (GRCm39)		probably null	Het
Lama3	A	C	18: 12,583,481 (GRCm39)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,332,720 (GRCm39)	A281T	possibly damaging	Het
Lck	T	C	4: 129,449,433 (GRCm39)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,689,864 (GRCm39)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,143,526 (GRCm39)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,423,793 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,639,718 (GRCm39)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,121,742 (GRCm39)		probably benign	Het
Mef2c	A	T	13: 83,741,020 (GRCm39)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,224,980 (GRCm39)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm39)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,374 (GRCm39)	G308E	probably damaging	Het
Mms19	A	T	19: 41,943,285 (GRCm39)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,537,959 (GRCm39)		probably benign	Het
Mypn	C	T	10: 63,028,982 (GRCm39)	R27H	probably benign	Het
Nav3	T	C	10: 109,689,161 (GRCm39)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,389,105 (GRCm39)	I57F	probably damaging	Het
Ncstn	T	C	1: 171,910,159 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Notch2	C	T	3: 98,053,853 (GRCm39)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,024,772 (GRCm39)	K423*	probably null	Het
Or51l14	A	G	7: 103,100,835 (GRCm39)	N97S	probably benign	Het
Or5d37	A	C	2: 87,923,972 (GRCm39)	S103A	probably benign	Het
Or5k1	T	C	16: 58,617,684 (GRCm39)	N175S	probably benign	Het
Or9a2	A	T	6: 41,749,198 (GRCm39)	C12S	probably benign	Het
Ostm1	T	A	10: 42,572,343 (GRCm39)	M242K	probably damaging	Het
Oxnad1	T	A	14: 31,821,437 (GRCm39)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,546,152 (GRCm39)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,113,476 (GRCm39)		probably benign	Het
Peak1	C	A	9: 56,165,916 (GRCm39)	V671L	probably benign	Het
Pex1	G	A	5: 3,656,444 (GRCm39)		probably null	Het
Plk4	T	A	3: 40,760,075 (GRCm39)	F324I	probably benign	Het
Poglut2	C	T	1: 44,149,917 (GRCm39)	W424*	probably null	Het
Ppfibp1	C	A	6: 146,920,529 (GRCm39)		probably null	Het
Prcp	T	A	7: 92,568,290 (GRCm39)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,987,224 (GRCm39)	E757G	probably benign	Het
Prss52	T	A	14: 64,351,093 (GRCm39)	Y293N	probably damaging	Het
Prune2	A	G	19: 16,984,156 (GRCm39)		probably benign	Het
Ptprk	G	C	10: 28,461,943 (GRCm39)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,461,944 (GRCm39)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm39)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,475,452 (GRCm39)	F526Y	probably benign	Het
Sema4b	T	C	7: 79,869,954 (GRCm39)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,001,960 (GRCm39)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,060,550 (GRCm39)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,188,966 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,862,400 (GRCm39)	S148P	probably damaging	Het
Taf9b	A	G	X: 105,262,014 (GRCm39)	S58P	probably damaging	Het
Tgm4	A	T	9: 122,891,484 (GRCm39)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,385,468 (GRCm39)		probably benign	Het
Tmtc3	A	T	10: 100,307,266 (GRCm39)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,828,820 (GRCm39)	G116R	probably damaging	Het
Tpr	A	G	1: 150,303,992 (GRCm39)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,232,863 (GRCm39)	L986*	probably null	Het
Txndc15	A	G	13: 55,872,436 (GRCm39)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,315 (GRCm39)	I15L	probably benign	Het
Upf2	T	C	2: 5,962,445 (GRCm39)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,617,371 (GRCm39)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,493,456 (GRCm39)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,213,240 (GRCm39)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,260,910 (GRCm39)	C79*	probably null	Het
Zfp628	A	T	7: 4,924,615 (GRCm39)	T946S	probably benign	Het

Other mutations in Cftr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R4857:Cftr	UTSW	6	18,320,974 (GRCm39)	missense	possibly damaging	0.92
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'- GTTCAAGTTGAAAGCTGTTCAGTGCC -3'
(R):5'- GCTGTGATTAACGTATGCACCAGCG -3'

Sequencing Primer
(F):5'- GAAAGCTGTTCAGTGCCTTTATC -3'
(R):5'- AGCGGCAAACCTCTGAAG -3'

Posted On

2013-05-23