Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:Cftr'

93401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cftr

Ensembl Gene

ENSMUSG00000041301

Gene Name

cystic fibrosis transmembrane conductance regulator

Synonyms

Abcc7

Accession Numbers

Essential gene?

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

Stock #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

18170686-18322767 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 18198238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045706] [ENSMUST00000115405] [ENSMUST00000115406] [ENSMUST00000129452] [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: ENSMUST00000129452

SMART Domains

Protein: ENSMUSP00000115334
Gene: ENSMUSG00000041301

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	81	350	3.9e-39	PFAM
Pfam:ABC_tran	441	528	5.6e-11	PFAM

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

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,968,181 (GRCm39)	M111V	probably damaging	Het
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,069,111 (GRCm39)	C337*	probably null	Het
Nup160	A	G	2: 90,560,081 (GRCm39)	N1269D	probably damaging	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,565,107 (GRCm39)	Y101H	probably benign	Het
Sbk2	C	A	7: 4,960,712 (GRCm39)	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	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
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
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

Posted On

2013-12-09