Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02439:Cftr'

293382

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: 0.230) question?

Stock #

IGL02439

Quality Score

Status

Chromosome

Chromosomal Location

18170686-18322767 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 18258237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 592 (Y592*)

Ref Sequence

ENSEMBL: ENSMUSP00000111064 (fasta)

Gene Model

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

AlphaFold

P26361

Predicted Effect

probably damaging
Transcript: ENSMUST00000045706
AA Change: Y563N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: Y563N

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 null
Transcript: ENSMUST00000115405
AA Change: Y592*

SMART Domains

Protein: ENSMUSP00000111064
Gene: ENSMUSG00000041301
AA Change: Y592*

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 damaging
Transcript: ENSMUST00000115406
AA Change: Y533N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: Y533N

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: ENSMUST00000140532

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	T	14: 4,348,890 (GRCm38)	Y17F	probably benign	Het
Ablim2	A	C	5: 36,015,206 (GRCm39)	T507P	possibly damaging	Het
Arhgef28	T	C	13: 98,067,647 (GRCm39)	Y1426C	possibly damaging	Het
Eogt	C	T	6: 97,120,934 (GRCm39)	G93D	possibly damaging	Het
Exosc9	A	G	3: 36,607,180 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,874,582 (GRCm39)	I1329V	probably benign	Het
Gal3st1	T	C	11: 3,948,110 (GRCm39)	F106L	possibly damaging	Het
Gulp1	A	T	1: 44,820,164 (GRCm39)	I216F	probably damaging	Het
Ints13	A	T	6: 146,455,721 (GRCm39)		probably benign	Het
Kars1	G	A	8: 112,724,268 (GRCm39)	T453I	probably benign	Het
Kif14	A	G	1: 136,417,999 (GRCm39)	D844G	probably damaging	Het
Lgals3bp	A	T	11: 118,289,046 (GRCm39)	C93S	probably damaging	Het
Lst1	T	C	17: 35,405,958 (GRCm39)	I32V	probably benign	Het
Malsu1	T	A	6: 49,052,121 (GRCm39)	Y114N	probably damaging	Het
Ndufa5	A	T	6: 24,519,201 (GRCm39)	V41E	probably damaging	Het
Nme6	C	A	9: 109,670,999 (GRCm39)	P80T	probably damaging	Het
Odad2	T	A	18: 7,268,444 (GRCm39)	R358S	probably benign	Het
Or5ac20	A	G	16: 59,104,818 (GRCm39)	L14P	probably damaging	Het
Padi4	T	C	4: 140,473,532 (GRCm39)	D635G	probably damaging	Het
Pcf11	C	T	7: 92,311,049 (GRCm39)	S313N	possibly damaging	Het
Pdik1l	T	C	4: 134,006,015 (GRCm39)	H309R	probably benign	Het
Pdk2	A	T	11: 94,930,323 (GRCm39)		probably benign	Het
Pprc1	A	G	19: 46,060,758 (GRCm39)	S1606G	possibly damaging	Het
Ptch1	A	G	13: 63,692,910 (GRCm39)	I230T	probably damaging	Het
Scn10a	C	T	9: 119,447,914 (GRCm39)	R1381Q	probably benign	Het
Sestd1	T	C	2: 77,027,174 (GRCm39)	K479E	possibly damaging	Het
Sez6l2	C	T	7: 126,567,361 (GRCm39)	S892L	probably damaging	Het
Slc39a9	G	T	12: 80,713,350 (GRCm39)	A83S	probably benign	Het
Slc6a6	A	G	6: 91,726,808 (GRCm39)	Y483C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tas2r131	A	G	6: 132,934,732 (GRCm39)	S26P	probably damaging	Het
Timd2	A	G	11: 46,569,063 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,104,641 (GRCm39)	E27G	probably damaging	Het
Tns2	G	A	15: 102,022,978 (GRCm39)	G1256E	probably damaging	Het
Trpv6	T	A	6: 41,602,421 (GRCm39)	I322F	probably damaging	Het
Tshr	G	A	12: 91,504,321 (GRCm39)	V420M	probably damaging	Het
Ttn	C	A	2: 76,596,431 (GRCm39)	A20161S	probably damaging	Het
Vmn2r66	A	T	7: 84,654,455 (GRCm39)		probably benign	Het
Zfp438	T	A	18: 5,213,216 (GRCm39)	S581C	probably damaging	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
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

2015-04-16