Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Cftr'

77483

Institutional Source

Beutler Lab

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 #

R0830 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

18170686-18322767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18270224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 805 (I805V)

Ref Sequence

ENSEMBL: ENSMUSP00000111065 (fasta)

Gene Model

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

AlphaFold

P26361

Predicted Effect

probably benign
Transcript: ENSMUST00000045706
AA Change: I835V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: I835V

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
AA Change: I805V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: I805V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143135

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,624 (GRCm39)	R145H	probably damaging	Het
Adam26a	C	T	8: 44,021,439 (GRCm39)	V684I	probably benign	Het
Alk	T	C	17: 72,910,195 (GRCm39)	I170M	probably benign	Het
Apc2	T	C	10: 80,151,239 (GRCm39)	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,401,992 (GRCm39)	T1219A	probably damaging	Het
Bnip1	T	C	17: 27,008,679 (GRCm39)	S94P	probably benign	Het
Col25a1	T	A	3: 130,378,375 (GRCm39)	D609E	probably damaging	Het
Cplane1	T	A	15: 8,276,669 (GRCm39)	V2771E	unknown	Het
Cyp2g1	A	G	7: 26,514,216 (GRCm39)	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,771,101 (GRCm39)	T1098I	probably damaging	Het
Ddx39a	T	A	8: 84,446,452 (GRCm39)	C74S	possibly damaging	Het
E2f3	C	T	13: 30,169,543 (GRCm39)	A37T	probably benign	Het
Emilin2	A	G	17: 71,580,815 (GRCm39)	M637T	probably benign	Het
Exosc7	T	C	9: 122,948,358 (GRCm39)	L93P	probably benign	Het
F2	T	C	2: 91,460,545 (GRCm39)	E316G	probably benign	Het
Fat4	A	C	3: 39,053,258 (GRCm39)	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,981,344 (GRCm39)	K160E	probably benign	Het
Foxi2	A	G	7: 135,013,459 (GRCm39)	T230A	probably benign	Het
Fthl17a	A	G	X: 84,313,679 (GRCm39)	N154S	possibly damaging	Het
Hykk	G	A	9: 54,844,601 (GRCm39)	R222Q	probably damaging	Het
Il18rap	T	A	1: 40,582,150 (GRCm39)	V357E	probably damaging	Het
Ing4	A	G	6: 125,020,923 (GRCm39)	E15G	probably damaging	Het
Irak1	T	C	X: 73,060,189 (GRCm39)	D679G	probably damaging	Het
Itga1	T	C	13: 115,143,568 (GRCm39)	E321G	probably benign	Het
Nudt1	T	A	5: 140,321,076 (GRCm39)		probably null	Het
Nup58	A	G	14: 60,480,931 (GRCm39)	F138S	probably damaging	Het
Or10al6	A	T	17: 38,082,804 (GRCm39)	M87L	probably damaging	Het
Or2a5	G	T	6: 42,873,532 (GRCm39)	W49L	probably benign	Het
Pllp	T	C	8: 95,406,103 (GRCm39)	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,887,267 (GRCm39)	V37A	probably damaging	Het
Poglut3	T	G	9: 53,302,011 (GRCm39)	L32R	probably damaging	Het
Psme4	A	G	11: 30,757,797 (GRCm39)	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Sash1	C	T	10: 8,605,673 (GRCm39)	V906M	probably benign	Het
Scn1a	A	T	2: 66,130,128 (GRCm39)	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,752,989 (GRCm39)	S160C	probably benign	Het
Tex29	T	C	8: 11,904,157 (GRCm39)	V99A	probably benign	Het
Tg	A	T	15: 66,596,993 (GRCm39)	N79I	probably damaging	Het
Tie1	T	C	4: 118,339,860 (GRCm39)	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,593,452 (GRCm39)	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,740,968 (GRCm39)	G202S	possibly 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
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
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'- CATGCTAAGGTTTGGGAAGTCTCACTG -3'
(R):5'- AGGAAACTACCGTTGTACACATGCAC -3'

Sequencing Primer
(F):5'- AGACATcctattctctgtggc -3'
(R):5'- CGTTGTACACATGCACATACAC -3'

Posted On

2013-10-16