Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Cftr'

297563

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 #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

18170686-18322767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18274596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 905 (T905A)

Ref Sequence

ENSEMBL: ENSMUSP00000049228 (fasta)

Gene Model

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

AlphaFold

P26361

PDB Structure

mouse CFTR NBD1 with AMP.PNP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) apo [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ADP [X-RAY DIFFRACTION]
Phosphorylated Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP [X-RAY DIFFRACTION]
Cystic fibrosis transmembrane conductance regulator (CFTR) nucleotide-binding domain one (NBD1) with ATP, I4122 space group [X-RAY DIFFRACTION]
Structure of NBD1 from murine CFTR- F508S mutant [X-RAY DIFFRACTION]
Structure of NBD1 from murine CFTR- F508R mutant [X-RAY DIFFRACTION]
The crystal structure of the NBD1 domain of the mouse CFTR protein, deltaF508 mutant [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000045706
AA Change: T905A

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: T905A

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: T875A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: T875A

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Alx3	T	A	3: 107,512,175 (GRCm39)	M271K	possibly damaging	Het
Ank2	T	C	3: 126,749,565 (GRCm39)	E488G	probably damaging	Het
Arsk	T	A	13: 76,223,025 (GRCm39)	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,733,011 (GRCm39)	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,871,194 (GRCm39)	I158V	probably benign	Het
Bub1	G	A	2: 127,643,267 (GRCm39)	Q1026*	probably null	Het
C8a	A	G	4: 104,703,148 (GRCm39)	M303T	probably damaging	Het
Ciao3	C	T	17: 25,997,916 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,208,310 (GRCm39)	K132*	probably null	Het
Depdc5	T	A	5: 33,125,131 (GRCm39)	L531Q	probably damaging	Het
Dzip1	G	A	14: 119,146,988 (GRCm39)		probably benign	Het
F5	C	A	1: 164,020,686 (GRCm39)	L1054I	probably benign	Het
Gm4353	A	T	7: 115,682,987 (GRCm39)	I198N	probably damaging	Het
Il1a	T	A	2: 129,150,996 (GRCm39)	E9V	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kndc1	T	C	7: 139,490,326 (GRCm39)	V276A	probably benign	Het
Or2aj5	A	T	16: 19,424,549 (GRCm39)	Y290N	probably damaging	Het
Or4a74	A	C	2: 89,439,739 (GRCm39)	S236A	possibly damaging	Het
Or6n2	A	T	1: 173,897,020 (GRCm39)	D52V	possibly damaging	Het
Palld	T	C	8: 62,137,968 (GRCm39)	S596G	probably benign	Het
Pdc	A	T	1: 150,208,760 (GRCm39)	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,595,209 (GRCm39)	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,288,018 (GRCm39)	D43V	probably damaging	Het
Prpf31	G	T	7: 3,641,750 (GRCm39)	G356C	probably damaging	Het
Rbpj	T	A	5: 53,799,485 (GRCm39)	I100K	probably damaging	Het
Rufy3	A	G	5: 88,788,521 (GRCm39)		probably benign	Het
Slc40a1	C	T	1: 45,950,553 (GRCm39)	V300I	probably benign	Het
Slc6a12	A	T	6: 121,337,473 (GRCm39)	I386F	probably benign	Het
Strip1	C	T	3: 107,524,210 (GRCm39)	R569H	possibly damaging	Het
Tep1	A	T	14: 51,073,570 (GRCm39)	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649 (GRCm39)	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,775,980 (GRCm39)	C44*	probably null	Het
Uba1	G	A	X: 20,544,902 (GRCm39)	R693H	possibly damaging	Het
Ugt2b38	T	C	5: 87,569,590 (GRCm39)	T246A	possibly damaging	Het
Usp24	A	G	4: 106,249,564 (GRCm39)	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,496 (GRCm39)	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,130,372 (GRCm39)	W221R	possibly damaging	Het
Xpo4	T	C	14: 57,831,290 (GRCm39)	T773A	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp518a	T	A	19: 40,903,874 (GRCm39)	S1268T	probably benign	Het
Znfx1	T	C	2: 166,898,087 (GRCm39)	D279G	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
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