Incidental Mutation 'R5197:Cftr'
| ID |
400341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cftr
|
| Ensembl Gene |
ENSMUSG00000041301 |
| Gene Name |
cystic fibrosis transmembrane conductance regulator |
| Synonyms |
Abcc7 |
| MMRRC Submission |
042773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R5197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18170686-18322767 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18255413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 540
(V540A)
|
| 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
AA Change: V540A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000049228
Gene: ENSMUSG00000041301
AA Change: V540A
| 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
AA Change: V540A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111064
Gene: ENSMUSG00000041301
AA Change: V540A
| 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: V510A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111065
Gene: ENSMUSG00000041301
AA Change: V510A
| 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
AA Change: V540A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000116957
Gene: ENSMUSG00000041301
AA Change: V540A
| 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
|
| Meta Mutation Damage Score |
0.3980 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
| Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
| Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
| Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
| Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
| Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
| Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
| Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
| Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
| Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
| Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
| Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
| H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
| Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
| Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
| Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
| Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
| Ngef |
C |
A |
1: 87,437,090 (GRCm39) |
G133* |
probably null |
Het |
| Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
| Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
| Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
| Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
| Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
| Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
| Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
| Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
| Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
| Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
| Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
| Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
| Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
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'- CCACTGAAGTTGCCTGCATG -3'
(R):5'- TGCACCATAACAACAAGTTTGG -3'
Sequencing Primer
(F):5'- ACTGAAGTTGCCTGCATGTTTCTG -3'
(R):5'- AAAACCACCATCTTTACCAAATTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation