Incidental Mutation 'IGL01101:Cfhr1'
ID |
50266 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cfhr1
|
Ensembl Gene |
ENSMUSG00000057037 |
Gene Name |
complement factor H-related 1 |
Synonyms |
Cfhl1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01101
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139481322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 186
(Y186F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
AlphaFold |
Q61406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023965
AA Change: Y186F
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000023965 Gene: ENSMUSG00000057037 AA Change: Y186F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CCP
|
28 |
88 |
1.12e-4 |
SMART |
CCP
|
92 |
145 |
3.48e-10 |
SMART |
CCP
|
154 |
208 |
4.95e-15 |
SMART |
CCP
|
215 |
269 |
3.5e-15 |
SMART |
CCP
|
273 |
334 |
1.04e1 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161224
AA Change: Y5F
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
T |
A |
15: 94,241,923 (GRCm39) |
D695V |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,990,251 (GRCm39) |
|
probably benign |
Het |
Akap4 |
T |
A |
X: 6,942,423 (GRCm39) |
M242K |
probably benign |
Het |
Cd207 |
T |
C |
6: 83,652,839 (GRCm39) |
D97G |
probably benign |
Het |
Cdc20 |
A |
G |
4: 118,292,749 (GRCm39) |
V333A |
possibly damaging |
Het |
Cdhr2 |
A |
G |
13: 54,865,948 (GRCm39) |
|
probably benign |
Het |
Cnbd1 |
T |
A |
4: 18,907,098 (GRCm39) |
I159F |
probably benign |
Het |
Cyp2j11 |
A |
C |
4: 96,227,332 (GRCm39) |
M228R |
probably benign |
Het |
Dach1 |
C |
A |
14: 98,077,640 (GRCm39) |
S581I |
possibly damaging |
Het |
Dbnl |
A |
G |
11: 5,743,722 (GRCm39) |
D71G |
possibly damaging |
Het |
F8 |
T |
A |
X: 74,330,993 (GRCm39) |
T966S |
possibly damaging |
Het |
Filip1 |
T |
A |
9: 79,805,528 (GRCm39) |
L75F |
probably benign |
Het |
Foxi2 |
A |
G |
7: 135,013,736 (GRCm39) |
Y322C |
probably benign |
Het |
Ftsj3 |
A |
G |
11: 106,146,458 (GRCm39) |
V7A |
probably benign |
Het |
Gm8362 |
A |
T |
14: 18,145,196 (GRCm39) |
S204T |
probably benign |
Het |
Ibtk |
C |
A |
9: 85,614,675 (GRCm39) |
|
probably benign |
Het |
Marf1 |
C |
T |
16: 13,964,600 (GRCm39) |
V267I |
possibly damaging |
Het |
Mmp27 |
T |
A |
9: 7,573,416 (GRCm39) |
D169E |
probably damaging |
Het |
Or10ag53 |
C |
A |
2: 87,082,806 (GRCm39) |
T175K |
probably damaging |
Het |
Or4a74 |
C |
T |
2: 89,440,191 (GRCm39) |
C85Y |
probably benign |
Het |
Or4k1 |
A |
T |
14: 50,377,511 (GRCm39) |
M195K |
probably benign |
Het |
P4ha2 |
G |
T |
11: 54,010,131 (GRCm39) |
C296F |
probably damaging |
Het |
Scart2 |
A |
T |
7: 139,876,017 (GRCm39) |
Q543L |
probably benign |
Het |
Slc38a5 |
T |
C |
X: 8,137,750 (GRCm39) |
|
probably benign |
Het |
Sorbs2 |
G |
T |
8: 46,198,460 (GRCm39) |
R36L |
possibly damaging |
Het |
Tmem207 |
A |
C |
16: 26,336,627 (GRCm39) |
Y42* |
probably null |
Het |
Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
|
Other mutations in Cfhr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Cfhr1
|
APN |
1 |
139,484,253 (GRCm39) |
unclassified |
probably benign |
|
IGL00656:Cfhr1
|
APN |
1 |
139,475,493 (GRCm39) |
unclassified |
probably benign |
|
IGL01099:Cfhr1
|
APN |
1 |
139,475,497 (GRCm39) |
unclassified |
probably benign |
|
IGL01617:Cfhr1
|
APN |
1 |
139,481,417 (GRCm39) |
nonsense |
probably null |
|
IGL01732:Cfhr1
|
APN |
1 |
139,478,606 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01935:Cfhr1
|
APN |
1 |
139,478,740 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02368:Cfhr1
|
APN |
1 |
139,475,551 (GRCm39) |
unclassified |
probably benign |
|
IGL02456:Cfhr1
|
APN |
1 |
139,484,131 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03105:Cfhr1
|
APN |
1 |
139,475,565 (GRCm39) |
unclassified |
probably benign |
|
R0681:Cfhr1
|
UTSW |
1 |
139,485,249 (GRCm39) |
missense |
probably damaging |
0.99 |
R1466:Cfhr1
|
UTSW |
1 |
139,485,312 (GRCm39) |
missense |
probably benign |
0.17 |
R1466:Cfhr1
|
UTSW |
1 |
139,485,312 (GRCm39) |
missense |
probably benign |
0.17 |
R1829:Cfhr1
|
UTSW |
1 |
139,481,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:Cfhr1
|
UTSW |
1 |
139,478,624 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2118:Cfhr1
|
UTSW |
1 |
139,478,642 (GRCm39) |
missense |
probably benign |
0.01 |
R3747:Cfhr1
|
UTSW |
1 |
139,485,372 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3748:Cfhr1
|
UTSW |
1 |
139,485,372 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3749:Cfhr1
|
UTSW |
1 |
139,485,372 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4208:Cfhr1
|
UTSW |
1 |
139,475,616 (GRCm39) |
unclassified |
probably benign |
|
R4566:Cfhr1
|
UTSW |
1 |
139,481,386 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4681:Cfhr1
|
UTSW |
1 |
139,478,667 (GRCm39) |
nonsense |
probably null |
|
R4839:Cfhr1
|
UTSW |
1 |
139,487,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Cfhr1
|
UTSW |
1 |
139,484,068 (GRCm39) |
critical splice donor site |
probably null |
|
R5572:Cfhr1
|
UTSW |
1 |
139,484,165 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6043:Cfhr1
|
UTSW |
1 |
139,478,606 (GRCm39) |
missense |
probably benign |
0.01 |
R6176:Cfhr1
|
UTSW |
1 |
139,478,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R7643:Cfhr1
|
UTSW |
1 |
139,481,323 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7689:Cfhr1
|
UTSW |
1 |
139,475,478 (GRCm39) |
missense |
unknown |
|
R7852:Cfhr1
|
UTSW |
1 |
139,484,165 (GRCm39) |
missense |
probably damaging |
0.98 |
R8120:Cfhr1
|
UTSW |
1 |
139,475,583 (GRCm39) |
missense |
unknown |
|
R8376:Cfhr1
|
UTSW |
1 |
139,475,549 (GRCm39) |
missense |
unknown |
|
R8433:Cfhr1
|
UTSW |
1 |
139,485,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Cfhr1
|
UTSW |
1 |
139,485,293 (GRCm39) |
missense |
probably benign |
0.00 |
R9409:Cfhr1
|
UTSW |
1 |
139,478,704 (GRCm39) |
missense |
probably benign |
0.02 |
R9755:Cfhr1
|
UTSW |
1 |
139,487,889 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2013-06-21 |