Incidental Mutation 'IGL01617:Cfhr1'
| ID |
92408 |
| 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 # |
IGL01617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 139481417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 154
(C154*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
| AlphaFold |
Q61406 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023965
AA Change: C154*
|
| SMART Domains |
Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: C154*
| 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 |
probably benign
Transcript: ENSMUST00000161224
|
| 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 |
|---|
| Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
| Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
| Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
| Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,382,524 (GRCm39) |
Y172C |
probably benign |
Het |
| Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
| Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
| Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
| Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
| Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,246,503 (GRCm39) |
D48V |
probably benign |
Het |
| Nmbr |
G |
T |
10: 14,646,173 (GRCm39) |
R349M |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
| Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rgs11 |
A |
G |
17: 26,427,224 (GRCm39) |
H385R |
probably damaging |
Het |
| Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
| Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
| Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
| Ttc7b |
G |
T |
12: 100,352,215 (GRCm39) |
A414D |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly damaging |
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 |
|
|
IGL01101:Cfhr1
|
APN |
1 |
139,481,322 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
2013-12-09 |
Incidental Mutation