Incidental Mutation 'R9755:Cfhr1'
ID |
732662 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr1
|
Ensembl Gene |
ENSMUSG00000057037 |
Gene Name |
complement factor H-related 1 |
Synonyms |
Cfhl1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R9755 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139487889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 3
(F3S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
AlphaFold |
Q61406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023965
AA Change: F3S
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000023965 Gene: ENSMUSG00000057037 AA Change: F3S
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,889,292 (GRCm39) |
M774K |
probably damaging |
Het |
Adamts9 |
T |
C |
6: 92,856,922 (GRCm39) |
R906G |
probably benign |
Het |
Adgrl4 |
A |
T |
3: 151,216,418 (GRCm39) |
T534S |
probably benign |
Het |
Amph |
A |
T |
13: 19,297,325 (GRCm39) |
D357V |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,227,926 (GRCm39) |
V452I |
possibly damaging |
Het |
B4galnt2 |
G |
A |
11: 95,774,801 (GRCm39) |
Q160* |
probably null |
Het |
C1galt1 |
T |
G |
6: 7,867,019 (GRCm39) |
N288K |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,651,559 (GRCm39) |
D967G |
probably damaging |
Het |
Cacul1 |
C |
T |
19: 60,533,955 (GRCm39) |
E216K |
probably damaging |
Het |
Cenpq |
A |
T |
17: 41,243,712 (GRCm39) |
S45R |
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,757,230 (GRCm39) |
M2216L |
unknown |
Het |
Csf2rb |
T |
G |
15: 78,232,824 (GRCm39) |
Y710* |
probably null |
Het |
Dhh |
A |
G |
15: 98,792,939 (GRCm39) |
V107A |
possibly damaging |
Het |
Etl4 |
A |
T |
2: 20,790,048 (GRCm39) |
T849S |
probably benign |
Het |
Gnrh1 |
G |
A |
14: 67,986,699 (GRCm39) |
E78K |
possibly damaging |
Het |
Golga3 |
A |
G |
5: 110,340,847 (GRCm39) |
T514A |
probably benign |
Het |
Gramd1c |
T |
A |
16: 43,803,879 (GRCm39) |
K393N |
probably benign |
Het |
Kcp |
T |
C |
6: 29,492,460 (GRCm39) |
Y844C |
probably damaging |
Het |
Lrrc15 |
T |
A |
16: 30,093,147 (GRCm39) |
H64L |
possibly damaging |
Het |
Mak |
G |
T |
13: 41,199,623 (GRCm39) |
Q339K |
probably benign |
Het |
Mdfic |
G |
T |
6: 15,799,758 (GRCm39) |
C295F |
probably damaging |
Het |
Mdfic2 |
A |
T |
6: 98,225,147 (GRCm39) |
N45K |
probably benign |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Miip |
A |
T |
4: 147,950,319 (GRCm39) |
Y92* |
probably null |
Het |
Mycbp2 |
A |
T |
14: 103,551,806 (GRCm39) |
S175T |
probably benign |
Het |
Nacad |
A |
G |
11: 6,549,374 (GRCm39) |
|
probably null |
Het |
Ndnf |
T |
G |
6: 65,680,502 (GRCm39) |
D260E |
probably benign |
Het |
Nphp1 |
G |
A |
2: 127,595,951 (GRCm39) |
Q505* |
probably null |
Het |
Or12e7 |
C |
A |
2: 87,287,719 (GRCm39) |
A70E |
probably damaging |
Het |
Or8g29-ps1 |
A |
G |
9: 39,200,970 (GRCm39) |
V72A |
possibly damaging |
Het |
Plcg1 |
G |
A |
2: 160,573,780 (GRCm39) |
G15D |
probably benign |
Het |
Ppm1h |
A |
G |
10: 122,638,165 (GRCm39) |
Y145C |
probably damaging |
Het |
Prickle2 |
C |
T |
6: 92,399,319 (GRCm39) |
C186Y |
probably damaging |
Het |
Prmt6 |
A |
C |
3: 110,157,359 (GRCm39) |
L310R |
probably damaging |
Het |
Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
Sapcd1 |
A |
G |
17: 35,245,400 (GRCm39) |
S128P |
probably benign |
Het |
Scart2 |
T |
A |
7: 139,841,544 (GRCm39) |
|
probably null |
Het |
Sema3b |
T |
C |
9: 107,478,784 (GRCm39) |
S331G |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Skil |
A |
G |
3: 31,151,544 (GRCm39) |
E22G |
probably benign |
Het |
Slc13a1 |
T |
C |
6: 24,134,407 (GRCm39) |
I159V |
probably benign |
Het |
Slc44a4 |
A |
G |
17: 35,136,331 (GRCm39) |
I41V |
probably benign |
Het |
Taar2 |
T |
C |
10: 23,817,038 (GRCm39) |
F193L |
probably damaging |
Het |
Taar8a |
A |
G |
10: 23,952,995 (GRCm39) |
I200V |
probably benign |
Het |
Trpc4 |
A |
G |
3: 54,223,215 (GRCm39) |
Y717C |
probably damaging |
Het |
Vmn2r116 |
A |
T |
17: 23,620,065 (GRCm39) |
T600S |
probably damaging |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp318 |
A |
G |
17: 46,722,055 (GRCm39) |
T1353A |
probably damaging |
Het |
Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCATTTGAGGCTAACAACAC -3'
(R):5'- CAAATGTGAGTGCTGAATGTTAGTG -3'
Sequencing Primer
(F):5'- TTGAGGCTAACAACACTTTGAAG -3'
(R):5'- GTGCTGAATGTTAGTGTAAAATGCC -3'
|
Posted On |
2022-11-14 |