Incidental Mutation 'R6043:Cfhr1'
ID |
483642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr1
|
Ensembl Gene |
ENSMUSG00000057037 |
Gene Name |
complement factor H-related 1 |
Synonyms |
Cfhl1 |
MMRRC Submission |
044211-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6043 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 139478606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 255
(T255S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
AlphaFold |
Q61406 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023965
AA Change: T255S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000023965 Gene: ENSMUSG00000057037 AA Change: T255S
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: T74S
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts4 |
T |
C |
1: 171,080,170 (GRCm39) |
F44S |
probably damaging |
Het |
Ap3b1 |
A |
T |
13: 94,613,501 (GRCm39) |
T667S |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,819,937 (GRCm39) |
Y1516C |
probably benign |
Het |
Ccl17 |
A |
G |
8: 95,537,100 (GRCm39) |
M1V |
probably null |
Het |
Clcn6 |
T |
C |
4: 148,093,245 (GRCm39) |
N812D |
probably damaging |
Het |
Cyp2b10 |
T |
C |
7: 25,616,764 (GRCm39) |
F402L |
probably damaging |
Het |
Dgkz |
A |
C |
2: 91,766,234 (GRCm39) |
S776A |
probably benign |
Het |
Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,878,924 (GRCm39) |
G2728S |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,178,949 (GRCm39) |
M874K |
probably benign |
Het |
Eef1akmt3 |
A |
T |
10: 126,869,147 (GRCm39) |
L109Q |
probably damaging |
Het |
Egf |
A |
G |
3: 129,530,434 (GRCm39) |
S243P |
probably benign |
Het |
Fbxw21 |
T |
C |
9: 108,974,607 (GRCm39) |
I304M |
possibly damaging |
Het |
Fcgr4 |
T |
C |
1: 170,847,699 (GRCm39) |
V99A |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,356,193 (GRCm39) |
E417G |
probably damaging |
Het |
Flnc |
G |
T |
6: 29,446,607 (GRCm39) |
G939V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,315,436 (GRCm39) |
M1173V |
probably benign |
Het |
Hspa2 |
C |
T |
12: 76,453,096 (GRCm39) |
H597Y |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,870,212 (GRCm39) |
T64I |
probably benign |
Het |
Kif16b |
A |
G |
2: 142,553,820 (GRCm39) |
S993P |
probably damaging |
Het |
Kitl |
T |
A |
10: 99,899,947 (GRCm39) |
V84E |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,849,150 (GRCm39) |
|
probably null |
Het |
Map2k3 |
A |
G |
11: 60,837,572 (GRCm39) |
D224G |
probably benign |
Het |
Medag |
T |
G |
5: 149,345,672 (GRCm39) |
F4V |
probably benign |
Het |
Mob3b |
C |
T |
4: 34,985,993 (GRCm39) |
V182I |
probably benign |
Het |
Mvb12b |
G |
T |
2: 33,764,402 (GRCm39) |
T49K |
probably damaging |
Het |
Naaladl2 |
A |
G |
3: 24,112,378 (GRCm39) |
V568A |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,693,896 (GRCm39) |
E2174G |
probably benign |
Het |
Nmd3 |
T |
C |
3: 69,652,580 (GRCm39) |
Y389H |
probably benign |
Het |
Or13g1 |
A |
G |
7: 85,955,547 (GRCm39) |
I258T |
probably damaging |
Het |
Or4p19 |
C |
T |
2: 88,242,589 (GRCm39) |
E138K |
probably benign |
Het |
Pcare |
T |
C |
17: 72,057,037 (GRCm39) |
D880G |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,336,327 (GRCm39) |
N103Y |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,781,815 (GRCm39) |
D1905G |
possibly damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,667 (GRCm39) |
F619S |
probably damaging |
Het |
Ptdss1 |
T |
A |
13: 67,111,433 (GRCm39) |
D166E |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,927 (GRCm39) |
V2713A |
probably damaging |
Het |
Sema4f |
T |
C |
6: 82,896,634 (GRCm39) |
N200D |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,973,837 (GRCm39) |
N472K |
probably damaging |
Het |
Trav6n-5 |
T |
C |
14: 53,342,608 (GRCm39) |
Y49H |
probably benign |
Het |
Trbv2 |
A |
G |
6: 41,024,904 (GRCm39) |
T107A |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,643,933 (GRCm39) |
N1177S |
possibly damaging |
Het |
Vmn1r212 |
A |
G |
13: 23,068,258 (GRCm39) |
V25A |
probably damaging |
Het |
Zfhx4 |
T |
G |
3: 5,468,487 (GRCm39) |
S2882A |
probably benign |
Het |
Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCACTGAAGCACTGATC -3'
(R):5'- TTTGACCCTATCAGAAACCCAG -3'
Sequencing Primer
(F):5'- GCACTGAAGCACTGATCAAACAATAC -3'
(R):5'- GAAAGCCTCATAAGCATTCTTTAGC -3'
|
Posted On |
2017-07-14 |