Incidental Mutation 'R4681:Cfhr1'
| ID |
350011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr1
|
| Ensembl Gene |
ENSMUSG00000057037 |
| Gene Name |
complement factor H-related 1 |
| Synonyms |
Cfhl1 |
| MMRRC Submission |
042015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4681 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 139478667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 53
(Y53*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
| AlphaFold |
Q61406 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023965
AA Change: Y234*
|
| SMART Domains |
Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: Y234*
| 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 null
Transcript: ENSMUST00000161224
AA Change: Y53*
|
| Meta Mutation Damage Score |
0.9710 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
| Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
| Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
| Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
| C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
| Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
| Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
| Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
| Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
| F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
| Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
| Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
| Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
| S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
| Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
| Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
| Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
| Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
| Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACTGAAGCACTGATCAAAC -3'
(R):5'- GAAAGCCTCATAAGCATTCTTTAGC -3'
Sequencing Primer
(F):5'- GCACTGAAGCACTGATCAAACAATAC -3'
(R):5'- GGGCCATATACTATCAAGTTTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation