Incidental Mutation 'R0681:Cfhr1'
| ID |
60952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr1
|
| Ensembl Gene |
ENSMUSG00000057037 |
| Gene Name |
complement factor H-related 1 |
| Synonyms |
Cfhl1 |
| MMRRC Submission |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139474802-139487960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139485249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 66
(S66T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023965]
|
| AlphaFold |
Q61406 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023965
AA Change: S66T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: S66T
| 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
|
| Meta Mutation Damage Score |
0.1740 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAACTCTGTGATTTTCCAGACACC -3'
(R):5'- TGGCTTTGCCTATTGGAACTCCAC -3'
Sequencing Primer
(F):5'- GTGATTTTCCAGACACCAGTTTC -3'
(R):5'- TTCATAGCCAGGGACATCACTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation