Incidental Mutation 'R5259:Cfhr4'
ID |
401281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr4
|
Ensembl Gene |
ENSMUSG00000070594 |
Gene Name |
complement factor H-related 4 |
Synonyms |
Gm4788 |
MMRRC Submission |
042856-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5259 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 139668233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 300
(C300Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
AlphaFold |
E9Q8B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027612
AA Change: C300Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027612 Gene: ENSMUSG00000070594 AA Change: C300Y
Domain | Start | End | E-Value | Type |
CCP
|
28 |
88 |
1.65e-2 |
SMART |
CCP
|
92 |
145 |
1.15e-10 |
SMART |
CCP
|
151 |
208 |
5.65e-10 |
SMART |
CCP
|
212 |
267 |
1.12e-4 |
SMART |
CCP
|
272 |
325 |
4.52e-9 |
SMART |
CCP
|
332 |
386 |
9.1e-14 |
SMART |
CCP
|
393 |
446 |
1.58e-13 |
SMART |
CCP
|
455 |
505 |
4.92e-1 |
SMART |
CCP
|
511 |
564 |
8.9e-8 |
SMART |
CCP
|
569 |
622 |
4.18e-13 |
SMART |
CCP
|
627 |
681 |
3.5e-15 |
SMART |
CCP
|
688 |
742 |
5.69e-15 |
SMART |
CCP
|
746 |
807 |
2.77e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111986
AA Change: C300Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107617 Gene: ENSMUSG00000070594 AA Change: C300Y
Domain | Start | End | E-Value | Type |
CCP
|
28 |
88 |
1.65e-2 |
SMART |
CCP
|
92 |
145 |
1.15e-10 |
SMART |
CCP
|
151 |
208 |
5.65e-10 |
SMART |
CCP
|
212 |
267 |
1.12e-4 |
SMART |
CCP
|
272 |
325 |
4.52e-9 |
SMART |
CCP
|
333 |
387 |
9.1e-14 |
SMART |
CCP
|
394 |
447 |
1.58e-13 |
SMART |
CCP
|
456 |
506 |
4.92e-1 |
SMART |
CCP
|
512 |
565 |
8.9e-8 |
SMART |
CCP
|
571 |
635 |
2.66e-6 |
SMART |
CCP
|
640 |
693 |
4.18e-13 |
SMART |
CCP
|
700 |
754 |
5.69e-15 |
SMART |
CCP
|
758 |
819 |
2.77e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111989
AA Change: C300Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107620 Gene: ENSMUSG00000070594 AA Change: C300Y
Domain | Start | End | E-Value | Type |
CCP
|
28 |
88 |
1.65e-2 |
SMART |
CCP
|
92 |
145 |
1.15e-10 |
SMART |
CCP
|
151 |
208 |
5.65e-10 |
SMART |
CCP
|
212 |
267 |
1.12e-4 |
SMART |
CCP
|
272 |
325 |
4.52e-9 |
SMART |
CCP
|
333 |
387 |
9.1e-14 |
SMART |
CCP
|
394 |
447 |
1.58e-13 |
SMART |
CCP
|
456 |
506 |
4.92e-1 |
SMART |
CCP
|
512 |
565 |
8.9e-8 |
SMART |
CCP
|
571 |
635 |
2.66e-6 |
SMART |
CCP
|
640 |
693 |
4.18e-13 |
SMART |
CCP
|
698 |
752 |
3.5e-15 |
SMART |
CCP
|
759 |
813 |
5.69e-15 |
SMART |
CCP
|
817 |
878 |
2.77e0 |
SMART |
|
Meta Mutation Damage Score |
0.8958 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
C |
3: 40,871,325 (GRCm39) |
T50P |
probably damaging |
Het |
Adam5 |
T |
A |
8: 25,300,850 (GRCm39) |
L226F |
possibly damaging |
Het |
Adi1 |
T |
C |
12: 28,725,544 (GRCm39) |
|
probably benign |
Het |
Apc |
T |
C |
18: 34,447,343 (GRCm39) |
V1379A |
probably benign |
Het |
Atp13a4 |
G |
A |
16: 29,275,428 (GRCm39) |
T352M |
probably damaging |
Het |
Baat |
T |
A |
4: 49,490,070 (GRCm39) |
N338I |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,327 (GRCm39) |
T234A |
probably benign |
Het |
Catsperd |
A |
C |
17: 56,967,235 (GRCm39) |
T539P |
possibly damaging |
Het |
Cd109 |
A |
T |
9: 78,617,434 (GRCm39) |
T1311S |
probably benign |
Het |
Ceacam18 |
T |
C |
7: 43,286,536 (GRCm39) |
|
probably null |
Het |
Cfap96 |
T |
C |
8: 46,415,373 (GRCm39) |
E211G |
probably benign |
Het |
Chsy3 |
T |
A |
18: 59,543,318 (GRCm39) |
S819T |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,431,614 (GRCm39) |
R1557S |
unknown |
Het |
Ddx18 |
A |
G |
1: 121,495,518 (GRCm39) |
|
probably null |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Fam13c |
C |
G |
10: 70,276,893 (GRCm39) |
A17G |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,748,685 (GRCm39) |
Y646C |
probably damaging |
Het |
Fra10ac1 |
A |
G |
19: 38,188,110 (GRCm39) |
S229P |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,845 (GRCm39) |
H23Q |
probably benign |
Het |
Gdf2 |
T |
C |
14: 33,666,788 (GRCm39) |
V170A |
probably benign |
Het |
Gm15723 |
T |
C |
10: 114,652,722 (GRCm39) |
|
noncoding transcript |
Het |
Gm815 |
G |
A |
19: 26,863,806 (GRCm39) |
V16I |
unknown |
Het |
Ighv1-75 |
T |
A |
12: 115,797,797 (GRCm39) |
K42* |
probably null |
Het |
Isx |
A |
G |
8: 75,619,473 (GRCm39) |
T222A |
probably benign |
Het |
Itgax |
G |
A |
7: 127,747,450 (GRCm39) |
D1018N |
probably damaging |
Het |
Kcnc4 |
A |
G |
3: 107,355,401 (GRCm39) |
F349S |
probably damaging |
Het |
Lama3 |
A |
C |
18: 12,598,565 (GRCm39) |
S991R |
probably damaging |
Het |
Larp4b |
C |
T |
13: 9,208,220 (GRCm39) |
A398V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,357 (GRCm39) |
N1466S |
probably benign |
Het |
Metrn |
A |
T |
17: 26,015,514 (GRCm39) |
L67Q |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,451,132 (GRCm39) |
R937Q |
probably benign |
Het |
Mta3 |
A |
G |
17: 84,112,003 (GRCm39) |
Y577C |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,753,063 (GRCm39) |
F308L |
possibly damaging |
Het |
Nat8 |
A |
T |
6: 85,807,873 (GRCm39) |
S87T |
probably benign |
Het |
Oplah |
A |
T |
15: 76,185,410 (GRCm39) |
|
probably null |
Het |
Or2ak6 |
A |
G |
11: 58,592,778 (GRCm39) |
N84D |
probably benign |
Het |
Or2ak6 |
A |
C |
11: 58,592,779 (GRCm39) |
N84T |
possibly damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,109 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,232,204 (GRCm39) |
I668L |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,316,444 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,493,956 (GRCm39) |
E220G |
possibly damaging |
Het |
Pnma8b |
A |
G |
7: 16,679,199 (GRCm39) |
K61R |
unknown |
Het |
Prl8a6 |
C |
T |
13: 27,620,179 (GRCm39) |
W81* |
probably null |
Het |
Rab33b |
C |
T |
3: 51,392,033 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,557,772 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,649,101 (GRCm39) |
S747G |
probably benign |
Het |
Reln |
C |
T |
5: 22,308,395 (GRCm39) |
V325M |
possibly damaging |
Het |
Rheb |
A |
C |
5: 25,008,743 (GRCm39) |
D158E |
probably benign |
Het |
Rhebl1 |
T |
A |
15: 98,778,464 (GRCm39) |
|
probably benign |
Het |
Rmdn2 |
T |
A |
17: 79,975,446 (GRCm39) |
Y312N |
probably damaging |
Het |
Scamp1 |
T |
G |
13: 94,368,594 (GRCm39) |
N58T |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,584,598 (GRCm39) |
C437* |
probably null |
Het |
Slc35a1 |
C |
T |
4: 34,683,322 (GRCm39) |
V53M |
probably benign |
Het |
Slc35f3 |
A |
T |
8: 127,115,872 (GRCm39) |
L266F |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,344,471 (GRCm39) |
S1445R |
probably benign |
Het |
Ttc23l |
T |
C |
15: 10,515,236 (GRCm39) |
N381D |
probably damaging |
Het |
Usp17ld |
T |
A |
7: 102,899,781 (GRCm39) |
K384* |
probably null |
Het |
Vmn1r20 |
T |
A |
6: 57,409,050 (GRCm39) |
Y125* |
probably null |
Het |
Zfp738 |
G |
T |
13: 67,817,805 (GRCm39) |
Q729K |
probably benign |
Het |
Zfp770 |
T |
A |
2: 114,027,674 (GRCm39) |
M132L |
probably benign |
Het |
|
Other mutations in Cfhr4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00906:Cfhr4
|
APN |
1 |
139,659,312 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01088:Cfhr4
|
APN |
1 |
139,625,823 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01419:Cfhr4
|
APN |
1 |
139,667,382 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01552:Cfhr4
|
APN |
1 |
139,667,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Cfhr4
|
APN |
1 |
139,666,944 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02032:Cfhr4
|
APN |
1 |
139,702,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02254:Cfhr4
|
APN |
1 |
139,661,143 (GRCm39) |
splice site |
probably benign |
|
IGL02318:Cfhr4
|
APN |
1 |
139,708,835 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02527:Cfhr4
|
APN |
1 |
139,680,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02531:Cfhr4
|
APN |
1 |
139,702,307 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02587:Cfhr4
|
APN |
1 |
139,629,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02644:Cfhr4
|
APN |
1 |
139,708,905 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
IGL02852:Cfhr4
|
APN |
1 |
139,701,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02963:Cfhr4
|
APN |
1 |
139,659,334 (GRCm39) |
nonsense |
probably null |
|
IGL03084:Cfhr4
|
APN |
1 |
139,708,880 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0131:Cfhr4
|
UTSW |
1 |
139,682,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R0131:Cfhr4
|
UTSW |
1 |
139,682,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R0132:Cfhr4
|
UTSW |
1 |
139,682,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R0549:Cfhr4
|
UTSW |
1 |
139,667,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Cfhr4
|
UTSW |
1 |
139,667,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R0610:Cfhr4
|
UTSW |
1 |
139,629,584 (GRCm39) |
missense |
probably benign |
0.20 |
R1341:Cfhr4
|
UTSW |
1 |
139,660,131 (GRCm39) |
missense |
probably damaging |
0.98 |
R1460:Cfhr4
|
UTSW |
1 |
139,625,934 (GRCm39) |
missense |
probably damaging |
0.99 |
R1544:Cfhr4
|
UTSW |
1 |
139,664,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Cfhr4
|
UTSW |
1 |
139,702,398 (GRCm39) |
missense |
probably damaging |
0.97 |
R2032:Cfhr4
|
UTSW |
1 |
139,660,993 (GRCm39) |
splice site |
probably benign |
|
R2111:Cfhr4
|
UTSW |
1 |
139,702,417 (GRCm39) |
splice site |
probably benign |
|
R2179:Cfhr4
|
UTSW |
1 |
139,659,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R3806:Cfhr4
|
UTSW |
1 |
139,680,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Cfhr4
|
UTSW |
1 |
139,660,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R4747:Cfhr4
|
UTSW |
1 |
139,625,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4838:Cfhr4
|
UTSW |
1 |
139,661,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4867:Cfhr4
|
UTSW |
1 |
139,702,213 (GRCm39) |
critical splice donor site |
probably null |
|
R4910:Cfhr4
|
UTSW |
1 |
139,702,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Cfhr4
|
UTSW |
1 |
139,702,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R5050:Cfhr4
|
UTSW |
1 |
139,664,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R5120:Cfhr4
|
UTSW |
1 |
139,680,841 (GRCm39) |
missense |
probably benign |
0.39 |
R5504:Cfhr4
|
UTSW |
1 |
139,629,558 (GRCm39) |
missense |
probably benign |
0.18 |
R5825:Cfhr4
|
UTSW |
1 |
139,702,336 (GRCm39) |
splice site |
probably null |
|
R5949:Cfhr4
|
UTSW |
1 |
139,660,887 (GRCm39) |
missense |
probably damaging |
0.98 |
R6140:Cfhr4
|
UTSW |
1 |
139,660,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Cfhr4
|
UTSW |
1 |
139,682,073 (GRCm39) |
missense |
probably damaging |
0.97 |
R6254:Cfhr4
|
UTSW |
1 |
139,682,128 (GRCm39) |
missense |
probably damaging |
0.98 |
R6255:Cfhr4
|
UTSW |
1 |
139,680,749 (GRCm39) |
nonsense |
probably null |
|
R6334:Cfhr4
|
UTSW |
1 |
139,701,662 (GRCm39) |
splice site |
probably null |
|
R6611:Cfhr4
|
UTSW |
1 |
139,660,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R6798:Cfhr4
|
UTSW |
1 |
139,625,859 (GRCm39) |
missense |
probably benign |
0.20 |
R6800:Cfhr4
|
UTSW |
1 |
139,629,719 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6895:Cfhr4
|
UTSW |
1 |
139,668,210 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6904:Cfhr4
|
UTSW |
1 |
139,659,391 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6994:Cfhr4
|
UTSW |
1 |
139,664,668 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7173:Cfhr4
|
UTSW |
1 |
139,659,415 (GRCm39) |
nonsense |
probably null |
|
R7184:Cfhr4
|
UTSW |
1 |
139,660,822 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7192:Cfhr4
|
UTSW |
1 |
139,667,033 (GRCm39) |
missense |
probably damaging |
0.96 |
R7205:Cfhr4
|
UTSW |
1 |
139,680,788 (GRCm39) |
nonsense |
probably null |
|
R7302:Cfhr4
|
UTSW |
1 |
139,667,436 (GRCm39) |
splice site |
probably null |
|
R7308:Cfhr4
|
UTSW |
1 |
139,682,041 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7735:Cfhr4
|
UTSW |
1 |
139,660,039 (GRCm39) |
critical splice donor site |
probably null |
|
R8006:Cfhr4
|
UTSW |
1 |
139,664,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R8045:Cfhr4
|
UTSW |
1 |
139,661,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R8188:Cfhr4
|
UTSW |
1 |
139,625,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R8339:Cfhr4
|
UTSW |
1 |
139,660,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9156:Cfhr4
|
UTSW |
1 |
139,660,085 (GRCm39) |
missense |
probably damaging |
0.96 |
R9339:Cfhr4
|
UTSW |
1 |
139,682,044 (GRCm39) |
missense |
probably benign |
0.26 |
R9520:Cfhr4
|
UTSW |
1 |
139,682,135 (GRCm39) |
missense |
probably damaging |
0.99 |
R9525:Cfhr4
|
UTSW |
1 |
139,702,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9554:Cfhr4
|
UTSW |
1 |
139,668,169 (GRCm39) |
missense |
probably benign |
0.04 |
R9635:Cfhr4
|
UTSW |
1 |
139,701,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R9669:Cfhr4
|
UTSW |
1 |
139,708,872 (GRCm39) |
missense |
probably damaging |
0.96 |
R9737:Cfhr4
|
UTSW |
1 |
139,708,872 (GRCm39) |
missense |
probably damaging |
0.96 |
X0009:Cfhr4
|
UTSW |
1 |
139,661,287 (GRCm39) |
missense |
probably benign |
0.08 |
X0024:Cfhr4
|
UTSW |
1 |
139,661,247 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Cfhr4
|
UTSW |
1 |
139,681,999 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Cfhr4
|
UTSW |
1 |
139,661,186 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cfhr4
|
UTSW |
1 |
139,625,994 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTGTGTATTGGTCACATAAAAC -3'
(R):5'- AGCTTTCCTGTGAATGTACTTGAG -3'
Sequencing Primer
(F):5'- CATGGATGTCAATTTCCCTGAAG -3'
(R):5'- TGCAGCGTTCCCATTCTA -3'
|
Posted On |
2016-07-06 |