Incidental Mutation 'R4867:Cfhr4'
ID |
376197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfhr4
|
Ensembl Gene |
ENSMUSG00000070594 |
Gene Name |
complement factor H-related 4 |
Synonyms |
Gm4788 |
MMRRC Submission |
042477-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4867 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 139702213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107620
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
AlphaFold |
E9Q8B5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027612
|
SMART Domains |
Protein: ENSMUSP00000027612 Gene: ENSMUSG00000070594
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 null
Transcript: ENSMUST00000111986
|
SMART Domains |
Protein: ENSMUSP00000107617 Gene: ENSMUSG00000070594
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 null
Transcript: ENSMUST00000111989
|
SMART Domains |
Protein: ENSMUSP00000107620 Gene: ENSMUSG00000070594
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
T |
C |
8: 125,366,099 (GRCm39) |
I215V |
probably damaging |
Het |
4921509C19Rik |
A |
T |
2: 151,314,742 (GRCm39) |
L312* |
probably null |
Het |
9930111J21Rik1 |
T |
A |
11: 48,839,375 (GRCm39) |
|
probably null |
Het |
Abca6 |
C |
A |
11: 110,093,205 (GRCm39) |
V1023F |
probably benign |
Het |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Acsbg2 |
A |
G |
17: 57,169,914 (GRCm39) |
I151T |
possibly damaging |
Het |
Arid1a |
G |
A |
4: 133,448,168 (GRCm39) |
S115L |
probably benign |
Het |
B4galnt2 |
T |
C |
11: 95,759,252 (GRCm39) |
D344G |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,122,614 (GRCm39) |
S139P |
probably benign |
Het |
Ccnjl |
T |
C |
11: 43,474,055 (GRCm39) |
V210A |
possibly damaging |
Het |
Cdk5rap1 |
C |
T |
2: 154,212,876 (GRCm39) |
|
probably null |
Het |
Cog4 |
T |
C |
8: 111,593,242 (GRCm39) |
V451A |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,170,752 (GRCm39) |
N818K |
probably damaging |
Het |
Crtc1 |
T |
C |
8: 70,855,164 (GRCm39) |
D152G |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,768,323 (GRCm39) |
I207N |
possibly damaging |
Het |
Cux1 |
TGGCAGGCGCG |
TG |
5: 136,303,815 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,947,235 (GRCm39) |
Y272C |
possibly damaging |
Het |
Cyp4f16 |
T |
C |
17: 32,769,724 (GRCm39) |
F445L |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,051,799 (GRCm39) |
H644R |
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,684,821 (GRCm39) |
I643F |
probably damaging |
Het |
Eogt |
A |
T |
6: 97,097,108 (GRCm39) |
|
probably benign |
Het |
Fbxo41 |
A |
C |
6: 85,452,176 (GRCm39) |
S777A |
probably benign |
Het |
Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,271,250 (GRCm39) |
V897D |
probably damaging |
Het |
Fmn1 |
G |
T |
2: 113,414,465 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
C |
8: 81,339,912 (GRCm39) |
L735P |
probably damaging |
Het |
Ftmt |
A |
T |
18: 52,465,125 (GRCm39) |
D147V |
possibly damaging |
Het |
Gabpa |
T |
A |
16: 84,654,356 (GRCm39) |
D344E |
probably benign |
Het |
Gtf3a |
C |
T |
5: 146,888,723 (GRCm39) |
Q145* |
probably null |
Het |
Il36rn |
A |
T |
2: 24,170,847 (GRCm39) |
N48I |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,017,226 (GRCm39) |
L403S |
probably benign |
Het |
Jrk |
C |
T |
15: 74,579,069 (GRCm39) |
R72Q |
probably benign |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Krt12 |
T |
C |
11: 99,307,789 (GRCm39) |
D433G |
possibly damaging |
Het |
Lce1h |
A |
T |
3: 92,670,770 (GRCm39) |
S127R |
unknown |
Het |
Lrrc7 |
T |
G |
3: 157,866,642 (GRCm39) |
Y1033S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,993 (GRCm39) |
S1358P |
probably damaging |
Het |
Mfsd1 |
T |
A |
3: 67,495,320 (GRCm39) |
|
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,585 (GRCm39) |
T1150A |
probably damaging |
Het |
Nadk2 |
A |
G |
15: 9,098,946 (GRCm39) |
I291M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,955,491 (GRCm39) |
T277A |
probably benign |
Het |
Or1j12 |
A |
C |
2: 36,343,211 (GRCm39) |
M205L |
probably benign |
Het |
Or2r2 |
A |
G |
6: 42,464,031 (GRCm39) |
V32A |
probably benign |
Het |
Or6e1 |
T |
A |
14: 54,520,086 (GRCm39) |
T89S |
probably benign |
Het |
Or7g17 |
A |
T |
9: 18,768,862 (GRCm39) |
I305F |
probably benign |
Het |
Parp14 |
T |
A |
16: 35,677,697 (GRCm39) |
Y757F |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,113 (GRCm39) |
Y734C |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,620,726 (GRCm39) |
S849P |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,801,463 (GRCm39) |
K595E |
probably damaging |
Het |
Prkg2 |
T |
A |
5: 99,172,568 (GRCm39) |
Y49F |
probably benign |
Het |
Prr5 |
G |
T |
15: 84,624,967 (GRCm39) |
L46F |
probably benign |
Het |
Ptgdr |
G |
T |
14: 45,096,253 (GRCm39) |
P153Q |
probably damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,094,805 (GRCm39) |
S555P |
probably damaging |
Het |
Rhog |
T |
G |
7: 101,889,357 (GRCm39) |
Y32S |
probably damaging |
Het |
Rnf141 |
T |
C |
7: 110,415,975 (GRCm39) |
T209A |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,837,757 (GRCm39) |
I103T |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,379,737 (GRCm39) |
C182* |
probably null |
Het |
Sema3a |
A |
G |
5: 13,501,208 (GRCm39) |
N84D |
probably benign |
Het |
Sema5a |
G |
T |
15: 32,550,436 (GRCm39) |
M158I |
possibly damaging |
Het |
Shprh |
T |
A |
10: 11,040,301 (GRCm39) |
D71E |
probably benign |
Het |
Slc26a8 |
A |
G |
17: 28,882,608 (GRCm39) |
I239T |
probably benign |
Het |
Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
Ston1 |
C |
T |
17: 88,943,122 (GRCm39) |
A176V |
probably damaging |
Het |
Sult2a5 |
T |
C |
7: 13,357,976 (GRCm39) |
S3P |
probably benign |
Het |
Tango6 |
T |
A |
8: 107,545,158 (GRCm39) |
V1007E |
probably damaging |
Het |
Tank |
G |
A |
2: 61,408,979 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,732,156 (GRCm39) |
Y155C |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,688,856 (GRCm39) |
R2244W |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,668,868 (GRCm39) |
I1130T |
possibly damaging |
Het |
Tlk1 |
A |
T |
2: 70,551,915 (GRCm39) |
Y585* |
probably null |
Het |
Tmem221 |
C |
T |
8: 72,007,784 (GRCm39) |
E214K |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,335,077 (GRCm39) |
V172A |
possibly damaging |
Het |
Tspo2 |
C |
T |
17: 48,755,705 (GRCm39) |
A146T |
possibly damaging |
Het |
Ttc3 |
G |
A |
16: 94,255,374 (GRCm39) |
A1268T |
probably damaging |
Het |
Usp25 |
T |
A |
16: 76,847,355 (GRCm39) |
D154E |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,401,999 (GRCm39) |
F2410L |
probably benign |
Het |
Vmn1r128 |
T |
A |
7: 21,083,939 (GRCm39) |
H214Q |
possibly damaging |
Het |
Vmn1r24 |
A |
C |
6: 57,933,421 (GRCm39) |
C32W |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,855 (GRCm39) |
H177L |
probably damaging |
Het |
Znrf1 |
T |
C |
8: 112,264,198 (GRCm39) |
|
probably null |
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 |
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 |
R5259:Cfhr4
|
UTSW |
1 |
139,668,233 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCTGTTTAATGAGCATGCATTG -3'
(R):5'- CCACAATTCAAATATGGACGTCTG -3'
Sequencing Primer
(F):5'- GAGATAAAGGCATTTCCATAGTCCC -3'
(R):5'- GGACGTCTGTATTATGAAGAGATCC -3'
|
Posted On |
2016-03-17 |