Incidental Mutation 'R8188:Cfhr4'
| ID |
634951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| MMRRC Submission |
067611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139625868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 869
(I869F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
| AlphaFold |
E9Q8B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027612
AA Change: I798F
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: I798F
| 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 |
possibly damaging
Transcript: ENSMUST00000111986
AA Change: I810F
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: I810F
| 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: I869F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: I869F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
G |
4: 40,180,284 (GRCm39) |
A395G |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,741,503 (GRCm39) |
C380Y |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,977,418 (GRCm39) |
T422A |
unknown |
Het |
| Baz1b |
G |
T |
5: 135,233,916 (GRCm39) |
V148F |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,451,854 (GRCm39) |
S823R |
probably damaging |
Het |
| Bltp3b |
C |
T |
10: 89,647,928 (GRCm39) |
T1330M |
possibly damaging |
Het |
| Blvra |
A |
C |
2: 126,937,047 (GRCm39) |
S167R |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,225,132 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,228,623 (GRCm39) |
S650P |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,993 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cdh2 |
A |
G |
18: 16,781,593 (GRCm39) |
I166T |
probably damaging |
Het |
| Cdnf |
T |
C |
2: 3,514,228 (GRCm39) |
V22A |
probably benign |
Het |
| Chd2 |
T |
A |
7: 73,079,504 (GRCm39) |
K1799* |
probably null |
Het |
| Col20a1 |
G |
A |
2: 180,658,126 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
C |
4: 115,426,943 (GRCm39) |
I182T |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,543 (GRCm39) |
F25L |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,943,928 (GRCm39) |
Y241F |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,814,029 (GRCm39) |
I662V |
possibly damaging |
Het |
| Dzip3 |
T |
C |
16: 48,772,499 (GRCm39) |
D390G |
probably damaging |
Het |
| Eif1 |
A |
G |
11: 100,211,624 (GRCm39) |
D55G |
probably benign |
Het |
| Exosc5 |
T |
A |
7: 25,358,790 (GRCm39) |
S44T |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,163,997 (GRCm39) |
V3086A |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,730,665 (GRCm39) |
|
probably null |
Het |
| Gcg |
T |
C |
2: 62,309,004 (GRCm39) |
D50G |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,763,537 (GRCm39) |
|
probably null |
Het |
| Hfe |
A |
G |
13: 23,892,175 (GRCm39) |
V63A |
probably damaging |
Het |
| Hoxd11 |
T |
A |
2: 74,514,298 (GRCm39) |
I276N |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,919,287 (GRCm39) |
S13P |
probably benign |
Het |
| Il12a |
T |
A |
3: 68,598,872 (GRCm39) |
C18S |
unknown |
Het |
| Itk |
G |
T |
11: 46,222,776 (GRCm39) |
Y564* |
probably null |
Het |
| Lrrc46 |
A |
T |
11: 96,931,705 (GRCm39) |
L39Q |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,507,231 (GRCm39) |
L537Q |
probably damaging |
Het |
| Nrap |
A |
C |
19: 56,325,010 (GRCm39) |
Y1234* |
probably null |
Het |
| Or51q1 |
T |
C |
7: 103,628,743 (GRCm39) |
S121P |
probably damaging |
Het |
| Or8b9 |
A |
T |
9: 37,766,407 (GRCm39) |
M98L |
probably benign |
Het |
| Parn |
T |
C |
16: 13,359,020 (GRCm39) |
D574G |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,789,773 (GRCm39) |
I807V |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,725,193 (GRCm39) |
S1350R |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,826,126 (GRCm39) |
H289R |
unknown |
Het |
| Plaa |
T |
C |
4: 94,474,586 (GRCm39) |
Q272R |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,594,292 (GRCm39) |
I174N |
probably benign |
Het |
| Ripk2 |
T |
A |
4: 16,139,218 (GRCm39) |
K226N |
probably damaging |
Het |
| Scgb1b2 |
T |
C |
7: 30,990,946 (GRCm39) |
D54G |
possibly damaging |
Het |
| Slc45a4 |
T |
C |
15: 73,456,383 (GRCm39) |
Y599C |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,082 (GRCm39) |
V94A |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,972,579 (GRCm39) |
F281L |
probably benign |
Het |
| Slco4c1 |
T |
A |
1: 96,772,261 (GRCm39) |
T243S |
probably damaging |
Het |
| Smim30 |
C |
T |
6: 13,870,541 (GRCm39) |
G57E |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,692,262 (GRCm39) |
I174T |
probably damaging |
Het |
| Styk1 |
C |
A |
6: 131,281,848 (GRCm39) |
V257L |
probably benign |
Het |
| Tmem268 |
T |
C |
4: 63,498,209 (GRCm39) |
F210L |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,562,297 (GRCm39) |
L464* |
probably null |
Het |
| Zfhx2 |
A |
T |
14: 55,301,898 (GRCm39) |
S2029T |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,841,296 (GRCm39) |
F572I |
probably damaging |
Het |
| Zfp280d |
T |
C |
9: 72,267,615 (GRCm39) |
I766T |
probably benign |
Het |
| Zfr |
T |
G |
15: 12,171,904 (GRCm39) |
C933W |
probably damaging |
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 |
|
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 |
|
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'- CCTTGGACATATAATGGTTTGGATTAG -3'
(R):5'- CGTCTATTGAGATAAGTTAACTGCAG -3'
Sequencing Primer
(F):5'- AGGAGTTTTGAATGTACTGCATTTGC -3'
(R):5'- AATTTGGTAATTTTTCCTTCAGATGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation