Incidental Mutation 'IGL01924:Cfhr4'
| ID |
180216 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL01924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139666944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 444
(L444F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
| AlphaFold |
E9Q8B5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027612
AA Change: L443F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: L443F
| 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: L444F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: L444F
| 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: L444F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: L444F
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
| Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
| B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
| Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,283,887 (GRCm39) |
|
probably benign |
Het |
| Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
| Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
| Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
| Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
| Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
| Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
| Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
| Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,169 (GRCm39) |
F209L |
possibly damaging |
Het |
| Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
| Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
| Nlrp4e |
T |
A |
7: 23,020,255 (GRCm39) |
C247* |
probably null |
Het |
| Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
| Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
| Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
| Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
| Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
| Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
| Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
| Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
| Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
| Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
| Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
| Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
| Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
| Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
| Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
| Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation