Incidental Mutation 'IGL01419:Cfhr4'
| ID |
80360 |
| 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: 0.063)
|
| Stock # |
IGL01419
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 139667382 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 benign
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
T |
2: 25,327,526 (GRCm39) |
T672S |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,321 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,277 (GRCm39) |
E791G |
probably damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,354 (GRCm39) |
R584G |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,052,251 (GRCm39) |
I1218F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,865,233 (GRCm39) |
S52P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,192,351 (GRCm39) |
S462P |
possibly damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,571,040 (GRCm39) |
H202R |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,102,270 (GRCm39) |
S1323P |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,180 (GRCm39) |
K48E |
probably benign |
Het |
| Chuk |
A |
T |
19: 44,085,420 (GRCm39) |
I242K |
probably damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,086 (GRCm39) |
T27A |
probably damaging |
Het |
| D930048N14Rik |
C |
T |
11: 51,545,603 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
A |
T |
2: 104,552,455 (GRCm39) |
Y451N |
possibly damaging |
Het |
| Diaph3 |
C |
A |
14: 87,202,989 (GRCm39) |
G623* |
probably null |
Het |
| Dlc1 |
T |
C |
8: 37,317,371 (GRCm39) |
T435A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,096,816 (GRCm39) |
S575G |
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,210,790 (GRCm39) |
Y407F |
probably benign |
Het |
| Fzd4 |
C |
A |
7: 89,056,943 (GRCm39) |
A330E |
probably damaging |
Het |
| Gm17415 |
A |
G |
1: 93,349,672 (GRCm39) |
|
probably benign |
Het |
| Gnat1 |
C |
T |
9: 107,556,633 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,725,081 (GRCm39) |
Y76C |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,103,939 (GRCm39) |
H1079Y |
probably benign |
Het |
| Helz |
T |
G |
11: 107,577,340 (GRCm39) |
I1897S |
unknown |
Het |
| Hspa12a |
T |
C |
19: 58,816,681 (GRCm39) |
|
probably null |
Het |
| Kcne1 |
G |
T |
16: 92,145,534 (GRCm39) |
F103L |
probably benign |
Het |
| Lrrc20 |
A |
T |
10: 61,383,874 (GRCm39) |
S94C |
probably damaging |
Het |
| Lrrc8a |
A |
G |
2: 30,147,111 (GRCm39) |
T642A |
probably benign |
Het |
| Ly6g5b |
A |
G |
17: 35,333,494 (GRCm39) |
L106P |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,423 (GRCm39) |
S698G |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,900 (GRCm39) |
V334A |
probably benign |
Het |
| Neb |
A |
T |
2: 52,116,545 (GRCm39) |
Y964* |
probably null |
Het |
| Or4c123 |
T |
C |
2: 89,126,689 (GRCm39) |
|
probably benign |
Het |
| Or8k3 |
A |
T |
2: 86,058,973 (GRCm39) |
I114N |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,125,588 (GRCm39) |
F497L |
probably damaging |
Het |
| Pdss1 |
A |
G |
2: 22,825,589 (GRCm39) |
M343V |
possibly damaging |
Het |
| Phactr3 |
C |
T |
2: 177,920,855 (GRCm39) |
T231I |
probably benign |
Het |
| Plekhh2 |
A |
T |
17: 84,890,980 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12c |
A |
C |
7: 4,489,351 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
G |
T |
4: 142,860,218 (GRCm39) |
P1024H |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,448 (GRCm39) |
M1K |
probably null |
Het |
| Prkdc |
C |
A |
16: 15,653,030 (GRCm39) |
P3835Q |
probably damaging |
Het |
| Rps27a |
T |
C |
11: 29,496,353 (GRCm39) |
T87A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,814,723 (GRCm39) |
E683V |
possibly damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,528 (GRCm39) |
L214P |
probably damaging |
Het |
| Sema4g |
A |
G |
19: 44,985,835 (GRCm39) |
S250G |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,281 (GRCm39) |
D498E |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,154,894 (GRCm39) |
D1410G |
probably benign |
Het |
| Tas2r134 |
T |
A |
2: 51,517,759 (GRCm39) |
Y79* |
probably null |
Het |
| Tie1 |
T |
C |
4: 118,333,295 (GRCm39) |
D857G |
probably damaging |
Het |
| Tnk2 |
A |
G |
16: 32,499,498 (GRCm39) |
N432S |
probably damaging |
Het |
| Tubg2 |
C |
A |
11: 101,049,883 (GRCm39) |
D176E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,039,264 (GRCm39) |
W466R |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,118 (GRCm39) |
M692K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,499,807 (GRCm39) |
K143E |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,900,000 (GRCm39) |
L635F |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,510,267 (GRCm39) |
|
probably benign |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,910 (GRCm39) |
M689K |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,325 (GRCm39) |
Y79H |
probably benign |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,186 (GRCm39) |
F224L |
probably benign |
Het |
| Zfp493 |
T |
G |
13: 67,934,921 (GRCm39) |
I291M |
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 |
|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation