Incidental Mutation 'R2032:Cfhr4'
| ID |
221320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| MMRRC Submission |
040039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139625657-139708977 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 139660993 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 benign
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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,585,056 (GRCm39) |
|
probably benign |
Het |
| Abca7 |
C |
T |
10: 79,844,071 (GRCm39) |
T1359M |
probably damaging |
Het |
| Acox2 |
A |
G |
14: 8,246,400 (GRCm38) |
S464P |
probably benign |
Het |
| Adgrf1 |
C |
T |
17: 43,622,166 (GRCm39) |
T801I |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Akap12 |
C |
A |
10: 4,306,673 (GRCm39) |
A1161D |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,616 (GRCm39) |
V635D |
possibly damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,762,168 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,203,373 (GRCm39) |
V28A |
probably benign |
Het |
| Atxn3 |
A |
T |
12: 101,908,453 (GRCm39) |
L133* |
probably null |
Het |
| Bmp2 |
T |
C |
2: 133,403,216 (GRCm39) |
S256P |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,978 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ccdc138 |
T |
A |
10: 58,348,984 (GRCm39) |
Y177N |
possibly damaging |
Het |
| Ccdc168 |
C |
A |
1: 44,100,900 (GRCm39) |
C66F |
possibly damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,844,781 (GRCm39) |
G674E |
probably damaging |
Het |
| Cep164 |
C |
T |
9: 45,682,898 (GRCm39) |
V931M |
probably damaging |
Het |
| CK137956 |
T |
C |
4: 127,839,069 (GRCm39) |
T450A |
probably benign |
Het |
| Col23a1 |
G |
A |
11: 51,450,835 (GRCm39) |
G215D |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd6a |
T |
C |
14: 26,325,904 (GRCm39) |
M5T |
probably benign |
Het |
| Dnajc6 |
T |
G |
4: 101,471,435 (GRCm39) |
I284S |
probably benign |
Het |
| Dolpp1 |
C |
T |
2: 30,282,453 (GRCm39) |
A2V |
probably damaging |
Het |
| Eml2 |
C |
T |
7: 18,936,480 (GRCm39) |
T711I |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,260,622 (GRCm39) |
D1065G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,799,460 (GRCm39) |
A293S |
probably benign |
Het |
| Fap |
A |
G |
2: 62,372,581 (GRCm39) |
V266A |
probably benign |
Het |
| Fgf10 |
A |
T |
13: 118,852,131 (GRCm39) |
Y71F |
probably damaging |
Het |
| Gm3443 |
G |
T |
19: 21,533,164 (GRCm39) |
G43C |
probably damaging |
Het |
| Gpr146 |
T |
C |
5: 139,364,902 (GRCm39) |
|
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,785,104 (GRCm39) |
L172H |
probably damaging |
Het |
| Mas1 |
T |
C |
17: 13,061,457 (GRCm39) |
|
probably benign |
Het |
| Nlrp5 |
G |
A |
7: 23,120,937 (GRCm39) |
R717Q |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,817,283 (GRCm39) |
V36A |
possibly damaging |
Het |
| Or10v5 |
C |
T |
19: 11,805,664 (GRCm39) |
C242Y |
probably damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,083 (GRCm39) |
I179N |
probably benign |
Het |
| Or7a41 |
T |
A |
10: 78,871,163 (GRCm39) |
F178I |
possibly damaging |
Het |
| Parp4 |
T |
A |
14: 56,866,553 (GRCm39) |
I1039K |
possibly damaging |
Het |
| Pate12 |
T |
C |
9: 36,344,195 (GRCm39) |
|
probably null |
Het |
| Pold2 |
A |
T |
11: 5,826,757 (GRCm39) |
I59N |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,264,304 (GRCm39) |
|
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,716,088 (GRCm39) |
|
probably benign |
Het |
| Recql |
C |
T |
6: 142,313,009 (GRCm39) |
G403R |
probably damaging |
Het |
| Serpina3m |
T |
A |
12: 104,355,928 (GRCm39) |
D198E |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,906,947 (GRCm39) |
Y93N |
probably damaging |
Het |
| Slc27a3 |
C |
T |
3: 90,294,704 (GRCm39) |
R389H |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,897,035 (GRCm39) |
M417K |
probably damaging |
Het |
| Syt13 |
A |
G |
2: 92,783,746 (GRCm39) |
K339E |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,265 (GRCm39) |
H163Q |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,074,180 (GRCm39) |
G253R |
probably null |
Het |
| Trpv1 |
A |
G |
11: 73,129,211 (GRCm39) |
T43A |
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,039,131 (GRCm39) |
I510T |
probably damaging |
Het |
| Vmn1r224 |
C |
A |
17: 20,639,658 (GRCm39) |
D78E |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,210 (GRCm39) |
I274L |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,868,946 (GRCm39) |
V361I |
probably benign |
Het |
| Zpbp2 |
A |
T |
11: 98,445,534 (GRCm39) |
K165N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGCTTGGTTGAGAGTAGAC -3'
(R):5'- TCACTGCATTGGTCAGTAGC -3'
Sequencing Primer
(F):5'- TCCCATGTAGCAGGCTACC -3'
(R):5'- CACTGCATTGGTCAGTAGCTATGAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation