Incidental Mutation 'R6800:Cfhr4'
| ID |
533248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfhr4
|
| Ensembl Gene |
ENSMUSG00000070594 |
| Gene Name |
complement factor H-related 4 |
| Synonyms |
Gm4788 |
| MMRRC Submission |
044913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6800 (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 139629719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 683
(D683V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027612]
[ENSMUST00000111986]
[ENSMUST00000111989]
|
| AlphaFold |
E9Q8B5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027612
AA Change: D683V
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: D683V
| 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
AA Change: N695I
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: N695I
| 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 |
possibly damaging
Transcript: ENSMUST00000111989
AA Change: D754V
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: D754V
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 60,992,948 (GRCm39) |
P244S |
probably damaging |
Het |
| 9130023H24Rik |
C |
A |
7: 127,836,742 (GRCm39) |
|
probably benign |
Het |
| Acoxl |
A |
T |
2: 127,852,085 (GRCm39) |
Q129L |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,316,268 (GRCm39) |
T32A |
probably benign |
Het |
| Alox15 |
C |
T |
11: 70,235,645 (GRCm39) |
|
probably null |
Het |
| Antxrl |
T |
C |
14: 33,787,864 (GRCm39) |
S296P |
probably damaging |
Het |
| Arrb2 |
G |
T |
11: 70,328,142 (GRCm39) |
G52* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,179,105 (GRCm39) |
F2091S |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,309,045 (GRCm39) |
I499N |
probably damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,686 (GRCm39) |
D396E |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,326,066 (GRCm39) |
I2700F |
probably damaging |
Het |
| Cypt4 |
A |
T |
9: 24,536,965 (GRCm39) |
N152Y |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,316,467 (GRCm39) |
N1640D |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,379,377 (GRCm39) |
N3704Y |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,963,565 (GRCm39) |
|
probably null |
Het |
| Elac2 |
G |
A |
11: 64,890,265 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,433,029 (GRCm39) |
|
probably null |
Het |
| Espnl |
T |
C |
1: 91,270,351 (GRCm39) |
V386A |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,422,898 (GRCm39) |
|
probably benign |
Het |
| Fdps |
A |
C |
3: 89,008,068 (GRCm39) |
F17V |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,346,898 (GRCm39) |
I576T |
possibly damaging |
Het |
| Gm20939 |
A |
G |
17: 95,184,657 (GRCm39) |
E435G |
possibly damaging |
Het |
| Hivep1 |
G |
A |
13: 42,310,852 (GRCm39) |
V1031I |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,324,603 (GRCm39) |
S4655A |
probably benign |
Het |
| Ifrd1 |
T |
A |
12: 40,273,157 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,378,729 (GRCm39) |
T1219K |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,233 (GRCm39) |
E639K |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 20,017,326 (GRCm39) |
*1373W |
probably null |
Het |
| Mia2 |
G |
A |
12: 59,235,332 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,156,896 (GRCm39) |
D313G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,371 (GRCm39) |
S77P |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,367 (GRCm39) |
V17A |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,661 (GRCm39) |
Y204* |
probably null |
Het |
| Or2n1 |
A |
G |
17: 38,486,013 (GRCm39) |
I13V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,217 (GRCm39) |
V97E |
probably benign |
Het |
| Or5p67 |
G |
A |
7: 107,922,460 (GRCm39) |
T141I |
probably benign |
Het |
| Or6c66b |
A |
T |
10: 129,377,132 (GRCm39) |
H242L |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,596,941 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,580 (GRCm39) |
R550Q |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,323,577 (GRCm39) |
L437P |
possibly damaging |
Het |
| Pianp |
C |
A |
6: 124,978,565 (GRCm39) |
P257T |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,584,287 (GRCm39) |
H140Q |
possibly damaging |
Het |
| Rfx2 |
A |
G |
17: 57,087,804 (GRCm39) |
I529T |
probably damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,268,599 (GRCm39) |
I1395T |
possibly damaging |
Het |
| Rps6ka2 |
A |
C |
17: 7,519,035 (GRCm39) |
K186Q |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
C |
A |
2: 180,964,256 (GRCm39) |
T85N |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,710,967 (GRCm39) |
N99S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,723,741 (GRCm39) |
G4106D |
possibly damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,437,894 (GRCm39) |
V71A |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,778,225 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,676,371 (GRCm39) |
T515I |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Strbp |
C |
T |
2: 37,515,228 (GRCm39) |
R266Q |
probably damaging |
Het |
| Strn |
G |
T |
17: 78,977,787 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,118,264 (GRCm39) |
V55L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,231,858 (GRCm39) |
Q164L |
unknown |
Het |
| Tmprss6 |
C |
T |
15: 78,324,457 (GRCm39) |
R786H |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,770,268 (GRCm39) |
L113Q |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,038,994 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,191 (GRCm39) |
D465G |
probably damaging |
Het |
| Vmp1 |
A |
C |
11: 86,556,913 (GRCm39) |
|
probably null |
Het |
| Wdcp |
T |
C |
12: 4,901,358 (GRCm39) |
F405L |
probably damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,676,149 (GRCm39) |
T2400S |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,593,860 (GRCm39) |
T702A |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,080 (GRCm39) |
S333G |
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 |
|
|
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 |
|
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'- TGGTGGCTCAGACCACTTTC -3'
(R):5'- TACTAGTACTTGAAGGCTTCAGAG -3'
Sequencing Primer
(F):5'- GTGGCTCAGACCACTTTCCATTTC -3'
(R):5'- CTTCAGAGCAGACATGTTTGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation