Incidental Mutation 'R1793:C3'
| ID |
201994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C3
|
| Ensembl Gene |
ENSMUSG00000024164 |
| Gene Name |
complement component 3 |
| Synonyms |
Plp, acylation stimulating protein, complement factor 3 |
| MMRRC Submission |
039823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1793 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57510970-57535136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57526592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 796
(K796N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024988]
[ENSMUST00000177425]
|
| AlphaFold |
P01027 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024988
AA Change: K796N
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: K796N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:A2M_N
|
130 |
225 |
3.8e-17 |
PFAM |
|
A2M_N_2
|
456 |
604 |
5.22e-38 |
SMART |
|
ANATO
|
693 |
728 |
5.69e-15 |
SMART |
|
low complexity region
|
752 |
762 |
N/A |
INTRINSIC |
|
A2M
|
770 |
866 |
5.47e-32 |
SMART |
|
Pfam:Thiol-ester_cl
|
1000 |
1028 |
4.6e-15 |
PFAM |
|
Pfam:A2M_comp
|
1051 |
1284 |
7.3e-60 |
PFAM |
|
A2M_recep
|
1398 |
1493 |
3.98e-43 |
SMART |
|
C345C
|
1533 |
1645 |
1.85e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177425
|
| SMART Domains |
Protein: ENSMUSP00000135663
Gene: ENSMUSG00000024164
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:A2M_N_2
|
1 |
55 |
1.6e-10 |
PFAM |
|
PDB:3L5N|B
|
74 |
102 |
1e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184453
|
| Meta Mutation Damage Score |
0.5487 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (122/122) |
| MGI Phenotype |
FUNCTION: This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,144 (GRCm39) |
H571Q |
probably damaging |
Het |
| Abcf2 |
T |
A |
5: 24,773,774 (GRCm39) |
M372L |
probably benign |
Het |
| Acaca |
A |
C |
11: 84,206,795 (GRCm39) |
T1552P |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,229,219 (GRCm39) |
D1682G |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,906 (GRCm39) |
V62A |
probably benign |
Het |
| Aimp1 |
C |
T |
3: 132,379,825 (GRCm39) |
V97M |
probably benign |
Het |
| Aldh1l1 |
C |
T |
6: 90,554,813 (GRCm39) |
T557I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,471,447 (GRCm39) |
T1012A |
probably damaging |
Het |
| Amot |
G |
A |
X: 144,233,585 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
T |
A |
7: 101,037,829 (GRCm39) |
H477Q |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,736,732 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,242,684 (GRCm39) |
V862M |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,554 (GRCm39) |
I27V |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,277 (GRCm39) |
P8L |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,616 (GRCm39) |
H2682R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,079 (GRCm39) |
V241E |
probably benign |
Het |
| Atf7ip |
G |
T |
6: 136,586,217 (GRCm39) |
|
probably benign |
Het |
| AY358078 |
T |
G |
14: 52,042,051 (GRCm39) |
M142R |
unknown |
Het |
| Ceacam16 |
T |
C |
7: 19,590,041 (GRCm39) |
T301A |
probably damaging |
Het |
| Ceacam5 |
T |
G |
7: 17,481,320 (GRCm39) |
Y356D |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,984,838 (GRCm39) |
A1616V |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,141,781 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Cherp |
A |
T |
8: 73,216,994 (GRCm39) |
H645Q |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,242 (GRCm39) |
D167G |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,275,860 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
C |
T |
15: 92,189,552 (GRCm39) |
T625I |
possibly damaging |
Het |
| Cpn2 |
T |
A |
16: 30,078,142 (GRCm39) |
N520Y |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,620 (GRCm39) |
R1762W |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,715,967 (GRCm39) |
V100F |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,216,934 (GRCm39) |
V87D |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,010,420 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
A |
7: 134,700,456 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,191,552 (GRCm39) |
Y291* |
probably null |
Het |
| Eif4g3 |
T |
C |
4: 137,898,442 (GRCm39) |
I1071T |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,322,549 (GRCm39) |
Q78R |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,284 (GRCm39) |
P195S |
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,161,666 (GRCm39) |
Q835* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,741 (GRCm39) |
N678S |
probably benign |
Het |
| Frk |
G |
A |
10: 34,483,878 (GRCm39) |
R413H |
probably benign |
Het |
| Gm10619 |
C |
A |
7: 73,459,758 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12185 |
G |
A |
11: 48,806,583 (GRCm39) |
R203* |
probably null |
Het |
| Gm12886 |
A |
G |
4: 121,280,174 (GRCm39) |
V34A |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,707 (GRCm39) |
I246N |
probably damaging |
Het |
| Gpm6a |
T |
C |
8: 55,507,867 (GRCm39) |
M201T |
probably benign |
Het |
| Gpsm2 |
T |
G |
3: 108,608,225 (GRCm39) |
D220A |
probably benign |
Het |
| Grip2 |
C |
G |
6: 91,760,623 (GRCm39) |
V325L |
probably benign |
Het |
| Grk5 |
C |
A |
19: 61,065,200 (GRCm39) |
A288D |
probably damaging |
Het |
| Herpud2 |
G |
A |
9: 25,021,953 (GRCm39) |
A231V |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,834 (GRCm39) |
S1024G |
probably benign |
Het |
| Hp1bp3 |
A |
G |
4: 137,957,820 (GRCm39) |
D295G |
probably damaging |
Het |
| Igsf21 |
T |
C |
4: 139,761,703 (GRCm39) |
H325R |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,364 (GRCm39) |
L61F |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,590 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,516,712 (GRCm39) |
C374S |
probably benign |
Het |
| Klk1b22 |
A |
G |
7: 43,765,775 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,940,764 (GRCm39) |
M630T |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,725 (GRCm39) |
C115S |
probably damaging |
Het |
| Lmcd1 |
C |
A |
6: 112,305,712 (GRCm39) |
T271K |
probably benign |
Het |
| Lpar1 |
G |
A |
4: 58,486,798 (GRCm39) |
R158* |
probably null |
Het |
| Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
| Map3k8 |
G |
A |
18: 4,332,389 (GRCm39) |
Q441* |
probably null |
Het |
| Mboat1 |
T |
C |
13: 30,403,633 (GRCm39) |
V144A |
probably damaging |
Het |
| Mcur1 |
C |
T |
13: 43,713,491 (GRCm39) |
G38S |
unknown |
Het |
| Med13 |
T |
A |
11: 86,220,177 (GRCm39) |
M276L |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,526,528 (GRCm39) |
S699P |
possibly damaging |
Het |
| Mfsd4a |
C |
A |
1: 131,987,077 (GRCm39) |
A62S |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,571,459 (GRCm39) |
M1V |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,548,415 (GRCm39) |
T58I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,538,066 (GRCm39) |
D1316V |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,555,478 (GRCm39) |
C235S |
possibly damaging |
Het |
| Naa25 |
C |
A |
5: 121,558,656 (GRCm39) |
R333S |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,539,233 (GRCm39) |
T2056I |
probably benign |
Het |
| Nol4 |
A |
G |
18: 22,902,878 (GRCm39) |
Y378H |
probably damaging |
Het |
| Npat |
G |
A |
9: 53,463,589 (GRCm39) |
R124Q |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,848,665 (GRCm39) |
E434V |
probably benign |
Het |
| Nptx2 |
A |
G |
5: 144,485,130 (GRCm39) |
T208A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,968,606 (GRCm39) |
V2798M |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,460,679 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,976 (GRCm39) |
H8Q |
probably benign |
Het |
| Or52r1 |
A |
G |
7: 102,537,250 (GRCm39) |
Y37H |
probably benign |
Het |
| Or5b122 |
C |
T |
19: 13,562,779 (GRCm39) |
T37I |
probably benign |
Het |
| Padi1 |
G |
A |
4: 140,541,967 (GRCm39) |
P652S |
probably damaging |
Het |
| Pcdh1 |
G |
T |
18: 38,331,938 (GRCm39) |
P355Q |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,422 (GRCm39) |
R189H |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,432,114 (GRCm39) |
K1500N |
possibly damaging |
Het |
| Phc3 |
A |
T |
3: 31,002,865 (GRCm39) |
S218T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,239,355 (GRCm39) |
M510L |
possibly damaging |
Het |
| Polr1g |
T |
C |
7: 19,091,904 (GRCm39) |
T68A |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,754,717 (GRCm39) |
Y177N |
probably damaging |
Het |
| Psme2b |
A |
T |
11: 48,836,361 (GRCm39) |
D195E |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,088,827 (GRCm39) |
V463A |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,836,281 (GRCm39) |
R574Q |
probably damaging |
Het |
| Rap1gds1 |
T |
A |
3: 138,756,314 (GRCm39) |
T14S |
possibly damaging |
Het |
| Rbm11 |
A |
T |
16: 75,397,685 (GRCm39) |
K205M |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,793,050 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,630,169 (GRCm39) |
H228Q |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,831,640 (GRCm39) |
I710K |
probably benign |
Het |
| Slc27a4 |
C |
A |
2: 29,695,733 (GRCm39) |
D89E |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,863,779 (GRCm39) |
V309A |
probably benign |
Het |
| Syt7 |
T |
G |
19: 10,421,354 (GRCm39) |
Y420D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,515,859 (GRCm39) |
|
probably null |
Het |
| Tbc1d10b |
A |
G |
7: 126,802,930 (GRCm39) |
S333P |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,914,209 (GRCm39) |
P2442S |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 49,127,579 (GRCm39) |
C33Y |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,319,419 (GRCm39) |
L245P |
possibly damaging |
Het |
| Tlr5 |
T |
C |
1: 182,800,012 (GRCm39) |
F5L |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,726,999 (GRCm39) |
F784L |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
| Txndc17 |
T |
A |
11: 72,099,571 (GRCm39) |
N81K |
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,830,895 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
C |
7: 37,681,116 (GRCm39) |
V96G |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,246 (GRCm39) |
I482N |
probably damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,974 (GRCm39) |
N73S |
possibly damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,388 (GRCm39) |
G689* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,877,164 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,051,474 (GRCm39) |
S659G |
probably damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,349 (GRCm39) |
K275R |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,535 (GRCm39) |
P1789S |
probably damaging |
Het |
|
| Other mutations in C3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:C3
|
APN |
17 |
57,533,004 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00741:C3
|
APN |
17 |
57,527,206 (GRCm39) |
intron |
probably benign |
|
|
IGL01093:C3
|
APN |
17 |
57,530,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01309:C3
|
APN |
17 |
57,516,652 (GRCm39) |
intron |
probably benign |
|
|
IGL01312:C3
|
APN |
17 |
57,532,993 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01344:C3
|
APN |
17 |
57,531,880 (GRCm39) |
missense |
probably benign |
|
|
IGL01514:C3
|
APN |
17 |
57,522,866 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01913:C3
|
APN |
17 |
57,520,767 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL02165:C3
|
APN |
17 |
57,532,092 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02176:C3
|
APN |
17 |
57,533,337 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02189:C3
|
APN |
17 |
57,527,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02378:C3
|
APN |
17 |
57,519,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02422:C3
|
APN |
17 |
57,533,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02715:C3
|
APN |
17 |
57,511,158 (GRCm39) |
intron |
probably benign |
|
|
IGL02737:C3
|
APN |
17 |
57,511,281 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03201:C3
|
APN |
17 |
57,529,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:C3
|
APN |
17 |
57,522,846 (GRCm39) |
nonsense |
probably null |
|
|
IGL03345:C3
|
APN |
17 |
57,526,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:C3
|
UTSW |
17 |
57,513,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4494001:C3
|
UTSW |
17 |
57,516,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0158:C3
|
UTSW |
17 |
57,531,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0318:C3
|
UTSW |
17 |
57,531,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1132:C3
|
UTSW |
17 |
57,514,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1765:C3
|
UTSW |
17 |
57,531,401 (GRCm39) |
splice site |
probably null |
|
|
R1852:C3
|
UTSW |
17 |
57,529,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1908:C3
|
UTSW |
17 |
57,516,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:C3
|
UTSW |
17 |
57,527,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:C3
|
UTSW |
17 |
57,525,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:C3
|
UTSW |
17 |
57,525,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:C3
|
UTSW |
17 |
57,530,974 (GRCm39) |
splice site |
probably null |
|
|
R2197:C3
|
UTSW |
17 |
57,526,623 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2394:C3
|
UTSW |
17 |
57,529,303 (GRCm39) |
nonsense |
probably null |
|
|
R2998:C3
|
UTSW |
17 |
57,517,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3727:C3
|
UTSW |
17 |
57,514,379 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3767:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3768:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3769:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3770:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3784:C3
|
UTSW |
17 |
57,533,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3883:C3
|
UTSW |
17 |
57,524,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3884:C3
|
UTSW |
17 |
57,524,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3950:C3
|
UTSW |
17 |
57,532,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3966:C3
|
UTSW |
17 |
57,525,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4077:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4078:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4079:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4168:C3
|
UTSW |
17 |
57,525,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4208:C3
|
UTSW |
17 |
57,512,303 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4695:C3
|
UTSW |
17 |
57,528,057 (GRCm39) |
missense |
probably benign |
|
|
R4909:C3
|
UTSW |
17 |
57,533,830 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5011:C3
|
UTSW |
17 |
57,530,236 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5094:C3
|
UTSW |
17 |
57,532,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5141:C3
|
UTSW |
17 |
57,526,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5170:C3
|
UTSW |
17 |
57,530,938 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5339:C3
|
UTSW |
17 |
57,531,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5369:C3
|
UTSW |
17 |
57,528,159 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5412:C3
|
UTSW |
17 |
57,527,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5439:C3
|
UTSW |
17 |
57,511,502 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5463:C3
|
UTSW |
17 |
57,518,720 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5546:C3
|
UTSW |
17 |
57,529,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5572:C3
|
UTSW |
17 |
57,531,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5851:C3
|
UTSW |
17 |
57,518,612 (GRCm39) |
missense |
probably null |
0.14 |
|
R5863:C3
|
UTSW |
17 |
57,530,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5888:C3
|
UTSW |
17 |
57,521,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:C3
|
UTSW |
17 |
57,517,244 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6073:C3
|
UTSW |
17 |
57,513,223 (GRCm39) |
missense |
probably null |
|
|
R6091:C3
|
UTSW |
17 |
57,528,967 (GRCm39) |
nonsense |
probably null |
|
|
R6286:C3
|
UTSW |
17 |
57,531,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:C3
|
UTSW |
17 |
57,524,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6868:C3
|
UTSW |
17 |
57,511,029 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6896:C3
|
UTSW |
17 |
57,527,864 (GRCm39) |
splice site |
probably null |
|
|
R7007:C3
|
UTSW |
17 |
57,525,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7022:C3
|
UTSW |
17 |
57,524,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:C3
|
UTSW |
17 |
57,513,276 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7117:C3
|
UTSW |
17 |
57,519,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7347:C3
|
UTSW |
17 |
57,530,215 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7366:C3
|
UTSW |
17 |
57,528,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7423:C3
|
UTSW |
17 |
57,521,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7425:C3
|
UTSW |
17 |
57,511,039 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7481:C3
|
UTSW |
17 |
57,527,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:C3
|
UTSW |
17 |
57,513,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7746:C3
|
UTSW |
17 |
57,525,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:C3
|
UTSW |
17 |
57,522,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7884:C3
|
UTSW |
17 |
57,533,264 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8144:C3
|
UTSW |
17 |
57,533,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8279:C3
|
UTSW |
17 |
57,522,809 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8284:C3
|
UTSW |
17 |
57,530,938 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8328:C3
|
UTSW |
17 |
57,527,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:C3
|
UTSW |
17 |
57,519,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8396:C3
|
UTSW |
17 |
57,528,029 (GRCm39) |
missense |
probably benign |
|
|
R8429:C3
|
UTSW |
17 |
57,529,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:C3
|
UTSW |
17 |
57,519,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8557:C3
|
UTSW |
17 |
57,531,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:C3
|
UTSW |
17 |
57,511,015 (GRCm39) |
makesense |
probably null |
|
|
R8794:C3
|
UTSW |
17 |
57,528,011 (GRCm39) |
missense |
probably benign |
|
|
R9130:C3
|
UTSW |
17 |
57,518,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:C3
|
UTSW |
17 |
57,511,291 (GRCm39) |
missense |
probably benign |
|
|
R9432:C3
|
UTSW |
17 |
57,530,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:C3
|
UTSW |
17 |
57,531,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9542:C3
|
UTSW |
17 |
57,532,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:C3
|
UTSW |
17 |
57,518,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9624:C3
|
UTSW |
17 |
57,527,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:C3
|
UTSW |
17 |
57,533,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:C3
|
UTSW |
17 |
57,524,144 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGAGTTTACATGTGCGC -3'
(R):5'- TGAACTAGCAAAGCCACAGG -3'
Sequencing Primer
(F):5'- CCAAAGGTTGACCCTGAGTG -3'
(R):5'- GGTGCAACCCAGAGCTCCTATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation