Incidental Mutation 'IGL02378:Hcfc2'
| ID |
291251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hcfc2
|
| Ensembl Gene |
ENSMUSG00000020246 |
| Gene Name |
host cell factor C2 |
| Synonyms |
1700129L13Rik, fkls |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
IGL02378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
82531994-82578262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82544905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 179
(I179T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020478]
|
| AlphaFold |
Q9D968 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020478
AA Change: I179T
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020478
Gene: ENSMUSG00000020246
AA Change: I179T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
22 |
60 |
2.1e-6 |
PFAM |
|
Pfam:Kelch_5
|
68 |
106 |
1.1e-6 |
PFAM |
|
Pfam:Kelch_3
|
81 |
135 |
8.8e-7 |
PFAM |
|
Pfam:Kelch_5
|
186 |
230 |
8.4e-7 |
PFAM |
|
Pfam:Kelch_3
|
206 |
253 |
1.6e-11 |
PFAM |
|
Pfam:Kelch_1
|
244 |
302 |
7.5e-9 |
PFAM |
|
Pfam:Kelch_3
|
254 |
323 |
3.4e-7 |
PFAM |
|
Pfam:Kelch_5
|
312 |
356 |
1.4e-6 |
PFAM |
|
FN3
|
357 |
591 |
8.43e-9 |
SMART |
|
FN3
|
607 |
703 |
6.06e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162422
|
| SMART Domains |
Protein: ENSMUSP00000124472
Gene: ENSMUSG00000020246
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
1 |
38 |
8.5e-7 |
PFAM |
|
Pfam:Kelch_5
|
46 |
84 |
3.7e-8 |
PFAM |
|
Pfam:Kelch_3
|
59 |
113 |
2.6e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null or severely hypomorphic allele exhibit reduced poly(I:C)-mediated TLR3 signaling and increased mortality following viral infection. [provided by MGI curators]
|
| Allele List at MGI |
none known |
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
| Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Arhgap42 |
G |
A |
9: 9,035,584 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
| Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
| Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
| Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
| Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
| Gabra1 |
C |
A |
11: 42,031,082 (GRCm39) |
V283F |
probably damaging |
Het |
| Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
| Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
| Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
| Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
| Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
| Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
| Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,118,006 (GRCm39) |
M583K |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
| Slc24a3 |
C |
T |
2: 145,360,322 (GRCm39) |
R141C |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
| Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
| Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
| Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,266 (GRCm39) |
M450I |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
probably benign |
Het |
|
| Other mutations in Hcfc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00847:Hcfc2
|
APN |
10 |
82,577,112 (GRCm39) |
splice site |
probably null |
|
|
IGL01799:Hcfc2
|
APN |
10 |
82,536,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:Hcfc2
|
APN |
10 |
82,570,217 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02150:Hcfc2
|
APN |
10 |
82,545,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02580:Hcfc2
|
APN |
10 |
82,564,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02641:Hcfc2
|
APN |
10 |
82,538,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Backstabbing
|
UTSW |
10 |
82,547,659 (GRCm39) |
splice site |
probably null |
|
|
feckless
|
UTSW |
10 |
82,547,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Minions
|
UTSW |
10 |
82,575,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
scaffold
|
UTSW |
10 |
82,574,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0380:Hcfc2
|
UTSW |
10 |
82,564,272 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Hcfc2
|
UTSW |
10 |
82,575,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Hcfc2
|
UTSW |
10 |
82,574,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Hcfc2
|
UTSW |
10 |
82,536,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Hcfc2
|
UTSW |
10 |
82,538,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1939:Hcfc2
|
UTSW |
10 |
82,538,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Hcfc2
|
UTSW |
10 |
82,574,814 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2015:Hcfc2
|
UTSW |
10 |
82,574,814 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2571:Hcfc2
|
UTSW |
10 |
82,544,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Hcfc2
|
UTSW |
10 |
82,568,481 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4694:Hcfc2
|
UTSW |
10 |
82,559,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Hcfc2
|
UTSW |
10 |
82,547,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Hcfc2
|
UTSW |
10 |
82,544,980 (GRCm39) |
missense |
probably null |
0.01 |
|
R6837:Hcfc2
|
UTSW |
10 |
82,575,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7268:Hcfc2
|
UTSW |
10 |
82,544,846 (GRCm39) |
nonsense |
probably null |
|
|
R7683:Hcfc2
|
UTSW |
10 |
82,535,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7733:Hcfc2
|
UTSW |
10 |
82,575,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7742:Hcfc2
|
UTSW |
10 |
82,547,659 (GRCm39) |
splice site |
probably null |
|
|
R8319:Hcfc2
|
UTSW |
10 |
82,574,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8829:Hcfc2
|
UTSW |
10 |
82,574,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Hcfc2
|
UTSW |
10 |
82,536,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Hcfc2
|
UTSW |
10 |
82,535,041 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9241:Hcfc2
|
UTSW |
10 |
82,568,485 (GRCm39) |
missense |
probably benign |
|
|
R9362:Hcfc2
|
UTSW |
10 |
82,574,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Hcfc2
|
UTSW |
10 |
82,574,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9386:Hcfc2
|
UTSW |
10 |
82,574,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Hcfc2
|
UTSW |
10 |
82,574,269 (GRCm39) |
nonsense |
probably null |
|
|
R9802:Hcfc2
|
UTSW |
10 |
82,574,269 (GRCm39) |
nonsense |
probably null |
|
|
V3553:Hcfc2
|
UTSW |
10 |
82,547,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Hcfc2
|
UTSW |
10 |
82,545,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Hcfc2
|
UTSW |
10 |
82,535,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation