Incidental Mutation 'IGL02135:Gcfc2'
ID |
281285 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gcfc2
|
Ensembl Gene |
ENSMUSG00000035125 |
Gene Name |
GC-rich sequence DNA binding factor 2 |
Synonyms |
AW146020 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.484)
|
Stock # |
IGL02135
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
81900650-81936896 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81918381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 357
(D357V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043195]
[ENSMUST00000152996]
|
AlphaFold |
Q8BKT3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043195
AA Change: D357V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035644 Gene: ENSMUSG00000035125 AA Change: D357V
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
24 |
N/A |
INTRINSIC |
low complexity region
|
43 |
66 |
N/A |
INTRINSIC |
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
low complexity region
|
193 |
210 |
N/A |
INTRINSIC |
coiled coil region
|
255 |
308 |
N/A |
INTRINSIC |
low complexity region
|
392 |
406 |
N/A |
INTRINSIC |
Pfam:GCFC
|
456 |
672 |
3e-34 |
PFAM |
low complexity region
|
753 |
763 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132301
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152996
|
SMART Domains |
Protein: ENSMUSP00000138136 Gene: ENSMUSG00000035125
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
24 |
N/A |
INTRINSIC |
low complexity region
|
43 |
66 |
N/A |
INTRINSIC |
low complexity region
|
97 |
111 |
N/A |
INTRINSIC |
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
low complexity region
|
193 |
210 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,949,205 (GRCm39) |
H1034R |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,952,498 (GRCm39) |
R141Q |
probably benign |
Het |
App |
A |
G |
16: 84,876,726 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
G |
T |
11: 97,342,528 (GRCm39) |
R270L |
probably damaging |
Het |
Arhgap36 |
T |
C |
X: 48,586,066 (GRCm39) |
I342T |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,883,461 (GRCm39) |
M1356K |
possibly damaging |
Het |
Armh4 |
T |
C |
14: 50,011,386 (GRCm39) |
K107R |
probably damaging |
Het |
Asap3 |
A |
C |
4: 135,968,464 (GRCm39) |
|
probably null |
Het |
Atl2 |
A |
G |
17: 80,167,214 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 110,066,004 (GRCm39) |
Y759* |
probably null |
Het |
Celsr3 |
A |
G |
9: 108,704,755 (GRCm39) |
T413A |
probably benign |
Het |
Cep97 |
A |
T |
16: 55,743,330 (GRCm39) |
I102K |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,466,813 (GRCm39) |
S441P |
probably benign |
Het |
Cops2 |
T |
C |
2: 125,674,163 (GRCm39) |
T435A |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,911,989 (GRCm39) |
N56S |
probably benign |
Het |
Dennd2a |
G |
A |
6: 39,457,205 (GRCm39) |
R746* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,248,031 (GRCm39) |
C723S |
possibly damaging |
Het |
Dnah7a |
A |
C |
1: 53,662,632 (GRCm39) |
V643G |
probably benign |
Het |
Dnah9 |
A |
T |
11: 66,008,318 (GRCm39) |
S836T |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,612,454 (GRCm39) |
V164D |
probably damaging |
Het |
Grem1 |
T |
C |
2: 113,580,132 (GRCm39) |
N123S |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,076,679 (GRCm39) |
V94A |
probably damaging |
Het |
Hipk2 |
G |
A |
6: 38,795,934 (GRCm39) |
H112Y |
possibly damaging |
Het |
Il7r |
T |
C |
15: 9,508,092 (GRCm39) |
N410S |
probably benign |
Het |
Insr |
A |
T |
8: 3,308,741 (GRCm39) |
S98R |
probably damaging |
Het |
Klhl7 |
T |
A |
5: 24,346,279 (GRCm39) |
Y308* |
probably null |
Het |
Lcp1 |
T |
C |
14: 75,437,926 (GRCm39) |
V112A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,419,920 (GRCm39) |
R84* |
probably null |
Het |
Mgst1 |
A |
T |
6: 138,124,766 (GRCm39) |
M27L |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,559,707 (GRCm39) |
L740P |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,955,171 (GRCm39) |
F507L |
possibly damaging |
Het |
Nqo2 |
A |
T |
13: 34,169,326 (GRCm39) |
K183* |
probably null |
Het |
Nt5c1b |
T |
C |
12: 10,427,194 (GRCm39) |
Y315H |
probably damaging |
Het |
Odc1 |
T |
A |
12: 17,597,674 (GRCm39) |
I48N |
probably damaging |
Het |
Or2a56 |
A |
G |
6: 42,932,585 (GRCm39) |
D51G |
probably damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,940 (GRCm39) |
S152R |
probably damaging |
Het |
Osbpl5 |
T |
A |
7: 143,258,862 (GRCm39) |
D236V |
probably damaging |
Het |
Prkg1 |
A |
G |
19: 30,970,476 (GRCm39) |
Y212H |
probably benign |
Het |
Pttg1ip |
T |
C |
10: 77,425,578 (GRCm39) |
|
probably null |
Het |
Serpina1f |
T |
A |
12: 103,659,974 (GRCm39) |
T103S |
possibly damaging |
Het |
Skp2 |
T |
C |
15: 9,125,234 (GRCm39) |
D115G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,004,435 (GRCm39) |
V221I |
probably benign |
Het |
Slc7a3 |
A |
C |
X: 100,123,098 (GRCm39) |
D609E |
probably benign |
Het |
Strc |
C |
T |
2: 121,195,315 (GRCm39) |
G1656D |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,441,891 (GRCm39) |
F234L |
probably damaging |
Het |
Tgm7 |
T |
G |
2: 120,929,519 (GRCm39) |
I252L |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,800,819 (GRCm39) |
D41G |
possibly damaging |
Het |
Tns2 |
T |
C |
15: 102,021,461 (GRCm39) |
L1034P |
probably damaging |
Het |
Trim15 |
A |
G |
17: 37,177,956 (GRCm39) |
V13A |
probably benign |
Het |
Uros |
C |
T |
7: 133,288,734 (GRCm39) |
V258M |
possibly damaging |
Het |
Wdr75 |
A |
G |
1: 45,853,723 (GRCm39) |
Y378C |
probably damaging |
Het |
Wdr75 |
G |
A |
1: 45,856,608 (GRCm39) |
|
probably null |
Het |
Wdr82 |
G |
T |
9: 106,048,443 (GRCm39) |
R9L |
possibly damaging |
Het |
Ybx3 |
G |
A |
6: 131,357,892 (GRCm39) |
R125C |
probably damaging |
Het |
Zc3h12b |
A |
G |
X: 94,942,870 (GRCm39) |
T49A |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,172,575 (GRCm39) |
V279M |
probably damaging |
Het |
|
Other mutations in Gcfc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Gcfc2
|
APN |
6 |
81,912,996 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00473:Gcfc2
|
APN |
6 |
81,921,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00497:Gcfc2
|
APN |
6 |
81,934,951 (GRCm39) |
missense |
probably benign |
0.08 |
R0138:Gcfc2
|
UTSW |
6 |
81,926,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R0208:Gcfc2
|
UTSW |
6 |
81,920,444 (GRCm39) |
missense |
probably null |
0.91 |
R0467:Gcfc2
|
UTSW |
6 |
81,900,863 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1105:Gcfc2
|
UTSW |
6 |
81,916,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R1521:Gcfc2
|
UTSW |
6 |
81,900,793 (GRCm39) |
missense |
probably benign |
0.14 |
R1602:Gcfc2
|
UTSW |
6 |
81,921,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1846:Gcfc2
|
UTSW |
6 |
81,933,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R2091:Gcfc2
|
UTSW |
6 |
81,920,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R2110:Gcfc2
|
UTSW |
6 |
81,900,759 (GRCm39) |
missense |
probably benign |
0.01 |
R2111:Gcfc2
|
UTSW |
6 |
81,900,759 (GRCm39) |
missense |
probably benign |
0.01 |
R2112:Gcfc2
|
UTSW |
6 |
81,900,759 (GRCm39) |
missense |
probably benign |
0.01 |
R2892:Gcfc2
|
UTSW |
6 |
81,933,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3792:Gcfc2
|
UTSW |
6 |
81,907,748 (GRCm39) |
missense |
probably benign |
0.00 |
R4284:Gcfc2
|
UTSW |
6 |
81,918,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4304:Gcfc2
|
UTSW |
6 |
81,919,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R4691:Gcfc2
|
UTSW |
6 |
81,918,408 (GRCm39) |
nonsense |
probably null |
|
R5046:Gcfc2
|
UTSW |
6 |
81,925,316 (GRCm39) |
missense |
probably benign |
0.12 |
R5233:Gcfc2
|
UTSW |
6 |
81,930,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:Gcfc2
|
UTSW |
6 |
81,921,367 (GRCm39) |
missense |
probably damaging |
0.97 |
R5308:Gcfc2
|
UTSW |
6 |
81,920,524 (GRCm39) |
critical splice donor site |
probably null |
|
R5929:Gcfc2
|
UTSW |
6 |
81,923,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R6339:Gcfc2
|
UTSW |
6 |
81,923,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R6485:Gcfc2
|
UTSW |
6 |
81,916,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6931:Gcfc2
|
UTSW |
6 |
81,919,966 (GRCm39) |
missense |
probably benign |
0.36 |
R6948:Gcfc2
|
UTSW |
6 |
81,910,734 (GRCm39) |
missense |
probably benign |
0.01 |
R7392:Gcfc2
|
UTSW |
6 |
81,919,993 (GRCm39) |
critical splice donor site |
probably null |
|
R7423:Gcfc2
|
UTSW |
6 |
81,923,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Gcfc2
|
UTSW |
6 |
81,930,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R7713:Gcfc2
|
UTSW |
6 |
81,918,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8089:Gcfc2
|
UTSW |
6 |
81,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R8249:Gcfc2
|
UTSW |
6 |
81,933,932 (GRCm39) |
missense |
probably benign |
0.02 |
R8366:Gcfc2
|
UTSW |
6 |
81,900,782 (GRCm39) |
missense |
probably benign |
0.05 |
R8553:Gcfc2
|
UTSW |
6 |
81,912,944 (GRCm39) |
missense |
probably benign |
0.01 |
R8560:Gcfc2
|
UTSW |
6 |
81,900,863 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8779:Gcfc2
|
UTSW |
6 |
81,925,298 (GRCm39) |
missense |
probably benign |
0.00 |
R8915:Gcfc2
|
UTSW |
6 |
81,918,347 (GRCm39) |
missense |
probably benign |
0.36 |
R8924:Gcfc2
|
UTSW |
6 |
81,909,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R9687:Gcfc2
|
UTSW |
6 |
81,918,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |