Incidental Mutation 'IGL00497:Gcfc2'
ID |
5424 |
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: 0.479)
|
Stock # |
IGL00497
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
81900650-81936896 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 81934951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 737
(I737L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035644
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032124]
[ENSMUST00000043195]
[ENSMUST00000152996]
|
AlphaFold |
Q8BKT3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032124
|
SMART Domains |
Protein: ENSMUSP00000032124 Gene: ENSMUSG00000030045
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L19
|
92 |
198 |
9e-19 |
PFAM |
SCOP:d1fura_
|
214 |
282 |
2e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043195
AA Change: I737L
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000035644 Gene: ENSMUSG00000035125 AA Change: I737L
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: ENSMUST00000128374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148025
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203959
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
G |
A |
3: 79,538,598 (GRCm39) |
|
probably benign |
Het |
Aatk |
C |
T |
11: 119,901,012 (GRCm39) |
R1128Q |
probably benign |
Het |
Acot6 |
C |
T |
12: 84,156,212 (GRCm39) |
R387C |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,660,973 (GRCm39) |
E118G |
probably damaging |
Het |
Adcyap1r1 |
G |
A |
6: 55,449,264 (GRCm39) |
V73I |
probably damaging |
Het |
Apol8 |
T |
C |
15: 77,634,214 (GRCm39) |
T121A |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,163,759 (GRCm39) |
N1076D |
probably damaging |
Het |
Ccdc91 |
C |
A |
6: 147,508,485 (GRCm39) |
Q404K |
unknown |
Het |
Cpt1b |
T |
C |
15: 89,306,496 (GRCm39) |
K294R |
probably benign |
Het |
Dnah6 |
A |
C |
6: 73,172,744 (GRCm39) |
V238G |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,663,536 (GRCm39) |
S1920P |
probably damaging |
Het |
Gmeb1 |
A |
G |
4: 131,955,296 (GRCm39) |
V293A |
probably benign |
Het |
Gpi-ps |
T |
C |
8: 5,690,563 (GRCm39) |
|
noncoding transcript |
Het |
Hibch |
A |
G |
1: 52,924,349 (GRCm39) |
|
probably benign |
Het |
Ifnab |
A |
G |
4: 88,609,419 (GRCm39) |
Y16H |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,451,132 (GRCm39) |
V155A |
probably damaging |
Het |
Lrr1 |
A |
G |
12: 69,221,356 (GRCm39) |
H166R |
probably benign |
Het |
Map4k5 |
G |
T |
12: 69,892,506 (GRCm39) |
A141E |
probably damaging |
Het |
Mettl17 |
A |
T |
14: 52,126,292 (GRCm39) |
K233N |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,862,204 (GRCm39) |
L740S |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,253,979 (GRCm39) |
I1051S |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,058,834 (GRCm39) |
F944S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,233,314 (GRCm39) |
Y611C |
probably damaging |
Het |
Npat |
A |
G |
9: 53,478,100 (GRCm39) |
N951D |
possibly damaging |
Het |
Osmr |
T |
C |
15: 6,876,547 (GRCm39) |
S126G |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,655,206 (GRCm39) |
Y1755C |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,941,423 (GRCm39) |
|
probably benign |
Het |
Prex2 |
T |
A |
1: 11,256,876 (GRCm39) |
M1196K |
possibly damaging |
Het |
Prkd1 |
A |
T |
12: 50,430,264 (GRCm39) |
D614E |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,124,967 (GRCm39) |
L794P |
probably damaging |
Het |
Rb1 |
C |
T |
14: 73,502,038 (GRCm39) |
R449H |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,474,652 (GRCm39) |
D469G |
probably benign |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,130 (GRCm39) |
|
probably benign |
Het |
Slc11a1 |
A |
G |
1: 74,421,057 (GRCm39) |
|
probably null |
Het |
Snw1 |
A |
G |
12: 87,499,350 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,339,533 (GRCm39) |
I143T |
probably damaging |
Het |
Tcta |
A |
T |
9: 108,183,115 (GRCm39) |
L10Q |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,761,831 (GRCm39) |
|
probably benign |
Het |
Trmt1 |
T |
C |
8: 85,422,138 (GRCm39) |
M254T |
possibly damaging |
Het |
Trps1 |
T |
A |
15: 50,524,703 (GRCm39) |
M887L |
possibly damaging |
Het |
Zfyve28 |
A |
G |
5: 34,400,539 (GRCm39) |
V53A |
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 |
IGL02135:Gcfc2
|
APN |
6 |
81,918,381 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |