Incidental Mutation 'R3792:Gcfc2'
ID |
272585 |
Institutional Source |
Beutler Lab
|
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 # |
R3792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
81900650-81936896 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 81907748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 154
(C154F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043195]
[ENSMUST00000152996]
|
AlphaFold |
Q8BKT3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043195
AA Change: C154F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035644 Gene: ENSMUSG00000035125 AA Change: C154F
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: ENSMUST00000132301
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147673
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152996
AA Change: C154F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138136 Gene: ENSMUSG00000035125 AA Change: C154F
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 |
noncoding transcript
Transcript: ENSMUST00000204691
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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 |
4930595M18Rik |
A |
G |
X: 80,464,423 (GRCm39) |
V428A |
probably benign |
Het |
Aanat |
T |
C |
11: 116,487,057 (GRCm39) |
L88P |
probably damaging |
Het |
Arhgap5 |
A |
T |
12: 52,566,671 (GRCm39) |
N1214I |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,543 (GRCm39) |
S192T |
probably damaging |
Het |
Bco1 |
G |
A |
8: 117,857,415 (GRCm39) |
V461I |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cripto |
C |
T |
9: 110,772,258 (GRCm39) |
R46Q |
probably benign |
Het |
Cubn |
G |
A |
2: 13,432,725 (GRCm39) |
R1199C |
probably damaging |
Het |
Dcaf12l1 |
T |
C |
X: 43,877,313 (GRCm39) |
N495S |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,568,734 (GRCm39) |
Q1599K |
possibly damaging |
Het |
Dyrk1a |
C |
A |
16: 94,485,933 (GRCm39) |
L427I |
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
F8 |
A |
T |
X: 74,328,971 (GRCm39) |
|
probably null |
Het |
Fam135a |
T |
C |
1: 24,067,392 (GRCm39) |
Y259C |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,666,533 (GRCm39) |
|
probably null |
Het |
Fbxo43 |
T |
C |
15: 36,163,005 (GRCm39) |
I67M |
probably benign |
Het |
Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
Ilk |
G |
A |
7: 105,391,294 (GRCm39) |
W73* |
probably null |
Het |
Ism1 |
T |
C |
2: 139,582,173 (GRCm39) |
S162P |
probably damaging |
Het |
Itpkb |
T |
A |
1: 180,160,738 (GRCm39) |
L288Q |
possibly damaging |
Het |
Itpr2 |
C |
A |
6: 146,316,852 (GRCm39) |
K306N |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,374,540 (GRCm39) |
E864K |
possibly damaging |
Het |
Kdm4b |
G |
A |
17: 56,662,944 (GRCm39) |
V172M |
probably damaging |
Het |
Kyat3 |
A |
T |
3: 142,443,605 (GRCm39) |
K406M |
probably null |
Het |
Lipe |
T |
A |
7: 25,097,045 (GRCm39) |
K299N |
possibly damaging |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Mptx2 |
T |
A |
1: 173,102,240 (GRCm39) |
I150F |
probably damaging |
Het |
Mroh2b |
G |
T |
15: 4,953,102 (GRCm39) |
W612L |
probably damaging |
Het |
Mucl2 |
T |
C |
15: 103,928,692 (GRCm39) |
T27A |
possibly damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Oprm1 |
T |
C |
10: 6,789,544 (GRCm39) |
S390P |
probably benign |
Het |
Or2m12 |
A |
G |
16: 19,104,696 (GRCm39) |
S266P |
possibly damaging |
Het |
Or51v8 |
A |
T |
7: 103,319,353 (GRCm39) |
I295N |
probably damaging |
Het |
Pcdhb14 |
T |
C |
18: 37,582,715 (GRCm39) |
L607P |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,671,721 (GRCm39) |
I133N |
probably damaging |
Het |
Rasl10a |
T |
C |
11: 5,009,461 (GRCm39) |
L83S |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,884,779 (GRCm39) |
V382M |
probably damaging |
Het |
Sh3gl1 |
T |
C |
17: 56,325,949 (GRCm39) |
K160R |
probably damaging |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,704,622 (GRCm39) |
I454T |
probably damaging |
Het |
Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
Tcstv7b |
G |
T |
13: 120,702,467 (GRCm39) |
V88F |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,600,155 (GRCm39) |
K95R |
probably benign |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,783,231 (GRCm39) |
E511V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,232 (GRCm39) |
F25258L |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,639,290 (GRCm39) |
C13828G |
probably damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,573 (GRCm39) |
M238L |
probably damaging |
Het |
Vmn1r38 |
A |
G |
6: 66,753,891 (GRCm39) |
I75T |
probably benign |
Het |
Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
Vwa7 |
T |
C |
17: 35,244,135 (GRCm39) |
|
probably null |
Het |
Zfp128 |
T |
A |
7: 12,618,659 (GRCm39) |
D52E |
probably damaging |
Het |
Zfp618 |
T |
C |
4: 63,033,728 (GRCm39) |
|
probably benign |
Het |
Zkscan2 |
T |
A |
7: 123,084,225 (GRCm39) |
E633V |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGGTGACGTTTAGGAGCACG -3'
(R):5'- AAGAGCAAGTCCACTCCTGC -3'
Sequencing Primer
(F):5'- TAGGAGCACGGTGCCTTG -3'
(R):5'- TCCTGCAGTGAAAACGTCATG -3'
|
Posted On |
2015-03-25 |