Incidental Mutation 'R6948:Gcfc2'
| ID |
557068 |
| 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 # |
R6948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
81900650-81936896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81910734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 237
(E237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043195]
[ENSMUST00000152996]
|
| AlphaFold |
Q8BKT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043195
|
| SMART Domains |
Protein: ENSMUSP00000035644
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 |
|
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 |
probably benign
Transcript: ENSMUST00000152996
AA Change: E237G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125
AA Change: E237G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (36/37) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
| Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
| Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
| Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
| Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
| Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
| Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
| Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,432,601 (GRCm39) |
S196C |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
| Zpr1 |
T |
G |
9: 46,184,939 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGCAGCTTAAAGTCCAGCAGATATG -3'
(R):5'- GTGGTAAAACACTGACCAAGGC -3'
Sequencing Primer
(F):5'- TCCAGCAGATATGGAAGATGGCTG -3'
(R):5'- GGAAACTCAAGGCTCGAACCTC -3'
|
| Posted On |
2019-06-10 |
Incidental Mutation