Incidental Mutation 'R8915:Gcfc2'
| ID |
678874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcfc2
|
| Ensembl Gene |
ENSMUSG00000035125 |
| Gene Name |
GC-rich sequence DNA binding factor 2 |
| Synonyms |
AW146020 |
| MMRRC Submission |
068703-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R8915 (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 81918347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 346
(K346E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043195]
[ENSMUST00000152996]
|
| AlphaFold |
Q8BKT3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043195
AA Change: K346E
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
AA Change: K346E
| 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
|
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
A |
7: 43,903,751 (GRCm39) |
H217L |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,558 (GRCm39) |
V877I |
probably damaging |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,763 (GRCm39) |
D1924E |
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,902 (GRCm39) |
E214V |
probably damaging |
Het |
| Calhm5 |
T |
C |
10: 33,968,415 (GRCm39) |
S213G |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,325,709 (GRCm39) |
L207P |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,876,612 (GRCm39) |
D71G |
probably damaging |
Het |
| Cdhr2 |
G |
T |
13: 54,874,184 (GRCm39) |
W752L |
probably benign |
Het |
| Clec1b |
T |
C |
6: 129,382,212 (GRCm39) |
*230Q |
probably null |
Het |
| Ctbs |
T |
C |
3: 146,169,724 (GRCm39) |
V327A |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,795,991 (GRCm39) |
I129N |
probably benign |
Het |
| Dnajc10 |
T |
A |
2: 80,147,801 (GRCm39) |
L21H |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,156,736 (GRCm39) |
D1487G |
probably benign |
Het |
| Epb42 |
T |
C |
2: 120,849,987 (GRCm39) |
Q674R |
possibly damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,958 (GRCm39) |
Y16C |
unknown |
Het |
| Fto |
T |
C |
8: 92,136,471 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpam |
A |
G |
19: 55,077,312 (GRCm39) |
S160P |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,531,885 (GRCm39) |
V277I |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,318,456 (GRCm39) |
Y1243H |
probably damaging |
Het |
| Hhat |
C |
T |
1: 192,277,203 (GRCm39) |
E419K |
probably benign |
Het |
| Hsd17b11 |
T |
C |
5: 104,140,802 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Lactbl1 |
G |
T |
4: 136,360,243 (GRCm39) |
A141S |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,854,927 (GRCm39) |
D65G |
possibly damaging |
Het |
| Nfkbie |
A |
G |
17: 45,871,067 (GRCm39) |
I240V |
probably benign |
Het |
| Nim1k |
T |
A |
13: 120,173,874 (GRCm39) |
D340V |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,876,449 (GRCm39) |
K498R |
possibly damaging |
Het |
| Or52e2 |
C |
T |
7: 102,804,411 (GRCm39) |
C181Y |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,957 (GRCm39) |
S357P |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,472,098 (GRCm39) |
E384K |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,136,376 (GRCm39) |
V528A |
probably damaging |
Het |
| Rbm34 |
A |
G |
8: 127,679,908 (GRCm39) |
|
probably benign |
Het |
| Rnd1 |
A |
G |
15: 98,575,181 (GRCm39) |
V17A |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 51,977,805 (GRCm39) |
|
probably benign |
Het |
| Samd14 |
A |
C |
11: 94,912,027 (GRCm39) |
D168A |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,123,432 (GRCm39) |
S484G |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,603,363 (GRCm39) |
W1101* |
probably null |
Het |
| Scrn3 |
T |
A |
2: 73,148,636 (GRCm39) |
V69D |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,309 (GRCm39) |
T161A |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,080,064 (GRCm39) |
A873D |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,868,658 (GRCm39) |
I389N |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,016,415 (GRCm39) |
L690P |
probably damaging |
Het |
| Trip13 |
T |
C |
13: 74,081,085 (GRCm39) |
T94A |
probably benign |
Het |
| Vmn1r114 |
A |
T |
7: 20,545,171 (GRCm39) |
L314* |
probably null |
Het |
| Vmn2r44 |
A |
G |
7: 8,370,650 (GRCm39) |
Y799H |
probably damaging |
Het |
| Zfp574 |
T |
C |
7: 24,780,769 (GRCm39) |
L597P |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,507 (GRCm39) |
C247S |
probably benign |
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 |
|
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 |
|
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'- ATTTGTGACTTGCACTAATATTGGAAC -3'
(R):5'- CCTTCAAATGCCAGGTGCG -3'
Sequencing Primer
(F):5'- CCAGCACACTACTTTTGTG -3'
(R):5'- TCCACGGTTCTATTAGAAAGCAGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation