Incidental Mutation 'R5309:Fancg'
| ID |
404700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancg
|
| Ensembl Gene |
ENSMUSG00000028453 |
| Gene Name |
Fanconi anemia, complementation group G |
| Synonyms |
Xrcc9 |
| MMRRC Submission |
042892-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.517)
|
| Stock # |
R5309 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43002343-43010506 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43003019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 613
(F613L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030164]
[ENSMUST00000030165]
|
| AlphaFold |
Q9EQR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030164
|
| SMART Domains |
Protein: ENSMUSP00000030164
Gene: ENSMUSG00000028452
| Domain | Start | End | E-Value | Type |
|---|
|
CDC48_N
|
25 |
108 |
6.85e-27 |
SMART |
|
CDC48_2
|
125 |
191 |
3.77e-15 |
SMART |
|
AAA
|
237 |
373 |
7.87e-24 |
SMART |
|
AAA
|
510 |
649 |
2e-25 |
SMART |
|
Pfam:Vps4_C
|
710 |
762 |
3.5e-7 |
PFAM |
|
low complexity region
|
775 |
794 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030165
AA Change: F613L
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000030165
Gene: ENSMUSG00000028453
AA Change: F613L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
199 |
N/A |
INTRINSIC |
|
Pfam:TPR_1
|
251 |
280 |
4.1e-6 |
PFAM |
|
Pfam:TPR_2
|
251 |
281 |
7.3e-5 |
PFAM |
|
Pfam:TPR_8
|
251 |
281 |
4.5e-3 |
PFAM |
|
low complexity region
|
302 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
418 |
N/A |
INTRINSIC |
|
Blast:TPR
|
458 |
491 |
4e-9 |
BLAST |
|
Blast:TPR
|
518 |
550 |
2e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148182
|
| Meta Mutation Damage Score |
0.1162 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Females and males homozygous for targeted null mutations exhibit hypogonadism and reduced fertility. Cytogeneic analysis showed somatic chromosome aberrations occur at a higher spontaneous rate and are easier to induce than in normal cells. Cells are also more sensitive to mitomycin C. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,540 (GRCm39) |
Q72R |
unknown |
Het |
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,465 (GRCm39) |
C577G |
possibly damaging |
Het |
| Adamtsl5 |
A |
T |
10: 80,180,982 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,265,652 (GRCm39) |
T232A |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,574,110 (GRCm39) |
H258R |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,793 (GRCm39) |
I192F |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,861,703 (GRCm39) |
G1161S |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,195,853 (GRCm39) |
E28* |
probably null |
Het |
| Fam118a |
C |
T |
15: 84,934,956 (GRCm39) |
T195M |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,346,178 (GRCm39) |
R219K |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,639 (GRCm39) |
E1285V |
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,481 (GRCm39) |
|
probably benign |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,634 (GRCm39) |
V689A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,715 (GRCm39) |
|
probably benign |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,418 (GRCm39) |
V275E |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,352 (GRCm39) |
S520P |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
C |
8: 13,111,049 (GRCm39) |
L7P |
probably damaging |
Het |
| Ptpn13 |
G |
A |
5: 103,688,919 (GRCm39) |
S904N |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,820,562 (GRCm39) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,164 (GRCm39) |
V18A |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,756,958 (GRCm39) |
C269S |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,830 (GRCm39) |
E651G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,194,324 (GRCm39) |
Q956* |
probably null |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,730,716 (GRCm39) |
K268E |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,155 (GRCm39) |
E996G |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,663,380 (GRCm39) |
D184G |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,880 (GRCm39) |
I94N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Fancg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Fancg
|
APN |
4 |
43,003,910 (GRCm39) |
nonsense |
probably null |
|
|
IGL02072:Fancg
|
APN |
4 |
43,007,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02184:Fancg
|
APN |
4 |
43,006,872 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02989:Fancg
|
APN |
4 |
43,007,121 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Fancg
|
UTSW |
4 |
43,002,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1581:Fancg
|
UTSW |
4 |
43,007,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Fancg
|
UTSW |
4 |
43,009,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2046:Fancg
|
UTSW |
4 |
43,004,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Fancg
|
UTSW |
4 |
43,008,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Fancg
|
UTSW |
4 |
43,003,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Fancg
|
UTSW |
4 |
43,008,897 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4583:Fancg
|
UTSW |
4 |
43,002,991 (GRCm39) |
missense |
probably benign |
|
|
R4671:Fancg
|
UTSW |
4 |
43,005,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4887:Fancg
|
UTSW |
4 |
43,006,866 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5312:Fancg
|
UTSW |
4 |
43,003,019 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5325:Fancg
|
UTSW |
4 |
43,006,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5379:Fancg
|
UTSW |
4 |
43,002,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Fancg
|
UTSW |
4 |
43,007,076 (GRCm39) |
nonsense |
probably null |
|
|
R5649:Fancg
|
UTSW |
4 |
43,008,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Fancg
|
UTSW |
4 |
43,007,130 (GRCm39) |
intron |
probably benign |
|
|
R5802:Fancg
|
UTSW |
4 |
43,006,582 (GRCm39) |
missense |
probably benign |
|
|
R6217:Fancg
|
UTSW |
4 |
43,010,084 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6698:Fancg
|
UTSW |
4 |
43,007,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7092:Fancg
|
UTSW |
4 |
43,004,831 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7527:Fancg
|
UTSW |
4 |
43,010,116 (GRCm39) |
start gained |
probably benign |
|
|
R7664:Fancg
|
UTSW |
4 |
43,010,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7979:Fancg
|
UTSW |
4 |
43,004,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Fancg
|
UTSW |
4 |
43,005,036 (GRCm39) |
splice site |
probably null |
|
|
R8473:Fancg
|
UTSW |
4 |
43,004,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Fancg
|
UTSW |
4 |
43,007,266 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9166:Fancg
|
UTSW |
4 |
43,006,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9243:Fancg
|
UTSW |
4 |
43,006,565 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCTGGAACTAGACTGGTAG -3'
(R):5'- CTGTGCTTCTGAGACCTAGC -3'
Sequencing Primer
(F):5'- CTGGTAGCAAGTAGATCAAGGTTCAC -3'
(R):5'- CAGGTCTCTTCCACTGTAT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation