Incidental Mutation 'R0345:Fanca'
| ID |
38394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fanca
|
| Ensembl Gene |
ENSMUSG00000032815 |
| Gene Name |
Fanconi anemia, complementation group A |
| Synonyms |
|
| MMRRC Submission |
038552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.714)
|
| Stock # |
R0345 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123995039-124045315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124031552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 380
(V380I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035495]
[ENSMUST00000118395]
[ENSMUST00000127664]
[ENSMUST00000127904]
|
| AlphaFold |
Q9JL70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035495
AA Change: V380I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: V380I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:Fanconi_A_N
|
167 |
520 |
3.7e-146 |
PFAM |
|
low complexity region
|
645 |
660 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
low complexity region
|
1069 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1200 |
1225 |
N/A |
INTRINSIC |
|
Pfam:Fanconi_A
|
1246 |
1308 |
8.4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118395
AA Change: V380I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113125
Gene: ENSMUSG00000032815
AA Change: V380I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127904
AA Change: V282I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: V282I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
547 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212953
|
| Meta Mutation Damage Score |
0.0865 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
C |
14: 59,377,079 (GRCm39) |
N105D |
possibly damaging |
Het |
| A2m |
T |
C |
6: 121,615,231 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,415,198 (GRCm39) |
N641S |
probably damaging |
Het |
| Aff4 |
T |
A |
11: 53,263,708 (GRCm39) |
S243T |
probably benign |
Het |
| Agap2 |
A |
G |
10: 126,923,764 (GRCm39) |
H713R |
unknown |
Het |
| Ap2a2 |
T |
A |
7: 141,211,206 (GRCm39) |
M914K |
probably damaging |
Het |
| Bcl7c |
A |
T |
7: 127,307,635 (GRCm39) |
M22K |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,256,663 (GRCm39) |
D1019V |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,012 (GRCm39) |
T80A |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,029,755 (GRCm39) |
Y130H |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,808,872 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
G |
9: 54,942,878 (GRCm39) |
V132A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,402,619 (GRCm39) |
D110G |
probably benign |
Het |
| Cyp2d37-ps |
A |
T |
15: 82,573,975 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah6 |
T |
C |
6: 72,998,240 (GRCm39) |
M4061V |
probably benign |
Het |
| Dydc2 |
C |
A |
14: 40,783,903 (GRCm39) |
M73I |
probably benign |
Het |
| Egflam |
G |
T |
15: 7,319,475 (GRCm39) |
|
probably null |
Het |
| Fam228b |
C |
T |
12: 4,798,351 (GRCm39) |
V151I |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,313,944 (GRCm39) |
L408S |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,648,507 (GRCm39) |
S66G |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,892,154 (GRCm39) |
V407D |
possibly damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,413 (GRCm39) |
D182E |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,740,818 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,114,313 (GRCm39) |
N140K |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,701 (GRCm39) |
E1518G |
probably damaging |
Het |
| Myof |
A |
T |
19: 38,012,793 (GRCm39) |
N47K |
probably damaging |
Het |
| Nckap1 |
G |
T |
2: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 71,014,501 (GRCm39) |
G250W |
probably damaging |
Het |
| Nol4l |
T |
A |
2: 153,253,672 (GRCm39) |
S390C |
probably benign |
Het |
| Or2ag2b |
T |
C |
7: 106,417,908 (GRCm39) |
F206S |
probably benign |
Het |
| Or52e18 |
T |
A |
7: 104,609,388 (GRCm39) |
M184L |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,685 (GRCm39) |
Q64R |
possibly damaging |
Het |
| Or5h26 |
G |
A |
16: 58,988,269 (GRCm39) |
P79L |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,061,367 (GRCm39) |
P2886T |
probably damaging |
Het |
| Prdm16 |
T |
C |
4: 154,425,568 (GRCm39) |
Y738C |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,016,164 (GRCm39) |
Y820C |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,718,019 (GRCm39) |
P98S |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,672 (GRCm39) |
A84V |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,170 (GRCm39) |
S373P |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,185,218 (GRCm39) |
V953I |
probably benign |
Het |
| Spata31f1a |
T |
C |
4: 42,851,116 (GRCm39) |
I347V |
probably benign |
Het |
| St7l |
T |
C |
3: 104,803,125 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,307,097 (GRCm39) |
V217A |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,108,670 (GRCm39) |
D215E |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,385,569 (GRCm39) |
V256I |
probably benign |
Het |
| Syt13 |
A |
C |
2: 92,776,412 (GRCm39) |
E233A |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,295,514 (GRCm39) |
E327V |
probably damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,522 (GRCm39) |
Q131L |
probably benign |
Het |
| Themis3 |
A |
T |
17: 66,866,540 (GRCm39) |
|
probably null |
Het |
| Ttll13 |
T |
A |
7: 79,897,084 (GRCm39) |
D14E |
probably benign |
Het |
| Tubb2a |
A |
C |
13: 34,260,620 (GRCm39) |
D26E |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,584 (GRCm39) |
|
probably null |
Het |
| Vps13d |
A |
T |
4: 144,844,195 (GRCm39) |
V2537E |
possibly damaging |
Het |
| Zscan10 |
T |
A |
17: 23,829,056 (GRCm39) |
F456I |
probably damaging |
Het |
| Zyg11b |
A |
G |
4: 108,123,604 (GRCm39) |
I121T |
probably damaging |
Het |
|
| Other mutations in Fanca |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02348:Fanca
|
APN |
8 |
124,032,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Fanca
|
APN |
8 |
124,016,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03280:Fanca
|
APN |
8 |
124,043,198 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4402001:Fanca
|
UTSW |
8 |
124,039,803 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0114:Fanca
|
UTSW |
8 |
124,015,230 (GRCm39) |
splice site |
probably null |
|
|
R0115:Fanca
|
UTSW |
8 |
123,995,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0271:Fanca
|
UTSW |
8 |
123,999,180 (GRCm39) |
unclassified |
probably benign |
|
|
R0330:Fanca
|
UTSW |
8 |
124,000,911 (GRCm39) |
nonsense |
probably null |
|
|
R0570:Fanca
|
UTSW |
8 |
124,033,169 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0601:Fanca
|
UTSW |
8 |
124,035,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0617:Fanca
|
UTSW |
8 |
124,014,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Fanca
|
UTSW |
8 |
124,016,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0943:Fanca
|
UTSW |
8 |
124,000,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1140:Fanca
|
UTSW |
8 |
124,039,868 (GRCm39) |
splice site |
probably null |
|
|
R1364:Fanca
|
UTSW |
8 |
124,031,020 (GRCm39) |
splice site |
probably benign |
|
|
R1366:Fanca
|
UTSW |
8 |
124,031,020 (GRCm39) |
splice site |
probably benign |
|
|
R1367:Fanca
|
UTSW |
8 |
124,031,020 (GRCm39) |
splice site |
probably benign |
|
|
R1368:Fanca
|
UTSW |
8 |
124,031,020 (GRCm39) |
splice site |
probably benign |
|
|
R1969:Fanca
|
UTSW |
8 |
124,014,803 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1992:Fanca
|
UTSW |
8 |
124,024,551 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2060:Fanca
|
UTSW |
8 |
124,001,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Fanca
|
UTSW |
8 |
123,998,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2261:Fanca
|
UTSW |
8 |
124,016,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3957:Fanca
|
UTSW |
8 |
124,043,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4062:Fanca
|
UTSW |
8 |
124,001,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4153:Fanca
|
UTSW |
8 |
124,031,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4270:Fanca
|
UTSW |
8 |
123,995,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Fanca
|
UTSW |
8 |
124,015,532 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4581:Fanca
|
UTSW |
8 |
124,001,077 (GRCm39) |
splice site |
probably null |
|
|
R4639:Fanca
|
UTSW |
8 |
124,044,889 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4664:Fanca
|
UTSW |
8 |
123,995,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Fanca
|
UTSW |
8 |
123,995,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4666:Fanca
|
UTSW |
8 |
123,995,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4686:Fanca
|
UTSW |
8 |
123,995,673 (GRCm39) |
splice site |
probably benign |
|
|
R4775:Fanca
|
UTSW |
8 |
124,023,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4782:Fanca
|
UTSW |
8 |
124,014,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Fanca
|
UTSW |
8 |
124,014,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Fanca
|
UTSW |
8 |
124,030,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4973:Fanca
|
UTSW |
8 |
124,035,261 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5039:Fanca
|
UTSW |
8 |
124,010,785 (GRCm39) |
missense |
probably benign |
|
|
R5195:Fanca
|
UTSW |
8 |
124,030,684 (GRCm39) |
intron |
probably benign |
|
|
R5590:Fanca
|
UTSW |
8 |
124,030,702 (GRCm39) |
intron |
probably benign |
|
|
R5848:Fanca
|
UTSW |
8 |
124,021,792 (GRCm39) |
intron |
probably benign |
|
|
R5965:Fanca
|
UTSW |
8 |
124,043,149 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6224:Fanca
|
UTSW |
8 |
124,032,020 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6385:Fanca
|
UTSW |
8 |
124,032,606 (GRCm39) |
splice site |
probably null |
|
|
R6762:Fanca
|
UTSW |
8 |
123,998,042 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6795:Fanca
|
UTSW |
8 |
124,045,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6810:Fanca
|
UTSW |
8 |
124,013,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7153:Fanca
|
UTSW |
8 |
124,043,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Fanca
|
UTSW |
8 |
123,997,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Fanca
|
UTSW |
8 |
124,013,216 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7366:Fanca
|
UTSW |
8 |
124,007,952 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7599:Fanca
|
UTSW |
8 |
123,997,999 (GRCm39) |
missense |
probably benign |
|
|
R7639:Fanca
|
UTSW |
8 |
124,018,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7650:Fanca
|
UTSW |
8 |
123,995,303 (GRCm39) |
splice site |
probably null |
|
|
R8066:Fanca
|
UTSW |
8 |
124,030,679 (GRCm39) |
missense |
unknown |
|
|
R8247:Fanca
|
UTSW |
8 |
124,010,694 (GRCm39) |
unclassified |
probably benign |
|
|
R8312:Fanca
|
UTSW |
8 |
123,996,549 (GRCm39) |
intron |
probably benign |
|
|
R8327:Fanca
|
UTSW |
8 |
124,039,984 (GRCm39) |
nonsense |
probably null |
|
|
R8719:Fanca
|
UTSW |
8 |
124,014,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Fanca
|
UTSW |
8 |
123,995,209 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8987:Fanca
|
UTSW |
8 |
124,024,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Fanca
|
UTSW |
8 |
124,035,307 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9319:Fanca
|
UTSW |
8 |
124,018,190 (GRCm39) |
missense |
probably benign |
|
|
R9471:Fanca
|
UTSW |
8 |
124,000,897 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9542:Fanca
|
UTSW |
8 |
124,023,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9656:Fanca
|
UTSW |
8 |
124,031,482 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9708:Fanca
|
UTSW |
8 |
124,001,263 (GRCm39) |
nonsense |
probably null |
|
|
V7732:Fanca
|
UTSW |
8 |
124,031,020 (GRCm39) |
splice site |
probably benign |
|
|
X0025:Fanca
|
UTSW |
8 |
124,003,287 (GRCm39) |
intron |
probably benign |
|
|
X0062:Fanca
|
UTSW |
8 |
124,031,591 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Fanca
|
UTSW |
8 |
124,039,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCTACAGTGTGGGACAAGAC -3'
(R):5'- GGCAGAGCCTTTTCCTTCTCAGAAC -3'
Sequencing Primer
(F):5'- TGTGGGACAAGACTCACATCTG -3'
(R):5'- ATATGGCAGCCACTGTTGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation