Incidental Mutation 'R2174:Fanca'
ID |
237705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fanca
|
Ensembl Gene |
ENSMUSG00000032815 |
Gene Name |
Fanconi anemia, complementation group A |
Synonyms |
|
MMRRC Submission |
040176-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.714)
|
Stock # |
R2174 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
123995039-124045315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123998009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1226
(W1226R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001092]
[ENSMUST00000035495]
[ENSMUST00000127664]
|
AlphaFold |
Q9JL70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001092
|
SMART Domains |
Protein: ENSMUSP00000001092 Gene: ENSMUSG00000001065
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
41 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:zf-AD
|
79 |
159 |
1.2e-13 |
PFAM |
low complexity region
|
402 |
422 |
N/A |
INTRINSIC |
ZnF_C2H2
|
434 |
458 |
2.24e-3 |
SMART |
ZnF_C2H2
|
465 |
490 |
6.67e-2 |
SMART |
ZnF_C2H2
|
496 |
518 |
1.38e-3 |
SMART |
ZnF_C2H2
|
524 |
546 |
1.82e-3 |
SMART |
ZnF_C2H2
|
554 |
577 |
4.79e-3 |
SMART |
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035495
AA Change: W1226R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000045217 Gene: ENSMUSG00000032815 AA Change: W1226R
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 |
noncoding transcript
Transcript: ENSMUST00000126834
|
SMART Domains |
Protein: ENSMUSP00000116732 Gene: ENSMUSG00000032815
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
low complexity region
|
142 |
167 |
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 |
noncoding transcript
Transcript: ENSMUST00000135702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156896
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155510
|
SMART Domains |
Protein: ENSMUSP00000118712 Gene: ENSMUSG00000032815
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
99% (73/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C10Rik |
T |
C |
7: 37,894,252 (GRCm39) |
I95T |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,131,632 (GRCm39) |
I619T |
probably benign |
Het |
Aldh2 |
T |
C |
5: 121,710,731 (GRCm39) |
|
probably benign |
Het |
Antxrl |
T |
A |
14: 33,782,357 (GRCm39) |
L180Q |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,386,760 (GRCm39) |
I289N |
probably benign |
Het |
Asxl3 |
T |
G |
18: 22,586,701 (GRCm39) |
S164A |
possibly damaging |
Het |
Cacnb2 |
C |
T |
2: 14,963,578 (GRCm39) |
T108I |
probably benign |
Het |
Capn2 |
A |
T |
1: 182,307,290 (GRCm39) |
I516N |
probably benign |
Het |
Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
Cenpo |
T |
C |
12: 4,267,318 (GRCm39) |
K73R |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,109 (GRCm38) |
I159V |
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,487,825 (GRCm39) |
H823R |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,409,175 (GRCm39) |
I404V |
probably damaging |
Het |
Ddx60 |
G |
T |
8: 62,470,234 (GRCm39) |
M1407I |
probably benign |
Het |
Dennd3 |
A |
T |
15: 73,427,154 (GRCm39) |
R844W |
probably damaging |
Het |
Depdc1b |
A |
T |
13: 108,498,787 (GRCm39) |
K157* |
probably null |
Het |
Dnai7 |
T |
C |
6: 145,120,896 (GRCm39) |
H641R |
probably damaging |
Het |
Dnajc1 |
T |
C |
2: 18,312,762 (GRCm39) |
D196G |
probably damaging |
Het |
Fbxl13 |
A |
G |
5: 21,787,046 (GRCm39) |
V297A |
possibly damaging |
Het |
Fnta |
A |
T |
8: 26,503,498 (GRCm39) |
F96I |
possibly damaging |
Het |
Fzd3 |
T |
C |
14: 65,449,680 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
C |
5: 31,484,353 (GRCm39) |
V597A |
possibly damaging |
Het |
Gm43302 |
T |
C |
5: 105,422,216 (GRCm39) |
K496R |
probably benign |
Het |
Gm5283 |
A |
G |
3: 17,285,005 (GRCm39) |
|
noncoding transcript |
Het |
Gm6741 |
A |
G |
17: 91,544,332 (GRCm39) |
I32V |
probably benign |
Het |
Gnptab |
T |
A |
10: 88,269,906 (GRCm39) |
F870I |
probably damaging |
Het |
Gpx8 |
G |
A |
13: 113,182,140 (GRCm39) |
P98S |
probably benign |
Het |
Grm2 |
T |
C |
9: 106,524,994 (GRCm39) |
I574V |
probably benign |
Het |
Gtf3c5 |
T |
C |
2: 28,457,787 (GRCm39) |
D468G |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,856,898 (GRCm39) |
M482L |
probably benign |
Het |
Ier5 |
G |
T |
1: 154,974,599 (GRCm39) |
P193H |
possibly damaging |
Het |
Inpp4a |
A |
G |
1: 37,435,211 (GRCm39) |
N827S |
probably damaging |
Het |
Kif13a |
A |
G |
13: 46,922,652 (GRCm39) |
L387P |
probably damaging |
Het |
Map3k1 |
G |
C |
13: 111,889,016 (GRCm39) |
H1314D |
possibly damaging |
Het |
Mbl2 |
G |
A |
19: 30,211,412 (GRCm39) |
C11Y |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,084,381 (GRCm39) |
L58P |
probably damaging |
Het |
Mtmr10 |
T |
A |
7: 63,986,512 (GRCm39) |
F530Y |
possibly damaging |
Het |
Myo7b |
A |
G |
18: 32,116,610 (GRCm39) |
L999P |
probably damaging |
Het |
Myoz3 |
T |
C |
18: 60,723,296 (GRCm39) |
E8G |
probably benign |
Het |
Naip6 |
C |
A |
13: 100,435,495 (GRCm39) |
M1009I |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,102,411 (GRCm39) |
M342K |
probably damaging |
Het |
Ndufaf6 |
T |
C |
4: 11,070,228 (GRCm39) |
H131R |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,148,849 (GRCm39) |
L152P |
probably damaging |
Het |
Or9s23 |
A |
G |
1: 92,501,379 (GRCm39) |
N162S |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,552,786 (GRCm39) |
Q2074L |
probably benign |
Het |
Pthlh |
G |
A |
6: 147,158,510 (GRCm39) |
T150I |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,541,414 (GRCm39) |
Y371N |
probably damaging |
Het |
Rfwd3 |
A |
G |
8: 112,009,975 (GRCm39) |
S377P |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sap130 |
T |
C |
18: 31,810,532 (GRCm39) |
|
probably null |
Het |
Sap25 |
T |
G |
5: 137,640,891 (GRCm39) |
M229R |
possibly damaging |
Het |
Scaper |
A |
T |
9: 55,766,321 (GRCm39) |
V479E |
probably null |
Het |
Scn3a |
T |
A |
2: 65,337,550 (GRCm39) |
D649V |
probably damaging |
Het |
Slco1a7 |
A |
T |
6: 141,673,319 (GRCm39) |
Y406* |
probably null |
Het |
Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
Sowahb |
T |
C |
5: 93,192,284 (GRCm39) |
E145G |
possibly damaging |
Het |
Stxbp5 |
T |
A |
10: 9,711,590 (GRCm39) |
I277F |
possibly damaging |
Het |
Tanc1 |
T |
C |
2: 59,674,177 (GRCm39) |
S1754P |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,801,135 (GRCm39) |
D1117G |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,815,137 (GRCm39) |
M605V |
possibly damaging |
Het |
Tekt3 |
A |
T |
11: 62,985,514 (GRCm39) |
D440V |
possibly damaging |
Het |
Tmem67 |
C |
T |
4: 12,063,730 (GRCm39) |
W477* |
probably null |
Het |
Tra2a |
T |
C |
6: 49,227,861 (GRCm39) |
|
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,380 (GRCm39) |
F51L |
possibly damaging |
Het |
Trrap |
C |
A |
5: 144,758,665 (GRCm39) |
P2183Q |
probably benign |
Het |
Ubn2 |
T |
A |
6: 38,447,076 (GRCm39) |
|
probably null |
Het |
Unc5d |
A |
T |
8: 29,184,568 (GRCm39) |
V644E |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,827,547 (GRCm39) |
L883P |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,959,721 (GRCm39) |
D616A |
possibly damaging |
Het |
Zfp943 |
T |
A |
17: 22,211,804 (GRCm39) |
C297S |
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 |
|
R0345:Fanca
|
UTSW |
8 |
124,031,552 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTGGCTCACAGTGTGGACAC -3'
(R):5'- ACTGTGTTTGAGAGGAGAGC -3'
Sequencing Primer
(F):5'- ACACTGGCTGGTAGCTTTATTCTAAG -3'
(R):5'- TTTGAGAGGAGAGCCCCTTGC -3'
|
Posted On |
2014-10-02 |