Incidental Mutation 'R8989:Fancc'
| ID |
684308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancc
|
| Ensembl Gene |
ENSMUSG00000021461 |
| Gene Name |
Fanconi anemia, complementation group C |
| Synonyms |
Facc |
| MMRRC Submission |
068821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R8989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
63452519-63645126 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63548090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 70
(L70M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073029]
[ENSMUST00000099444]
[ENSMUST00000159024]
[ENSMUST00000160617]
[ENSMUST00000160931]
[ENSMUST00000161977]
[ENSMUST00000162375]
[ENSMUST00000162971]
[ENSMUST00000163091]
[ENSMUST00000220684]
|
| AlphaFold |
P50652 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073029
AA Change: L70M
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072788
Gene: ENSMUSG00000021461
AA Change: L70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
558 |
1.8e-305 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099444
|
| SMART Domains |
Protein: ENSMUSP00000097043
Gene: ENSMUSG00000021461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
461 |
5.8e-243 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000124325
Gene: ENSMUSG00000021461
AA Change: L87M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
199 |
1.8e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160735
|
| SMART Domains |
Protein: ENSMUSP00000125710
Gene: ENSMUSG00000021461
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
91 |
5.1e-37 |
PFAM |
|
Pfam:Fanconi_C
|
86 |
117 |
5.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160931
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161977
AA Change: L70M
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123817
Gene: ENSMUSG00000021461
AA Change: L70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
558 |
1.8e-305 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162375
AA Change: L70M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124759
Gene: ENSMUSG00000021461
AA Change: L70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
212 |
1.6e-125 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162971
AA Change: L70M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123972
Gene: ENSMUSG00000021461
AA Change: L70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
229 |
5.7e-136 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163091
AA Change: L70M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124406
Gene: ENSMUSG00000021461
AA Change: L70M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fanconi_C
|
1 |
517 |
4.8e-238 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220684
AA Change: L70M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (62/62) |
| 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 C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are grossly normal, but chromosome aberrations and sensitivity to DNA crosslinkers are seen. Both sexes have fewer germ cell numbers and impaired fertility. Marrow progenitors show decrease in colony forming ability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,760,724 (GRCm39) |
I1260M |
probably benign |
Het |
| A1cf |
T |
A |
19: 31,904,556 (GRCm39) |
F273Y |
possibly damaging |
Het |
| A3galt2 |
T |
C |
4: 128,655,231 (GRCm39) |
W45R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,588,948 (GRCm39) |
E460G |
probably damaging |
Het |
| Ago1 |
T |
A |
4: 126,357,583 (GRCm39) |
T31S |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,298,191 (GRCm39) |
T110S |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 52,927,654 (GRCm39) |
F188S |
probably damaging |
Het |
| Asic2 |
G |
A |
11: 81,043,180 (GRCm39) |
P38S |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,499,890 (GRCm39) |
C1000S |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,136,269 (GRCm39) |
C1132* |
probably null |
Het |
| Atp7b |
A |
T |
8: 22,510,911 (GRCm39) |
S527T |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,025 (GRCm39) |
T763I |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,954,783 (GRCm39) |
L118P |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,696,250 (GRCm39) |
E589G |
unknown |
Het |
| Col6a2 |
T |
C |
10: 76,440,015 (GRCm39) |
D630G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,383,458 (GRCm39) |
T447I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,912,059 (GRCm39) |
L1227S |
probably damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,310 (GRCm39) |
E29* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,962,196 (GRCm39) |
Q269L |
probably damaging |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,959,425 (GRCm39) |
M1041K |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,663,446 (GRCm39) |
V1014A |
possibly damaging |
Het |
| Galnt1 |
C |
T |
18: 24,402,567 (GRCm39) |
T308I |
possibly damaging |
Het |
| Garre1 |
T |
C |
7: 33,956,869 (GRCm39) |
Q332R |
probably damaging |
Het |
| Gpr63 |
T |
A |
4: 25,007,357 (GRCm39) |
V27D |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,536,822 (GRCm39) |
V78A |
probably damaging |
Het |
| Hexd |
T |
A |
11: 121,109,136 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,668,960 (GRCm39) |
T479A |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,544 (GRCm39) |
D711G |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,912 (GRCm39) |
F61Y |
probably damaging |
Het |
| Insrr |
T |
A |
3: 87,722,664 (GRCm39) |
N1295K |
probably damaging |
Het |
| Kif5b |
T |
A |
18: 6,209,021 (GRCm39) |
R914W |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,708,660 (GRCm39) |
T113A |
probably benign |
Het |
| Mmp21 |
T |
C |
7: 133,276,746 (GRCm39) |
D419G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,313,628 (GRCm39) |
T204A |
possibly damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,587 (GRCm39) |
T201A |
probably benign |
Het |
| Nup160 |
T |
A |
2: 90,548,208 (GRCm39) |
N980K |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,268,464 (GRCm39) |
K352E |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,346 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,542 (GRCm39) |
F257L |
probably benign |
Het |
| Or2d3c |
T |
A |
7: 106,526,366 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,476 (GRCm39) |
T424A |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Pramel28 |
C |
A |
4: 143,691,770 (GRCm39) |
A318S |
probably benign |
Het |
| Psma8 |
T |
A |
18: 14,890,404 (GRCm39) |
D181E |
probably benign |
Het |
| Rhpn2 |
C |
A |
7: 35,053,446 (GRCm39) |
|
probably benign |
Het |
| Serpinb6e |
G |
T |
13: 34,022,967 (GRCm39) |
H139N |
possibly damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,533,642 (GRCm39) |
I394F |
probably damaging |
Het |
| Spmip5 |
T |
C |
19: 58,776,153 (GRCm39) |
E100G |
probably damaging |
Het |
| Stxbp5l |
ATTTT |
ATTTTT |
16: 37,036,414 (GRCm39) |
|
probably null |
Het |
| Taok3 |
T |
C |
5: 117,379,227 (GRCm39) |
S421P |
probably benign |
Het |
| Tas2r143 |
T |
G |
6: 42,377,828 (GRCm39) |
D219E |
probably damaging |
Het |
| Tcaf1 |
G |
A |
6: 42,663,707 (GRCm39) |
R58C |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,383 (GRCm39) |
Y2401* |
probably null |
Het |
| Tut1 |
T |
C |
19: 8,937,116 (GRCm39) |
V200A |
possibly damaging |
Het |
| Unc5c |
T |
A |
3: 141,509,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,473 (GRCm39) |
I158L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,134 (GRCm39) |
H19L |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,475 (GRCm39) |
M795T |
probably benign |
Het |
| Zc3h12a |
C |
A |
4: 125,014,743 (GRCm39) |
R247L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
|
| Other mutations in Fancc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Fancc
|
APN |
13 |
63,548,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Fancc
|
APN |
13 |
63,488,270 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01404:Fancc
|
APN |
13 |
63,509,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02592:Fancc
|
APN |
13 |
63,508,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02625:Fancc
|
APN |
13 |
63,545,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
canneloni
|
UTSW |
13 |
63,479,637 (GRCm39) |
intron |
probably benign |
|
|
macaroni
|
UTSW |
13 |
63,469,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0362:Fancc
|
UTSW |
13 |
63,545,970 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0554:Fancc
|
UTSW |
13 |
63,465,283 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0626:Fancc
|
UTSW |
13 |
63,465,205 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0627:Fancc
|
UTSW |
13 |
63,465,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0726:Fancc
|
UTSW |
13 |
63,471,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0734:Fancc
|
UTSW |
13 |
63,479,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Fancc
|
UTSW |
13 |
63,509,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Fancc
|
UTSW |
13 |
63,488,246 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1922:Fancc
|
UTSW |
13 |
63,478,381 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4585:Fancc
|
UTSW |
13 |
63,495,378 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4586:Fancc
|
UTSW |
13 |
63,495,378 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4608:Fancc
|
UTSW |
13 |
63,479,637 (GRCm39) |
intron |
probably benign |
|
|
R5159:Fancc
|
UTSW |
13 |
63,469,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5401:Fancc
|
UTSW |
13 |
63,550,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Fancc
|
UTSW |
13 |
63,465,201 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5699:Fancc
|
UTSW |
13 |
63,478,446 (GRCm39) |
splice site |
probably null |
|
|
R6200:Fancc
|
UTSW |
13 |
63,508,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Fancc
|
UTSW |
13 |
63,488,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7562:Fancc
|
UTSW |
13 |
63,550,867 (GRCm39) |
splice site |
probably null |
|
|
R7615:Fancc
|
UTSW |
13 |
63,465,372 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7805:Fancc
|
UTSW |
13 |
63,508,056 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7864:Fancc
|
UTSW |
13 |
63,548,073 (GRCm39) |
nonsense |
probably null |
|
|
R8080:Fancc
|
UTSW |
13 |
63,550,837 (GRCm39) |
missense |
|
|
|
R8966:Fancc
|
UTSW |
13 |
63,495,285 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9464:Fancc
|
UTSW |
13 |
63,550,769 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCATTGGTCTGTAACGCAG -3'
(R):5'- GAGTTTCTTAACCTAGAGCTCTCC -3'
Sequencing Primer
(F):5'- TGTAACGCAGAGAAGCACAG -3'
(R):5'- GAGCTCTCCTCTAATCTCTTCCTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation