Incidental Mutation 'R8447:Fance'
ID |
654577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fance
|
Ensembl Gene |
ENSMUSG00000007570 |
Gene Name |
Fanconi anemia, complementation group E |
Synonyms |
2810451D06Rik |
MMRRC Submission |
067902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R8447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
28532504-28545548 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28545155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 127
(L127Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114386
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042334]
[ENSMUST00000088007]
[ENSMUST00000114801]
[ENSMUST00000114803]
[ENSMUST00000114804]
[ENSMUST00000123248]
[ENSMUST00000146104]
[ENSMUST00000129935]
[ENSMUST00000156505]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042334
|
SMART Domains |
Protein: ENSMUSP00000048469 Gene: ENSMUSG00000037805
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L1
|
12 |
213 |
3.5e-49 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000088007
|
SMART Domains |
Protein: ENSMUSP00000085322 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
1 |
212 |
5.9e-93 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000114801
|
SMART Domains |
Protein: ENSMUSP00000110449 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
7 |
98 |
1.8e-32 |
PFAM |
Pfam:FA_FANCE
|
93 |
125 |
7.6e-10 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000114803
|
SMART Domains |
Protein: ENSMUSP00000110451 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
7 |
167 |
1.5e-68 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000114804
|
SMART Domains |
Protein: ENSMUSP00000110452 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
1 |
140 |
3.7e-56 |
PFAM |
Pfam:FA_FANCE
|
137 |
170 |
6e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123248
|
SMART Domains |
Protein: ENSMUSP00000119663 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
1 |
154 |
3.1e-67 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146104
AA Change: L127Q
|
SMART Domains |
Protein: ENSMUSP00000114386 Gene: ENSMUSG00000007570 AA Change: L127Q
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
1 |
96 |
7.2e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129935
|
SMART Domains |
Protein: ENSMUSP00000114141 Gene: ENSMUSG00000037805
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L1
|
3 |
57 |
1.3e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156505
|
SMART Domains |
Protein: ENSMUSP00000118622 Gene: ENSMUSG00000007570
Domain | Start | End | E-Value | Type |
Pfam:FA_FANCE
|
1 |
67 |
4e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the complementation group E subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The FA complex is necessary for protection against DNA damage. This gene product is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Defects in the related human gene are a cause of Fanconi anemia, a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Translation of this protein is initiated at a non-AUG (CUG) start codon, which is inferred from the related human gene and the notion that this protein is functionally indispensable. Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
C |
5: 8,957,278 (GRCm39) |
T136P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,254,886 (GRCm39) |
L639Q |
possibly damaging |
Het |
Adam10 |
T |
A |
9: 70,655,400 (GRCm39) |
N289K |
probably damaging |
Het |
Akap12 |
A |
G |
10: 4,306,289 (GRCm39) |
E1138G |
probably benign |
Het |
Akr1e1 |
C |
A |
13: 4,648,793 (GRCm39) |
L167F |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,766 (GRCm39) |
K506E |
possibly damaging |
Het |
Castor1 |
T |
C |
11: 4,170,165 (GRCm39) |
V81A |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,260,902 (GRCm39) |
R65S |
possibly damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Clec16a |
C |
A |
16: 10,559,487 (GRCm39) |
T920K |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,842 (GRCm39) |
E351K |
probably damaging |
Het |
Diablo |
T |
C |
5: 123,655,829 (GRCm39) |
E163G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,115,757 (GRCm39) |
L1547P |
probably damaging |
Het |
Dynll2 |
G |
T |
11: 87,874,719 (GRCm39) |
D37E |
probably benign |
Het |
Eml4 |
A |
T |
17: 83,755,656 (GRCm39) |
Q408L |
probably damaging |
Het |
F2rl3 |
T |
C |
8: 73,489,963 (GRCm39) |
*397R |
probably null |
Het |
Fat4 |
T |
C |
3: 39,033,824 (GRCm39) |
V2492A |
possibly damaging |
Het |
Ggta1 |
C |
T |
2: 35,292,573 (GRCm39) |
D245N |
probably damaging |
Het |
Gli1 |
T |
C |
10: 127,166,106 (GRCm39) |
N1049S |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,148,215 (GRCm39) |
V354A |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,666,729 (GRCm39) |
I573F |
probably damaging |
Het |
Kdm3a |
A |
G |
6: 71,588,881 (GRCm39) |
V376A |
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,481,121 (GRCm39) |
V69A |
probably damaging |
Het |
Lcmt1 |
T |
A |
7: 123,020,825 (GRCm39) |
L250Q |
probably damaging |
Het |
Ldhb |
A |
T |
6: 142,444,356 (GRCm39) |
V99D |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,671,688 (GRCm39) |
V904A |
probably benign |
Het |
Lipe |
G |
T |
7: 25,080,017 (GRCm39) |
N710K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,060,240 (GRCm39) |
D230Y |
probably damaging |
Het |
Mpv17l |
T |
A |
16: 13,758,864 (GRCm39) |
I96K |
probably benign |
Het |
Obox1 |
A |
T |
7: 15,289,541 (GRCm39) |
Q110L |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,008 (GRCm39) |
V84A |
probably benign |
Het |
Or4f4b |
T |
A |
2: 111,314,101 (GRCm39) |
Y137N |
probably damaging |
Het |
Or4k37 |
T |
A |
2: 111,159,307 (GRCm39) |
I181N |
possibly damaging |
Het |
Or5t16 |
T |
A |
2: 86,818,885 (GRCm39) |
I212F |
probably benign |
Het |
Or6c76 |
T |
G |
10: 129,612,371 (GRCm39) |
M211R |
possibly damaging |
Het |
Or9s14 |
C |
A |
1: 92,535,494 (GRCm39) |
|
probably benign |
Het |
Pah |
T |
C |
10: 87,417,827 (GRCm39) |
|
probably null |
Het |
Pate1 |
A |
T |
9: 35,597,631 (GRCm39) |
N40K |
probably benign |
Het |
Pclo |
C |
A |
5: 14,731,423 (GRCm39) |
D182E |
|
Het |
Prl7a2 |
A |
T |
13: 27,849,941 (GRCm39) |
S44T |
possibly damaging |
Het |
Pwp2 |
T |
A |
10: 78,007,873 (GRCm39) |
D894V |
probably benign |
Het |
Ripor2 |
T |
A |
13: 24,907,771 (GRCm39) |
L1014Q |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,740,188 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
A |
G |
2: 32,642,671 (GRCm39) |
T706A |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,006,309 (GRCm39) |
F445S |
possibly damaging |
Het |
Spata20 |
C |
A |
11: 94,373,080 (GRCm39) |
L515F |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,437 (GRCm39) |
S1338F |
possibly damaging |
Het |
Tm9sf2 |
C |
A |
14: 122,377,180 (GRCm39) |
P236Q |
probably damaging |
Het |
Tmem135 |
T |
C |
7: 88,803,240 (GRCm39) |
Y311C |
probably damaging |
Het |
Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,688,023 (GRCm39) |
C1190F |
possibly damaging |
Het |
Tmem94 |
G |
A |
11: 115,688,696 (GRCm39) |
R1301H |
probably benign |
Het |
Zp3 |
G |
A |
5: 136,013,244 (GRCm39) |
G192E |
probably damaging |
Het |
|
Other mutations in Fance |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01655:Fance
|
APN |
17 |
28,541,753 (GRCm39) |
intron |
probably benign |
|
R2068:Fance
|
UTSW |
17 |
28,539,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2513:Fance
|
UTSW |
17 |
28,537,068 (GRCm39) |
missense |
probably benign |
0.00 |
R4483:Fance
|
UTSW |
17 |
28,534,781 (GRCm39) |
unclassified |
probably benign |
|
R4579:Fance
|
UTSW |
17 |
28,536,125 (GRCm39) |
splice site |
probably null |
|
R4664:Fance
|
UTSW |
17 |
28,534,636 (GRCm39) |
unclassified |
probably benign |
|
R4719:Fance
|
UTSW |
17 |
28,537,293 (GRCm39) |
splice site |
probably benign |
|
R5225:Fance
|
UTSW |
17 |
28,534,589 (GRCm39) |
unclassified |
probably benign |
|
R5404:Fance
|
UTSW |
17 |
28,537,034 (GRCm39) |
missense |
probably null |
1.00 |
R6165:Fance
|
UTSW |
17 |
28,545,068 (GRCm39) |
missense |
probably benign |
0.28 |
R6845:Fance
|
UTSW |
17 |
28,536,565 (GRCm39) |
missense |
probably damaging |
0.99 |
R7218:Fance
|
UTSW |
17 |
28,545,148 (GRCm39) |
missense |
probably benign |
0.00 |
R8033:Fance
|
UTSW |
17 |
28,532,659 (GRCm39) |
unclassified |
probably benign |
|
R9416:Fance
|
UTSW |
17 |
28,537,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R9485:Fance
|
UTSW |
17 |
28,536,479 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Fance
|
UTSW |
17 |
28,537,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGCCCATCTATCAGTGGGG -3'
(R):5'- AGTCAATATGGCCCCTGCAG -3'
Sequencing Primer
(F):5'- TGAGCTCCACTGCTGATAGAACTC -3'
(R):5'- CTGCAGAGCCTGGGGTG -3'
|
Posted On |
2020-10-20 |