Incidental Mutation 'R1748:Fanci'
| ID |
194118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fanci
|
| Ensembl Gene |
ENSMUSG00000039187 |
| Gene Name |
Fanconi anemia, complementation group I |
| Synonyms |
|
| MMRRC Submission |
039780-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.651)
|
| Stock # |
R1748 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79042056-79100013 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79080236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 598
(L598P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036865]
[ENSMUST00000132091]
[ENSMUST00000137667]
[ENSMUST00000205817]
|
| AlphaFold |
Q8K368 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036865
AA Change: L626P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
AA Change: L626P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCI_S1-cap
|
1 |
53 |
7.5e-27 |
PFAM |
|
Pfam:FANCI_S1
|
62 |
280 |
3.5e-78 |
PFAM |
|
Pfam:FANCI_HD1
|
284 |
370 |
1.6e-37 |
PFAM |
|
Pfam:FANCI_S2
|
378 |
540 |
2.4e-63 |
PFAM |
|
Pfam:FANCI_HD2
|
554 |
785 |
4.8e-87 |
PFAM |
|
Pfam:FANCI_S3
|
803 |
1028 |
1.7e-83 |
PFAM |
|
Pfam:FANCI_S4
|
1041 |
1295 |
1.3e-95 |
PFAM |
|
low complexity region
|
1299 |
1307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132091
|
| SMART Domains |
Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCI_S1-cap
|
1 |
53 |
1.6e-29 |
PFAM |
|
Pfam:FANCI_S1
|
60 |
281 |
3.2e-81 |
PFAM |
|
Pfam:FANCI_HD1
|
284 |
371 |
2.9e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137667
AA Change: L598P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117992
Gene: ENSMUSG00000039187
AA Change: L598P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCI_S1-cap
|
1 |
25 |
7.2e-11 |
PFAM |
|
Pfam:FANCI_S1
|
32 |
253 |
3.4e-80 |
PFAM |
|
Pfam:FANCI_HD1
|
256 |
343 |
7.3e-37 |
PFAM |
|
Pfam:FANCI_S2
|
349 |
513 |
8.5e-56 |
PFAM |
|
Pfam:FANCI_HD2
|
523 |
758 |
9.3e-99 |
PFAM |
|
Pfam:FANCI_S3
|
775 |
850 |
1.3e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205817
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,152,338 (GRCm39) |
Q1403K |
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,241,548 (GRCm39) |
M373I |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aire |
T |
C |
10: 77,879,314 (GRCm39) |
H15R |
probably damaging |
Het |
| Aldh3b2 |
T |
C |
19: 4,027,572 (GRCm39) |
F38L |
probably damaging |
Het |
| Alk |
A |
C |
17: 72,910,416 (GRCm39) |
C97G |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,931,602 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,210,529 (GRCm39) |
H506L |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,987,658 (GRCm39) |
R52L |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,058,780 (GRCm39) |
I145T |
possibly damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,703,134 (GRCm39) |
T1051A |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,362,315 (GRCm39) |
V424D |
possibly damaging |
Het |
| Capn3 |
T |
C |
2: 120,327,494 (GRCm39) |
V574A |
probably benign |
Het |
| Capzb |
C |
A |
4: 138,984,679 (GRCm39) |
D67E |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,089,062 (GRCm39) |
T202S |
probably benign |
Het |
| Ccser2 |
T |
C |
14: 36,618,270 (GRCm39) |
K123R |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,618,271 (GRCm39) |
K123* |
probably null |
Het |
| Ces2h |
T |
C |
8: 105,744,473 (GRCm39) |
I316T |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,255,523 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,580,279 (GRCm39) |
T1533A |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,838,213 (GRCm39) |
K1084* |
probably null |
Het |
| Ddx28 |
A |
G |
8: 106,737,314 (GRCm39) |
L248P |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,075,286 (GRCm39) |
E488G |
probably benign |
Het |
| Dld |
T |
C |
12: 31,384,745 (GRCm39) |
T305A |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,683,373 (GRCm39) |
F211L |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,117,532 (GRCm39) |
D934G |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,755,236 (GRCm39) |
T982I |
unknown |
Het |
| Erbb2 |
G |
T |
11: 98,326,161 (GRCm39) |
R979L |
probably benign |
Het |
| Espl1 |
G |
T |
15: 102,206,964 (GRCm39) |
V143L |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,147,473 (GRCm39) |
E3923V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,550 (GRCm39) |
K95* |
probably null |
Het |
| Gpr108 |
G |
T |
17: 57,543,217 (GRCm39) |
T484K |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,340,238 (GRCm39) |
N351I |
possibly damaging |
Het |
| Hepacam |
A |
T |
9: 37,295,189 (GRCm39) |
N308I |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,798,571 (GRCm39) |
|
probably null |
Het |
| Hltf |
T |
C |
3: 20,130,685 (GRCm39) |
I301T |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,226,514 (GRCm39) |
N2386K |
probably damaging |
Het |
| Ikbke |
G |
T |
1: 131,186,937 (GRCm39) |
T585K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,021,287 (GRCm39) |
T448A |
possibly damaging |
Het |
| Kl |
T |
C |
5: 150,904,450 (GRCm39) |
S401P |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,941,615 (GRCm39) |
V684A |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,469,824 (GRCm39) |
F45Y |
probably damaging |
Het |
| Lgalsl |
G |
A |
11: 20,776,491 (GRCm39) |
R134C |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,875 (GRCm39) |
V349A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,618,718 (GRCm39) |
N119Y |
possibly damaging |
Het |
| Lrrc73 |
T |
A |
17: 46,566,621 (GRCm39) |
I157N |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,334,766 (GRCm39) |
Y293H |
probably damaging |
Het |
| Mybphl |
A |
T |
3: 108,282,400 (GRCm39) |
|
probably null |
Het |
| Naa12 |
T |
C |
18: 80,255,161 (GRCm39) |
S152P |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,930 (GRCm39) |
M140T |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,585,997 (GRCm39) |
C112S |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,972,796 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pbx2 |
T |
C |
17: 34,812,951 (GRCm39) |
S76P |
possibly damaging |
Het |
| Plcl2 |
T |
A |
17: 50,913,826 (GRCm39) |
S278R |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,915 (GRCm39) |
L393* |
probably null |
Het |
| Prmt6 |
T |
C |
3: 110,157,683 (GRCm39) |
Q202R |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
A |
1: 87,759,662 (GRCm39) |
I300N |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,180 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
A |
G |
5: 92,608,695 (GRCm39) |
L177P |
probably damaging |
Het |
| Sh3pxd2b |
A |
T |
11: 32,372,203 (GRCm39) |
N457Y |
possibly damaging |
Het |
| Siae |
T |
A |
9: 37,542,902 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,119,150 (GRCm39) |
L375P |
probably damaging |
Het |
| Smg8 |
A |
G |
11: 86,976,594 (GRCm39) |
V329A |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,695 (GRCm39) |
Y241F |
probably damaging |
Het |
| Tm9sf3 |
T |
G |
19: 41,244,668 (GRCm39) |
S70R |
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,594 (GRCm39) |
S228N |
probably damaging |
Het |
| Tmem45a |
C |
A |
16: 56,642,701 (GRCm39) |
V157F |
possibly damaging |
Het |
| Tpbg |
G |
T |
9: 85,726,429 (GRCm39) |
V133L |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,186,209 (GRCm39) |
V667I |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,241 (GRCm39) |
F53S |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,250 (GRCm39) |
V287D |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,035 (GRCm39) |
D499V |
probably benign |
Het |
| Zpld2 |
C |
G |
4: 133,927,610 (GRCm39) |
C381S |
probably damaging |
Het |
| Zpld2 |
T |
A |
4: 133,929,430 (GRCm39) |
T292S |
possibly damaging |
Het |
|
| Other mutations in Fanci |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Fanci
|
APN |
7 |
79,062,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00718:Fanci
|
APN |
7 |
79,093,922 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00764:Fanci
|
APN |
7 |
79,045,660 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
|
IGL01669:Fanci
|
APN |
7 |
79,098,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02338:Fanci
|
APN |
7 |
79,083,279 (GRCm39) |
nonsense |
probably null |
|
|
IGL02428:Fanci
|
APN |
7 |
79,094,264 (GRCm39) |
intron |
probably benign |
|
|
IGL03029:Fanci
|
APN |
7 |
79,093,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB005:Fanci
|
UTSW |
7 |
79,094,459 (GRCm39) |
missense |
probably benign |
|
|
BB015:Fanci
|
UTSW |
7 |
79,094,459 (GRCm39) |
missense |
probably benign |
|
|
P0023:Fanci
|
UTSW |
7 |
79,052,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0047:Fanci
|
UTSW |
7 |
79,093,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Fanci
|
UTSW |
7 |
79,057,165 (GRCm39) |
splice site |
probably benign |
|
|
R0388:Fanci
|
UTSW |
7 |
79,089,378 (GRCm39) |
missense |
probably benign |
|
|
R0506:Fanci
|
UTSW |
7 |
79,081,926 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0570:Fanci
|
UTSW |
7 |
79,093,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Fanci
|
UTSW |
7 |
79,055,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0746:Fanci
|
UTSW |
7 |
79,089,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0981:Fanci
|
UTSW |
7 |
79,054,914 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1559:Fanci
|
UTSW |
7 |
79,082,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Fanci
|
UTSW |
7 |
79,054,936 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Fanci
|
UTSW |
7 |
79,088,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Fanci
|
UTSW |
7 |
79,045,743 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3508:Fanci
|
UTSW |
7 |
79,083,220 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3908:Fanci
|
UTSW |
7 |
79,083,257 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4036:Fanci
|
UTSW |
7 |
79,094,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4066:Fanci
|
UTSW |
7 |
79,062,505 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4633:Fanci
|
UTSW |
7 |
79,076,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Fanci
|
UTSW |
7 |
79,085,004 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4993:Fanci
|
UTSW |
7 |
79,085,126 (GRCm39) |
makesense |
probably null |
|
|
R5341:Fanci
|
UTSW |
7 |
79,055,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5806:Fanci
|
UTSW |
7 |
79,098,596 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5898:Fanci
|
UTSW |
7 |
79,083,069 (GRCm39) |
missense |
probably benign |
|
|
R5919:Fanci
|
UTSW |
7 |
79,094,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Fanci
|
UTSW |
7 |
79,093,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Fanci
|
UTSW |
7 |
79,075,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6436:Fanci
|
UTSW |
7 |
79,090,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6468:Fanci
|
UTSW |
7 |
79,067,687 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6508:Fanci
|
UTSW |
7 |
79,093,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6886:Fanci
|
UTSW |
7 |
79,070,090 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7554:Fanci
|
UTSW |
7 |
79,062,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7588:Fanci
|
UTSW |
7 |
79,084,017 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7644:Fanci
|
UTSW |
7 |
79,094,219 (GRCm39) |
nonsense |
probably null |
|
|
R7697:Fanci
|
UTSW |
7 |
79,056,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7732:Fanci
|
UTSW |
7 |
79,062,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7928:Fanci
|
UTSW |
7 |
79,094,459 (GRCm39) |
missense |
probably benign |
|
|
R8170:Fanci
|
UTSW |
7 |
79,083,305 (GRCm39) |
splice site |
probably null |
|
|
R8355:Fanci
|
UTSW |
7 |
79,085,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Fanci
|
UTSW |
7 |
79,083,289 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8429:Fanci
|
UTSW |
7 |
79,088,133 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8455:Fanci
|
UTSW |
7 |
79,085,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8720:Fanci
|
UTSW |
7 |
79,089,425 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8786:Fanci
|
UTSW |
7 |
79,052,298 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8946:Fanci
|
UTSW |
7 |
79,045,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8986:Fanci
|
UTSW |
7 |
79,095,472 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9213:Fanci
|
UTSW |
7 |
79,055,971 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9333:Fanci
|
UTSW |
7 |
79,067,594 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9485:Fanci
|
UTSW |
7 |
79,089,405 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9508:Fanci
|
UTSW |
7 |
79,083,033 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9624:Fanci
|
UTSW |
7 |
79,085,117 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9649:Fanci
|
UTSW |
7 |
79,076,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGGGCACAACCCTAACAG -3'
(R):5'- TCCTTCGGACTTAAGGAGCAGACTG -3'
Sequencing Primer
(F):5'- ccagatacagggcacagac -3'
(R):5'- CTTAAGGAGCAGACTGAGAACTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation