Incidental Mutation 'R2117:Fancm'
| ID |
231112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fancm
|
| Ensembl Gene |
ENSMUSG00000055884 |
| Gene Name |
Fanconi anemia, complementation group M |
| Synonyms |
D12Ertd364e, C730036B14Rik |
| MMRRC Submission |
040121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R2117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
65122377-65178832 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65123948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 202
(D202G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021332]
[ENSMUST00000058889]
[ENSMUST00000220730]
[ENSMUST00000221166]
[ENSMUST00000222540]
[ENSMUST00000221913]
|
| AlphaFold |
Q8BGE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021332
|
| SMART Domains |
Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KFV|A
|
1 |
73 |
2e-45 |
PDB |
|
low complexity region
|
91 |
100 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
121 |
221 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058889
AA Change: D202G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: D202G
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
75 |
275 |
5.6e-25 |
SMART |
|
Blast:DEXDc
|
295 |
323 |
9e-6 |
BLAST |
|
low complexity region
|
339 |
348 |
N/A |
INTRINSIC |
|
HELICc
|
475 |
566 |
5.64e-21 |
SMART |
|
Pfam:FANCM-MHF_bd
|
657 |
770 |
8.5e-50 |
PFAM |
|
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1178 |
N/A |
INTRINSIC |
|
PDB:4DAY|C
|
1207 |
1238 |
1e-6 |
PDB |
|
low complexity region
|
1489 |
1506 |
N/A |
INTRINSIC |
|
low complexity region
|
1572 |
1586 |
N/A |
INTRINSIC |
|
low complexity region
|
1669 |
1682 |
N/A |
INTRINSIC |
|
ERCC4
|
1780 |
1863 |
2.07e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220730
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221710
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222540
AA Change: D202G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223519
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222467
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| 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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(39) : Targeted(4) Gene trapped(35)
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,640,656 (GRCm39) |
C3357S |
probably benign |
Het |
| Ago1 |
T |
A |
4: 126,357,650 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,781,129 (GRCm39) |
D562E |
possibly damaging |
Het |
| Akr1b7 |
G |
A |
6: 34,395,929 (GRCm39) |
A144T |
possibly damaging |
Het |
| Ankle1 |
A |
G |
8: 71,860,562 (GRCm39) |
T340A |
probably benign |
Het |
| Arf5 |
C |
T |
6: 28,424,783 (GRCm39) |
Q71* |
probably null |
Het |
| Arl15 |
C |
T |
13: 114,104,196 (GRCm39) |
S111F |
probably damaging |
Het |
| Asph |
G |
A |
4: 9,517,671 (GRCm39) |
Q468* |
probably null |
Het |
| Bcam |
G |
T |
7: 19,492,352 (GRCm39) |
A581E |
possibly damaging |
Het |
| Blvra |
G |
T |
2: 126,927,989 (GRCm39) |
E80* |
probably null |
Het |
| Ccr6 |
T |
C |
17: 8,474,914 (GRCm39) |
F40L |
possibly damaging |
Het |
| Cfap161 |
A |
T |
7: 83,425,184 (GRCm39) |
N302K |
possibly damaging |
Het |
| Ckmt2 |
T |
A |
13: 92,003,964 (GRCm39) |
I345F |
probably benign |
Het |
| Cpsf6 |
A |
G |
10: 117,202,025 (GRCm39) |
|
probably benign |
Het |
| Ctnna1 |
A |
G |
18: 35,285,678 (GRCm39) |
N8S |
possibly damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,275,954 (GRCm39) |
L209P |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,465,096 (GRCm39) |
V628A |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,571 (GRCm39) |
Q327* |
probably null |
Het |
| Defb38 |
A |
T |
8: 19,073,483 (GRCm39) |
Y63* |
probably null |
Het |
| Dlg5 |
A |
T |
14: 24,227,826 (GRCm39) |
L365* |
probably null |
Het |
| Dnai7 |
C |
T |
6: 145,150,967 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
C |
A |
10: 77,899,130 (GRCm39) |
L110I |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,228,907 (GRCm39) |
L108F |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,324,760 (GRCm39) |
N351K |
possibly damaging |
Het |
| Fam83h |
C |
A |
15: 75,876,582 (GRCm39) |
E252* |
probably null |
Het |
| Fat1 |
T |
A |
8: 45,490,500 (GRCm39) |
V3804E |
probably benign |
Het |
| Fbxw28 |
T |
C |
9: 109,159,985 (GRCm39) |
T190A |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,881,038 (GRCm39) |
T843A |
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,391,450 (GRCm39) |
H461L |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,736,884 (GRCm39) |
M1276L |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,101,827 (GRCm39) |
V978A |
possibly damaging |
Het |
| Gm7247 |
A |
T |
14: 51,602,792 (GRCm39) |
I43F |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,322,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr4 |
T |
C |
7: 18,957,070 (GRCm39) |
S331P |
probably damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,455 (GRCm39) |
N483Y |
probably damaging |
Het |
| Ift74 |
A |
G |
4: 94,515,496 (GRCm39) |
T138A |
probably benign |
Het |
| Ints14 |
T |
G |
9: 64,887,077 (GRCm39) |
L336R |
probably damaging |
Het |
| Irak1 |
G |
T |
X: 73,066,218 (GRCm39) |
P197Q |
possibly damaging |
Het |
| Kif4 |
A |
G |
X: 99,709,323 (GRCm39) |
S315G |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,801,990 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
G |
1: 193,016,489 (GRCm39) |
R657G |
probably benign |
Het |
| Ldc1 |
C |
A |
4: 130,109,156 (GRCm39) |
V295L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,313,729 (GRCm39) |
V2334G |
probably benign |
Het |
| Lrwd1 |
T |
A |
5: 136,159,332 (GRCm39) |
Y431F |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,650,781 (GRCm39) |
H261L |
probably benign |
Het |
| Meis1 |
G |
T |
11: 18,831,679 (GRCm39) |
P453Q |
probably damaging |
Het |
| Mettl16 |
G |
T |
11: 74,693,755 (GRCm39) |
M255I |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,167,380 (GRCm39) |
N435S |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,920,880 (GRCm39) |
I27T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,328 (GRCm39) |
I771V |
probably benign |
Het |
| Nisch |
A |
T |
14: 30,899,242 (GRCm39) |
|
probably benign |
Het |
| Npc1 |
G |
A |
18: 12,329,613 (GRCm39) |
P990L |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 91,011,705 (GRCm39) |
I308K |
probably damaging |
Het |
| Or13l2 |
C |
A |
3: 97,317,765 (GRCm39) |
C244F |
probably damaging |
Het |
| Or1ad6 |
A |
T |
11: 50,860,147 (GRCm39) |
I101F |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,783 (GRCm39) |
L245P |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,694,779 (GRCm39) |
D823G |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
| Pals1 |
T |
C |
12: 78,856,696 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pank1 |
T |
A |
19: 34,818,486 (GRCm39) |
I18F |
probably damaging |
Het |
| Pgap3 |
A |
G |
11: 98,281,933 (GRCm39) |
L126P |
probably damaging |
Het |
| Pgap6 |
C |
T |
17: 26,336,858 (GRCm39) |
L259F |
possibly damaging |
Het |
| Phka1 |
C |
T |
X: 101,653,807 (GRCm39) |
R290H |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,631,042 (GRCm39) |
E489K |
probably damaging |
Het |
| Prdm16 |
T |
A |
4: 154,432,382 (GRCm39) |
S296C |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,256,937 (GRCm39) |
N1216K |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,953,930 (GRCm39) |
T124A |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 130,381,655 (GRCm39) |
R372L |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rap2b |
G |
T |
3: 61,272,512 (GRCm39) |
G12V |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,677,799 (GRCm39) |
|
probably null |
Het |
| Rassf4 |
A |
G |
6: 116,622,088 (GRCm39) |
F168S |
possibly damaging |
Het |
| Rtf1 |
T |
A |
2: 119,535,999 (GRCm39) |
H184Q |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,451,220 (GRCm39) |
K4422R |
probably benign |
Het |
| Sec11c |
A |
T |
18: 65,933,720 (GRCm39) |
T9S |
probably benign |
Het |
| Sema3d |
C |
T |
5: 12,613,240 (GRCm39) |
T439I |
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,351 (GRCm39) |
N243S |
probably benign |
Het |
| Setd2 |
TTGGGA |
T |
9: 110,433,212 (GRCm39) |
|
probably null |
Het |
| Setx |
A |
G |
2: 29,020,313 (GRCm39) |
D100G |
probably benign |
Het |
| Slc22a7 |
C |
A |
17: 46,744,898 (GRCm39) |
V383L |
possibly damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,480,417 (GRCm39) |
C56R |
probably damaging |
Het |
| Stk38l |
T |
A |
6: 146,670,344 (GRCm39) |
L229I |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,359,359 (GRCm39) |
S112P |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,573,520 (GRCm39) |
Y332H |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,965,857 (GRCm39) |
E415G |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,915,681 (GRCm39) |
L1951P |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,102,536 (GRCm39) |
N609S |
probably damaging |
Het |
| Tmem120a |
A |
T |
5: 135,764,977 (GRCm39) |
S266T |
possibly damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,615 (GRCm39) |
E92G |
probably damaging |
Het |
| Tnfrsf18 |
T |
A |
4: 156,112,973 (GRCm39) |
V196E |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,599,637 (GRCm39) |
L474H |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,807,316 (GRCm39) |
V1020A |
probably damaging |
Het |
| Usp20 |
T |
A |
2: 30,906,317 (GRCm39) |
C562S |
probably damaging |
Het |
| Usp47 |
T |
A |
7: 111,666,443 (GRCm39) |
|
probably null |
Het |
| Vgll1 |
A |
C |
X: 56,137,790 (GRCm39) |
K53T |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,335 (GRCm39) |
N285D |
possibly damaging |
Het |
| Zfp445 |
T |
A |
9: 122,682,502 (GRCm39) |
K480* |
probably null |
Het |
| Zfp786 |
A |
G |
6: 47,803,931 (GRCm39) |
V37A |
probably damaging |
Het |
| Zfp821 |
A |
G |
8: 110,447,851 (GRCm39) |
E64G |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,962 (GRCm39) |
D329V |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,704,488 (GRCm39) |
S484G |
probably damaging |
Het |
|
| Other mutations in Fancm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Fancm
|
APN |
12 |
65,122,510 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL00489:Fancm
|
APN |
12 |
65,152,967 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00529:Fancm
|
APN |
12 |
65,177,191 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00898:Fancm
|
APN |
12 |
65,152,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01805:Fancm
|
APN |
12 |
65,160,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01986:Fancm
|
APN |
12 |
65,173,429 (GRCm39) |
nonsense |
probably null |
|
|
IGL02026:Fancm
|
APN |
12 |
65,152,508 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02069:Fancm
|
APN |
12 |
65,122,685 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02103:Fancm
|
APN |
12 |
65,142,558 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02133:Fancm
|
APN |
12 |
65,153,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02400:Fancm
|
APN |
12 |
65,160,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Fancm
|
APN |
12 |
65,123,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02479:Fancm
|
APN |
12 |
65,153,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02563:Fancm
|
APN |
12 |
65,139,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02606:Fancm
|
APN |
12 |
65,122,913 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02731:Fancm
|
APN |
12 |
65,135,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02809:Fancm
|
APN |
12 |
65,168,441 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02953:Fancm
|
APN |
12 |
65,168,740 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03066:Fancm
|
APN |
12 |
65,171,888 (GRCm39) |
nonsense |
probably null |
|
|
IGL03073:Fancm
|
APN |
12 |
65,148,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Fancypants
|
UTSW |
12 |
65,153,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Mylord
|
UTSW |
12 |
65,163,197 (GRCm39) |
nonsense |
probably null |
|
|
R0041_fancm_712
|
UTSW |
12 |
65,153,217 (GRCm39) |
nonsense |
probably null |
|
|
R7172_Fancm_370
|
UTSW |
12 |
65,152,828 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
BB005:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
BB015:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
PIT4131001:Fancm
|
UTSW |
12 |
65,152,196 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0041:Fancm
|
UTSW |
12 |
65,153,217 (GRCm39) |
nonsense |
probably null |
|
|
R0041:Fancm
|
UTSW |
12 |
65,153,217 (GRCm39) |
nonsense |
probably null |
|
|
R0125:Fancm
|
UTSW |
12 |
65,168,730 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0201:Fancm
|
UTSW |
12 |
65,148,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Fancm
|
UTSW |
12 |
65,122,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Fancm
|
UTSW |
12 |
65,152,835 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0557:Fancm
|
UTSW |
12 |
65,165,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0617:Fancm
|
UTSW |
12 |
65,144,091 (GRCm39) |
nonsense |
probably null |
|
|
R1201:Fancm
|
UTSW |
12 |
65,153,542 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1353:Fancm
|
UTSW |
12 |
65,134,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Fancm
|
UTSW |
12 |
65,165,125 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1468:Fancm
|
UTSW |
12 |
65,146,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Fancm
|
UTSW |
12 |
65,146,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Fancm
|
UTSW |
12 |
65,168,478 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1530:Fancm
|
UTSW |
12 |
65,139,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1559:Fancm
|
UTSW |
12 |
65,140,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1632:Fancm
|
UTSW |
12 |
65,177,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Fancm
|
UTSW |
12 |
65,152,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1919:Fancm
|
UTSW |
12 |
65,152,294 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1969:Fancm
|
UTSW |
12 |
65,148,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1971:Fancm
|
UTSW |
12 |
65,148,466 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2510:Fancm
|
UTSW |
12 |
65,160,544 (GRCm39) |
splice site |
probably benign |
|
|
R2909:Fancm
|
UTSW |
12 |
65,171,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Fancm
|
UTSW |
12 |
65,163,195 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3405:Fancm
|
UTSW |
12 |
65,122,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4133:Fancm
|
UTSW |
12 |
65,167,304 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4308:Fancm
|
UTSW |
12 |
65,173,305 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4588:Fancm
|
UTSW |
12 |
65,165,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Fancm
|
UTSW |
12 |
65,171,718 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4653:Fancm
|
UTSW |
12 |
65,129,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Fancm
|
UTSW |
12 |
65,168,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4719:Fancm
|
UTSW |
12 |
65,168,480 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4885:Fancm
|
UTSW |
12 |
65,149,417 (GRCm39) |
nonsense |
probably null |
|
|
R4896:Fancm
|
UTSW |
12 |
65,122,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Fancm
|
UTSW |
12 |
65,141,645 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4921:Fancm
|
UTSW |
12 |
65,123,915 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4922:Fancm
|
UTSW |
12 |
65,153,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4948:Fancm
|
UTSW |
12 |
65,137,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Fancm
|
UTSW |
12 |
65,152,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5577:Fancm
|
UTSW |
12 |
65,177,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5631:Fancm
|
UTSW |
12 |
65,160,617 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5741:Fancm
|
UTSW |
12 |
65,148,389 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6137:Fancm
|
UTSW |
12 |
65,177,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Fancm
|
UTSW |
12 |
65,141,669 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6242:Fancm
|
UTSW |
12 |
65,163,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6242:Fancm
|
UTSW |
12 |
65,163,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6281:Fancm
|
UTSW |
12 |
65,135,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6325:Fancm
|
UTSW |
12 |
65,171,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Fancm
|
UTSW |
12 |
65,123,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Fancm
|
UTSW |
12 |
65,144,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6542:Fancm
|
UTSW |
12 |
65,144,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Fancm
|
UTSW |
12 |
65,152,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6878:Fancm
|
UTSW |
12 |
65,163,197 (GRCm39) |
nonsense |
probably null |
|
|
R7171:Fancm
|
UTSW |
12 |
65,148,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7172:Fancm
|
UTSW |
12 |
65,152,828 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7498:Fancm
|
UTSW |
12 |
65,146,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Fancm
|
UTSW |
12 |
65,153,021 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7610:Fancm
|
UTSW |
12 |
65,152,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Fancm
|
UTSW |
12 |
65,153,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7740:Fancm
|
UTSW |
12 |
65,173,321 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7867:Fancm
|
UTSW |
12 |
65,165,173 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7867:Fancm
|
UTSW |
12 |
65,163,240 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7882:Fancm
|
UTSW |
12 |
65,173,568 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7928:Fancm
|
UTSW |
12 |
65,152,898 (GRCm39) |
missense |
unknown |
|
|
R8230:Fancm
|
UTSW |
12 |
65,149,424 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8470:Fancm
|
UTSW |
12 |
65,171,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Fancm
|
UTSW |
12 |
65,173,469 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8695:Fancm
|
UTSW |
12 |
65,171,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Fancm
|
UTSW |
12 |
65,167,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Fancm
|
UTSW |
12 |
65,173,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Fancm
|
UTSW |
12 |
65,122,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Fancm
|
UTSW |
12 |
65,149,358 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9280:Fancm
|
UTSW |
12 |
65,153,612 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9487:Fancm
|
UTSW |
12 |
65,153,388 (GRCm39) |
nonsense |
probably null |
|
|
R9562:Fancm
|
UTSW |
12 |
65,168,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Fancm
|
UTSW |
12 |
65,168,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Fancm
|
UTSW |
12 |
65,152,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9664:Fancm
|
UTSW |
12 |
65,137,758 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Fancm
|
UTSW |
12 |
65,141,700 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGACGGTCTGAAGTTTCTG -3'
(R):5'- AGATTTCCCAGCACCCTCTG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TGTTCTGACAGAGTGAATGAAAGGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation