Incidental Mutation 'IGL00815:Fam3c'
ID |
10656 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam3c
|
Ensembl Gene |
ENSMUSG00000029672 |
Gene Name |
FAM3 metabolism regulating signaling molecule C |
Synonyms |
Ilei, Fam3c, D6Wsu176e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.233)
|
Stock # |
IGL00815
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
22306519-22356080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 22318947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 151
(D151E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081288]
[ENSMUST00000163371]
[ENSMUST00000163963]
[ENSMUST00000165576]
[ENSMUST00000168965]
|
AlphaFold |
Q91VU0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081288
AA Change: D121E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080040 Gene: ENSMUSG00000029672 AA Change: D121E
Domain | Start | End | E-Value | Type |
PDB:2YOP|C
|
18 |
194 |
9e-45 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163371
|
SMART Domains |
Protein: ENSMUSP00000128855 Gene: ENSMUSG00000029672
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163963
AA Change: D171E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127559 Gene: ENSMUSG00000029672 AA Change: D171E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:ILEI
|
122 |
214 |
1.9e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164669
|
SMART Domains |
Protein: ENSMUSP00000132380 Gene: ENSMUSG00000029672
Domain | Start | End | E-Value | Type |
PDB:2YOP|C
|
1 |
152 |
2e-38 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165576
AA Change: D151E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127709 Gene: ENSMUSG00000029672 AA Change: D151E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PDB:2YOP|C
|
48 |
224 |
4e-44 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168965
|
SMART Domains |
Protein: ENSMUSP00000128135 Gene: ENSMUSG00000029672
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PDB:2YOP|C
|
48 |
110 |
6e-10 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out or gene trap allele exhibit normal skeletal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
Slc30a1 |
A |
G |
1: 191,641,191 (GRCm39) |
N279S |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
Other mutations in Fam3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01958:Fam3c
|
APN |
6 |
22,318,954 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02017:Fam3c
|
APN |
6 |
22,343,276 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
PIT4812001:Fam3c
|
UTSW |
6 |
22,321,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1829:Fam3c
|
UTSW |
6 |
22,309,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R2024:Fam3c
|
UTSW |
6 |
22,329,592 (GRCm39) |
missense |
probably benign |
0.33 |
R2884:Fam3c
|
UTSW |
6 |
22,329,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R5481:Fam3c
|
UTSW |
6 |
22,321,357 (GRCm39) |
missense |
probably benign |
0.30 |
R5662:Fam3c
|
UTSW |
6 |
22,355,061 (GRCm39) |
intron |
probably benign |
|
R5911:Fam3c
|
UTSW |
6 |
22,339,299 (GRCm39) |
missense |
probably benign |
0.00 |
R5911:Fam3c
|
UTSW |
6 |
22,328,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Fam3c
|
UTSW |
6 |
22,329,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R6687:Fam3c
|
UTSW |
6 |
22,328,669 (GRCm39) |
missense |
probably benign |
0.03 |
R6982:Fam3c
|
UTSW |
6 |
22,322,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Fam3c
|
UTSW |
6 |
22,326,404 (GRCm39) |
intron |
probably benign |
|
R7777:Fam3c
|
UTSW |
6 |
22,328,573 (GRCm39) |
missense |
probably benign |
0.19 |
R7994:Fam3c
|
UTSW |
6 |
22,308,459 (GRCm39) |
missense |
probably damaging |
0.98 |
R8082:Fam3c
|
UTSW |
6 |
22,343,303 (GRCm39) |
missense |
unknown |
|
R8254:Fam3c
|
UTSW |
6 |
22,328,675 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9477:Fam3c
|
UTSW |
6 |
22,308,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |