Incidental Mutation 'IGL02017:Fam3c'
| ID |
183789 |
| 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 # |
IGL02017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
22306519-22356080 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to G
at 22343276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081288]
[ENSMUST00000163371]
[ENSMUST00000163963]
[ENSMUST00000165576]
[ENSMUST00000168965]
|
| AlphaFold |
Q91VU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081288
|
| SMART Domains |
Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YOP|C
|
18 |
194 |
9e-45 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163371
AA Change: M1T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163963
AA Change: M21T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: M21T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:ILEI
|
122 |
214 |
1.9e-31 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165576
AA Change: M1T
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: M1T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
48 |
224 |
4e-44 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168965
AA Change: M1T
|
| SMART Domains |
Protein: ENSMUSP00000128135
Gene: ENSMUSG00000029672
AA Change: M1T
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
| Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
| Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
| Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
| Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
| Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
| Epn3 |
A |
G |
11: 94,385,852 (GRCm39) |
S190P |
probably benign |
Het |
| Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
| Lrrc14 |
G |
T |
15: 76,597,942 (GRCm39) |
R224L |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
| Map3k11 |
C |
T |
19: 5,747,651 (GRCm39) |
S603F |
possibly damaging |
Het |
| Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,743 (GRCm39) |
I238T |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
| Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
| Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
| Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
| Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
| Other mutations in Fam3c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Fam3c
|
APN |
6 |
22,318,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Fam3c
|
APN |
6 |
22,318,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation