Incidental Mutation 'R2884:Fam3c'
| ID |
260958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam3c
|
| Ensembl Gene |
ENSMUSG00000029672 |
| Gene Name |
FAM3 metabolism regulating signaling molecule C |
| Synonyms |
Ilei, Fam3c, D6Wsu176e |
| MMRRC Submission |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
22306519-22356080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22329581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 49
(R49C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081288]
[ENSMUST00000163371]
[ENSMUST00000163963]
[ENSMUST00000165576]
[ENSMUST00000168965]
|
| AlphaFold |
Q91VU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081288
AA Change: R19C
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: R19C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YOP|C
|
18 |
194 |
9e-45 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163371
AA Change: R49C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672
AA Change: R49C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163963
AA Change: R69C
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: R69C
| 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 |
possibly damaging
Transcript: ENSMUST00000165576
AA Change: R49C
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: R49C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
48 |
224 |
4e-44 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168965
AA Change: R49C
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128135
Gene: ENSMUSG00000029672
AA Change: R49C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
48 |
110 |
6e-10 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Ecd |
C |
T |
14: 20,370,841 (GRCm39) |
G626D |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGAGCAAACGCCCAGTG -3'
(R):5'- TTCTCCAGGATTTCAGCACAC -3'
Sequencing Primer
(F):5'- CCAGTGGGAATGAAGAGCCTATGAC -3'
(R):5'- GGATTTCAGCACACACTTGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation