Incidental Mutation 'R6687:Fam3c'
ID |
527824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam3c
|
Ensembl Gene |
ENSMUSG00000029672 |
Gene Name |
FAM3 metabolism regulating signaling molecule C |
Synonyms |
Ilei, Fam3c, D6Wsu176e |
MMRRC Submission |
044805-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.288)
|
Stock # |
R6687 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
22306519-22356080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 22328669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 53
(P53A)
|
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
AA Change: P23A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000080040 Gene: ENSMUSG00000029672 AA Change: P23A
Domain | Start | End | E-Value | Type |
PDB:2YOP|C
|
18 |
194 |
9e-45 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163371
AA Change: P53A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000128855 Gene: ENSMUSG00000029672 AA Change: P53A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163963
AA Change: P73A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000127559 Gene: ENSMUSG00000029672 AA Change: P73A
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 benign
Transcript: ENSMUST00000165576
AA Change: P53A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000127709 Gene: ENSMUSG00000029672 AA Change: P53A
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
AA Change: P53A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000128135 Gene: ENSMUSG00000029672 AA Change: P53A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
PDB:2YOP|C
|
48 |
110 |
6e-10 |
PDB |
|
Meta Mutation Damage Score |
0.0703 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (33/33) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
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 |
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 |
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'- GGTCTGTCACTCAATCCACG -3'
(R):5'- ATTAAAGAATGTGTGTCTCGCC -3'
Sequencing Primer
(F):5'- ACGACCTTCGAGCTCTGAG -3'
(R):5'- ATGGATGTATGCTCACCACG -3'
|
Posted On |
2018-07-23 |