Incidental Mutation 'R8254:Fam3c'
| ID |
640644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam3c
|
| Ensembl Gene |
ENSMUSG00000029672 |
| Gene Name |
FAM3 metabolism regulating signaling molecule C |
| Synonyms |
Ilei, Fam3c, D6Wsu176e |
| MMRRC Submission |
067680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R8254 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
22306519-22356080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22328675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 71
(T71S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081288]
[ENSMUST00000163371]
[ENSMUST00000163963]
[ENSMUST00000165576]
[ENSMUST00000168965]
|
| AlphaFold |
Q91VU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081288
AA Change: T21S
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672
AA Change: T21S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YOP|C
|
18 |
194 |
9e-45 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163371
AA Change: T51S
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672
AA Change: T51S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163963
AA Change: T71S
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672
AA Change: T71S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:ILEI
|
122 |
214 |
1.9e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165576
AA Change: T51S
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672
AA Change: T51S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
PDB:2YOP|C
|
48 |
224 |
4e-44 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168965
AA Change: T51S
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128135
Gene: ENSMUSG00000029672
AA Change: T51S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
| Arhgef2 |
T |
C |
3: 88,549,910 (GRCm39) |
L655P |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,538,153 (GRCm39) |
S100P |
probably damaging |
Het |
| Calb1 |
A |
G |
4: 15,898,926 (GRCm39) |
T141A |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,938 (GRCm39) |
T447A |
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,148,907 (GRCm39) |
N279K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,842,259 (GRCm39) |
D4440G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,323,194 (GRCm39) |
E112D |
possibly damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,846,774 (GRCm39) |
V1119A |
possibly damaging |
Het |
| Fdxr |
C |
A |
11: 115,162,144 (GRCm39) |
G188W |
probably damaging |
Het |
| Fndc5 |
T |
C |
4: 129,032,514 (GRCm39) |
V39A |
possibly damaging |
Het |
| Gm14226 |
T |
C |
2: 154,866,646 (GRCm39) |
I201T |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,890,810 (GRCm39) |
Q950* |
probably null |
Het |
| Haspin |
A |
T |
11: 73,027,572 (GRCm39) |
Y506N |
probably benign |
Het |
| Itga2b |
C |
A |
11: 102,358,212 (GRCm39) |
R171L |
probably benign |
Het |
| Kctd2 |
C |
T |
11: 115,311,174 (GRCm39) |
P61S |
unknown |
Het |
| Kirrel2 |
A |
G |
7: 30,149,801 (GRCm39) |
|
probably null |
Het |
| Ldc1 |
C |
A |
4: 130,114,136 (GRCm39) |
A94S |
probably benign |
Het |
| Lmx1b |
A |
G |
2: 33,455,126 (GRCm39) |
F310S |
|
Het |
| Map4k4 |
A |
T |
1: 40,045,835 (GRCm39) |
I574F |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,088,287 (GRCm39) |
K1090R |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,842,326 (GRCm39) |
Y820C |
probably damaging |
Het |
| Or5ac25 |
T |
A |
16: 59,182,534 (GRCm39) |
I16L |
probably benign |
Het |
| Or5b96 |
T |
C |
19: 12,867,849 (GRCm39) |
T31A |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,242 (GRCm39) |
Y191H |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,705,089 (GRCm39) |
K475E |
probably benign |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psd4 |
A |
T |
2: 24,293,223 (GRCm39) |
D696V |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,697,129 (GRCm39) |
F556L |
unknown |
Het |
| Sema4f |
A |
T |
6: 82,894,382 (GRCm39) |
C528S |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,195,550 (GRCm39) |
S680P |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,225,073 (GRCm39) |
T79A |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,325,809 (GRCm39) |
N461S |
probably benign |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,440,264 (GRCm39) |
Q96L |
probably damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,227 (GRCm39) |
D274G |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,709,882 (GRCm39) |
|
probably benign |
Het |
| Vwce |
C |
A |
19: 10,627,938 (GRCm39) |
S466Y |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,236,560 (GRCm39) |
I1178T |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,714,558 (GRCm39) |
H145L |
probably benign |
Het |
| Zfp606 |
T |
C |
7: 12,226,788 (GRCm39) |
I303T |
possibly damaging |
Het |
| Zfp846 |
A |
G |
9: 20,504,587 (GRCm39) |
D149G |
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 |
|
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 |
|
|
R9477:Fam3c
|
UTSW |
6 |
22,308,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGTCTGTCACTCAATCC -3'
(R):5'- ATTAAAGAATGTGTGTCTCGCC -3'
Sequencing Primer
(F):5'- GGTCTGTCACTCAATCCACGAC -3'
(R):5'- ATGGATGTATGCTCACCACG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation