Incidental Mutation 'R6448:Fam111a'
| ID |
519271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam111a
|
| Ensembl Gene |
ENSMUSG00000024691 |
| Gene Name |
family with sequence similarity 111, member A |
| Synonyms |
4632417K18Rik |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6448 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12550874-12567133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 12565701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 483
(H483Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025595]
[ENSMUST00000144662]
[ENSMUST00000151307]
|
| AlphaFold |
Q9D2L9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025595
AA Change: H527Q
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: H527Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
311 |
320 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
353 |
580 |
2.7e-7 |
PFAM |
|
Pfam:Trypsin_2
|
368 |
557 |
6.4e-15 |
PFAM |
|
Pfam:Peptidase_S7
|
491 |
574 |
6.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144662
AA Change: H527Q
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: H527Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
311 |
320 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
353 |
580 |
2.7e-7 |
PFAM |
|
Pfam:Trypsin_2
|
355 |
557 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151307
AA Change: H483Q
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: H483Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
267 |
276 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
309 |
536 |
6.6e-7 |
PFAM |
|
Pfam:Trypsin_2
|
324 |
513 |
5.6e-15 |
PFAM |
|
Pfam:Peptidase_S7
|
447 |
530 |
8.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224046
|
| Meta Mutation Damage Score |
0.1090 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
probably damaging |
Het |
|
| Other mutations in Fam111a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02565:Fam111a
|
APN |
19 |
12,564,318 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02721:Fam111a
|
APN |
19 |
12,564,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02885:Fam111a
|
APN |
19 |
12,561,488 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0121:Fam111a
|
UTSW |
19 |
12,561,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Fam111a
|
UTSW |
19 |
12,565,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Fam111a
|
UTSW |
19 |
12,564,682 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1583:Fam111a
|
UTSW |
19 |
12,565,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1837:Fam111a
|
UTSW |
19 |
12,564,816 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2945:Fam111a
|
UTSW |
19 |
12,565,230 (GRCm39) |
nonsense |
probably null |
|
|
R3732:Fam111a
|
UTSW |
19 |
12,564,914 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4772:Fam111a
|
UTSW |
19 |
12,565,057 (GRCm39) |
missense |
probably benign |
|
|
R4773:Fam111a
|
UTSW |
19 |
12,565,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4894:Fam111a
|
UTSW |
19 |
12,565,913 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6177:Fam111a
|
UTSW |
19 |
12,564,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Fam111a
|
UTSW |
19 |
12,565,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6330:Fam111a
|
UTSW |
19 |
12,564,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6390:Fam111a
|
UTSW |
19 |
12,565,524 (GRCm39) |
nonsense |
probably null |
|
|
R6813:Fam111a
|
UTSW |
19 |
12,564,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7620:Fam111a
|
UTSW |
19 |
12,565,301 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8291:Fam111a
|
UTSW |
19 |
12,564,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0010:Fam111a
|
UTSW |
19 |
12,565,592 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCATTGGCCATCCTGAGGG -3'
(R):5'- GCTCAGCATTTCTACATTCTGAAC -3'
Sequencing Primer
(F):5'- TTGGCCATCCTGAGGGAGAAAAG -3'
(R):5'- GCTTCATATGATCATCAATGGATTCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation