Incidental Mutation 'R2296:Fam222a'
| ID |
245173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam222a
|
| Ensembl Gene |
ENSMUSG00000041930 |
| Gene Name |
family with sequence similarity 222, member A |
| Synonyms |
BC057022 |
| MMRRC Submission |
040295-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R2296 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114706312-114751281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 114749027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 74
(H74Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043650]
|
| AlphaFold |
Q6PGH4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043650
AA Change: H74Q
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045724
Gene: ENSMUSG00000041930
AA Change: H74Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM222A
|
30 |
157 |
8e-42 |
PFAM |
|
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,582,275 (GRCm39) |
E68G |
possibly damaging |
Het |
| Apob |
A |
G |
12: 8,044,879 (GRCm39) |
D820G |
probably damaging |
Het |
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,178,469 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,299,492 (GRCm39) |
L344P |
probably damaging |
Het |
| Cop1 |
G |
A |
1: 159,072,220 (GRCm39) |
V109M |
possibly damaging |
Het |
| Dennd4b |
T |
A |
3: 90,182,821 (GRCm39) |
N879K |
probably damaging |
Het |
| Fam13b |
T |
C |
18: 34,627,814 (GRCm39) |
D129G |
possibly damaging |
Het |
| Gata5 |
A |
G |
2: 179,970,113 (GRCm39) |
M278T |
possibly damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Iigp1c |
T |
A |
18: 60,378,542 (GRCm39) |
C26S |
probably benign |
Het |
| Inpp5k |
T |
G |
11: 75,530,313 (GRCm39) |
L251R |
probably damaging |
Het |
| Lrrc36 |
T |
G |
8: 106,187,651 (GRCm39) |
D522E |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nras |
T |
A |
3: 102,966,350 (GRCm39) |
|
probably null |
Het |
| Nudt12 |
A |
G |
17: 59,317,044 (GRCm39) |
V201A |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,988,754 (GRCm39) |
E39G |
unknown |
Het |
| Serpinb3a |
A |
T |
1: 106,975,291 (GRCm39) |
V172D |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,262,481 (GRCm39) |
I559T |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,039,728 (GRCm39) |
S1304T |
possibly damaging |
Het |
| Xrcc5 |
A |
T |
1: 72,385,485 (GRCm39) |
K525N |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,467 (GRCm39) |
V705D |
probably damaging |
Het |
|
| Other mutations in Fam222a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Fam222a
|
APN |
5 |
114,732,514 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
PIT4585001:Fam222a
|
UTSW |
5 |
114,749,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3087:Fam222a
|
UTSW |
5 |
114,750,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Fam222a
|
UTSW |
5 |
114,732,458 (GRCm39) |
nonsense |
probably null |
|
|
R5201:Fam222a
|
UTSW |
5 |
114,749,127 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5516:Fam222a
|
UTSW |
5 |
114,749,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Fam222a
|
UTSW |
5 |
114,749,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9217:Fam222a
|
UTSW |
5 |
114,748,905 (GRCm39) |
missense |
probably benign |
|
|
R9332:Fam222a
|
UTSW |
5 |
114,749,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9561:Fam222a
|
UTSW |
5 |
114,749,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTAGGTTTTGGTCCAGAAG -3'
(R):5'- CGACAGTTTAGTCCGCTTGC -3'
Sequencing Primer
(F):5'- AACTCCTGGAGGCGGTG -3'
(R):5'- CCCTCCACACTCTTGAGCACG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation