Incidental Mutation 'R0584:Fam98a'
| ID |
56587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98a
|
| Ensembl Gene |
ENSMUSG00000002017 |
| Gene Name |
family with sequence similarity 98, member A |
| Synonyms |
2810405J04Rik |
| MMRRC Submission |
038774-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
R0584 (G1)
|
| Quality Score |
163 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
75844081-75858941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75851772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 103
(L103P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112507]
|
| AlphaFold |
Q3TJZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112507
AA Change: L103P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: L103P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
11 |
328 |
1.1e-137 |
PFAM |
|
low complexity region
|
334 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141969
|
| Meta Mutation Damage Score |
0.1422 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,847,564 (GRCm39) |
S1745P |
probably damaging |
Het |
| Agfg2 |
G |
A |
5: 137,665,992 (GRCm39) |
T89I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,017 (GRCm39) |
I27M |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,087,047 (GRCm39) |
L206Q |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,546,632 (GRCm39) |
E472V |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,465,157 (GRCm39) |
V313E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,352,268 (GRCm39) |
I87V |
probably null |
Het |
| Ccl25 |
C |
T |
8: 4,404,085 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,263,571 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,494,078 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,881,315 (GRCm39) |
Y2587H |
probably damaging |
Het |
| Dppa3 |
T |
C |
6: 122,606,951 (GRCm39) |
I147T |
probably benign |
Het |
| Fam120b |
T |
C |
17: 15,622,384 (GRCm39) |
S121P |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,081 (GRCm39) |
T152M |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,814,113 (GRCm39) |
V203A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,733,074 (GRCm39) |
R1037Q |
probably damaging |
Het |
| Gm11563 |
A |
G |
11: 99,549,451 (GRCm39) |
I101T |
unknown |
Het |
| Gpd1l |
A |
G |
9: 114,743,412 (GRCm39) |
F163L |
probably damaging |
Het |
| Grp |
C |
A |
18: 66,006,766 (GRCm39) |
A30E |
possibly damaging |
Het |
| H1f7 |
C |
A |
15: 98,154,958 (GRCm39) |
E64* |
probably null |
Het |
| Icosl |
T |
C |
10: 77,907,709 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,747,180 (GRCm39) |
T1194A |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,433,039 (GRCm39) |
S1431P |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,670,467 (GRCm39) |
S1503P |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Myh13 |
G |
T |
11: 67,251,200 (GRCm39) |
E1360* |
probably null |
Het |
| Nop58 |
A |
G |
1: 59,745,919 (GRCm39) |
D400G |
probably benign |
Het |
| Or5p79 |
T |
C |
7: 108,221,622 (GRCm39) |
L201P |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,817 (GRCm39) |
V138A |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,977,387 (GRCm39) |
|
probably null |
Het |
| Pde9a |
A |
T |
17: 31,678,951 (GRCm39) |
Y264F |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,660 (GRCm39) |
K2763* |
probably null |
Het |
| Prkci |
T |
A |
3: 31,079,289 (GRCm39) |
C42* |
probably null |
Het |
| Ptprr |
T |
C |
10: 116,087,063 (GRCm39) |
V270A |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,311,335 (GRCm39) |
N688K |
possibly damaging |
Het |
| S1pr3 |
A |
T |
13: 51,573,697 (GRCm39) |
M293L |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,499,597 (GRCm39) |
L232R |
probably damaging |
Het |
| Sirt5 |
T |
A |
13: 43,548,204 (GRCm39) |
|
probably null |
Het |
| Sp6 |
C |
T |
11: 96,913,091 (GRCm39) |
T268M |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,194,921 (GRCm39) |
N76S |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,259,204 (GRCm39) |
N1560D |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,279 (GRCm39) |
L510P |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,779,494 (GRCm39) |
I401T |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,578 (GRCm39) |
V118A |
possibly damaging |
Het |
|
| Other mutations in Fam98a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Fam98a
|
APN |
17 |
75,858,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00548:Fam98a
|
APN |
17 |
75,845,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Fam98a
|
APN |
17 |
75,847,187 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02399:Fam98a
|
APN |
17 |
75,845,936 (GRCm39) |
splice site |
probably benign |
|
|
IGL03062:Fam98a
|
APN |
17 |
75,847,100 (GRCm39) |
splice site |
probably benign |
|
|
IGL03246:Fam98a
|
APN |
17 |
75,845,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0594:Fam98a
|
UTSW |
17 |
75,845,482 (GRCm39) |
nonsense |
probably null |
|
|
R1121:Fam98a
|
UTSW |
17 |
75,845,529 (GRCm39) |
missense |
unknown |
|
|
R1366:Fam98a
|
UTSW |
17 |
75,846,381 (GRCm39) |
splice site |
probably benign |
|
|
R1387:Fam98a
|
UTSW |
17 |
75,845,264 (GRCm39) |
missense |
unknown |
|
|
R1424:Fam98a
|
UTSW |
17 |
75,847,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Fam98a
|
UTSW |
17 |
75,848,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Fam98a
|
UTSW |
17 |
75,854,710 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2211:Fam98a
|
UTSW |
17 |
75,845,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4295:Fam98a
|
UTSW |
17 |
75,848,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Fam98a
|
UTSW |
17 |
75,848,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Fam98a
|
UTSW |
17 |
75,845,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5320:Fam98a
|
UTSW |
17 |
75,845,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:Fam98a
|
UTSW |
17 |
75,845,576 (GRCm39) |
missense |
unknown |
|
|
R6031:Fam98a
|
UTSW |
17 |
75,846,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6031:Fam98a
|
UTSW |
17 |
75,846,427 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7058:Fam98a
|
UTSW |
17 |
75,845,384 (GRCm39) |
missense |
unknown |
|
|
R7182:Fam98a
|
UTSW |
17 |
75,846,013 (GRCm39) |
nonsense |
probably null |
|
|
R7505:Fam98a
|
UTSW |
17 |
75,845,233 (GRCm39) |
missense |
unknown |
|
|
R7554:Fam98a
|
UTSW |
17 |
75,854,670 (GRCm39) |
nonsense |
probably null |
|
|
R7566:Fam98a
|
UTSW |
17 |
75,854,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Fam98a
|
UTSW |
17 |
75,845,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Fam98a
|
UTSW |
17 |
75,851,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Fam98a
|
UTSW |
17 |
75,854,684 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8827:Fam98a
|
UTSW |
17 |
75,851,824 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9375:Fam98a
|
UTSW |
17 |
75,848,330 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9625:Fam98a
|
UTSW |
17 |
75,845,474 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCAAAGCACCACTGGCGTG -3'
(R):5'- ACAGTTGGGAGGAGTCTTTGAAAGC -3'
Sequencing Primer
(F):5'- ACTGGCGTGCATCCCTC -3'
(R):5'- agtggaaggaggagggatg -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation