Incidental Mutation 'R1121:Fam98a'
ID |
95688 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam98a
|
Ensembl Gene |
ENSMUSG00000002017 |
Gene Name |
family with sequence similarity 98, member A |
Synonyms |
2810405J04Rik |
MMRRC Submission |
039194-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.642)
|
Stock # |
R1121 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
75844081-75858941 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75845529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 406
(G406C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112507]
|
AlphaFold |
Q3TJZ6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000112507
AA Change: G406C
|
SMART Domains |
Protein: ENSMUSP00000108126 Gene: ENSMUSG00000002017 AA Change: G406C
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
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
probably benign |
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 |
R0584:Fam98a
|
UTSW |
17 |
75,851,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Fam98a
|
UTSW |
17 |
75,845,482 (GRCm39) |
nonsense |
probably null |
|
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'- AAGTGCTGTTCAAACTGGCCCC -3'
(R):5'- GGTAAGGTCTCTGTTGCTCACCTTC -3'
Sequencing Primer
(F):5'- cctcttcctccccagcc -3'
(R):5'- GCCTGTGCCATTAATAAGGTGAC -3'
|
Posted On |
2014-01-05 |