Incidental Mutation 'IGL00337:Fam98a'
ID |
5744 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fam98a
|
Ensembl Gene |
ENSMUSG00000002017 |
Gene Name |
family with sequence similarity 98, member A |
Synonyms |
2810405J04Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.678)
|
Stock # |
IGL00337
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
75844081-75858941 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75858742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112507]
|
AlphaFold |
Q3TJZ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112507
AA Change: D16G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108126 Gene: ENSMUSG00000002017 AA Change: D16G
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: ENSMUST00000141969
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1ar |
A |
T |
3: 127,614,401 (GRCm39) |
|
probably benign |
Het |
Ap1ar |
A |
C |
3: 127,614,400 (GRCm39) |
|
probably benign |
Het |
Apip |
A |
T |
2: 102,922,257 (GRCm39) |
T208S |
probably benign |
Het |
Arhgap11a |
A |
G |
2: 113,672,287 (GRCm39) |
V227A |
probably damaging |
Het |
Atrn |
G |
T |
2: 130,799,999 (GRCm39) |
V459F |
probably damaging |
Het |
Cep295 |
T |
C |
9: 15,237,368 (GRCm39) |
|
probably null |
Het |
Cfhr1 |
A |
G |
1: 139,484,253 (GRCm39) |
|
probably benign |
Het |
D5Ertd615e |
A |
G |
5: 45,320,769 (GRCm39) |
|
noncoding transcript |
Het |
Dhx29 |
A |
G |
13: 113,101,137 (GRCm39) |
I1227V |
probably benign |
Het |
Frk |
A |
G |
10: 34,360,239 (GRCm39) |
D80G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,787,600 (GRCm39) |
H354Q |
probably damaging |
Het |
Ggps1 |
G |
A |
13: 14,228,973 (GRCm39) |
S70L |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Hpx |
T |
C |
7: 105,240,977 (GRCm39) |
Y432C |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Il10rb |
G |
A |
16: 91,203,227 (GRCm39) |
A8T |
probably benign |
Het |
Ing5 |
G |
T |
1: 93,733,816 (GRCm39) |
M1I |
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,189 (GRCm39) |
D420N |
probably benign |
Het |
Kcnj8 |
T |
C |
6: 142,515,961 (GRCm39) |
N49D |
probably damaging |
Het |
Kif26b |
C |
A |
1: 178,743,213 (GRCm39) |
A656D |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,946,361 (GRCm39) |
E488G |
probably damaging |
Het |
Mtmr4 |
C |
T |
11: 87,502,750 (GRCm39) |
H878Y |
probably benign |
Het |
Ndufaf7 |
T |
C |
17: 79,254,520 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
G |
7: 106,781,308 (GRCm39) |
D168E |
possibly damaging |
Het |
Ogdhl |
T |
C |
14: 32,055,669 (GRCm39) |
F251S |
probably damaging |
Het |
Or1p1 |
T |
C |
11: 74,180,213 (GRCm39) |
V247A |
probably damaging |
Het |
P2rx5 |
A |
T |
11: 73,058,318 (GRCm39) |
|
probably null |
Het |
Parp14 |
G |
A |
16: 35,661,445 (GRCm39) |
T1501I |
probably benign |
Het |
Prl3c1 |
C |
A |
13: 27,384,746 (GRCm39) |
T85K |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,295,729 (GRCm39) |
Y239H |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,493,872 (GRCm39) |
R300G |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,499 (GRCm39) |
S839P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,317,329 (GRCm39) |
D56V |
probably damaging |
Het |
Srrt |
C |
T |
5: 137,294,240 (GRCm39) |
|
probably benign |
Het |
Sstr3 |
T |
A |
15: 78,424,667 (GRCm39) |
T27S |
probably benign |
Het |
Taf1d |
C |
A |
9: 15,222,899 (GRCm39) |
S255Y |
probably damaging |
Het |
Tbc1d15 |
C |
A |
10: 115,045,546 (GRCm39) |
E473* |
probably null |
Het |
Tmem247 |
T |
C |
17: 87,224,963 (GRCm39) |
V24A |
probably benign |
Het |
Txnrd2 |
T |
C |
16: 18,296,519 (GRCm39) |
C494R |
probably damaging |
Het |
Zfp180 |
A |
G |
7: 23,784,894 (GRCm39) |
D5G |
probably damaging |
Het |
|
Other mutations in Fam98a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
|
|
Posted On |
2012-04-20 |