Incidental Mutation 'IGL03175:Fam98b'
| ID |
411970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam98b
|
| Ensembl Gene |
ENSMUSG00000027349 |
| Gene Name |
family with sequence similarity 98, member B |
| Synonyms |
2610510H03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
IGL03175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
117080220-117102021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117089719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 79
(S79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028825]
|
| AlphaFold |
Q80VD1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028825
AA Change: S79G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028825
Gene: ENSMUSG00000027349
AA Change: S79G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
17 |
331 |
2e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143612
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,103 (GRCm39) |
L229P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,171,136 (GRCm39) |
W1862* |
probably null |
Het |
| Adgrg6 |
A |
G |
10: 14,315,502 (GRCm39) |
S601P |
probably benign |
Het |
| Bpifb3 |
T |
C |
2: 153,761,568 (GRCm39) |
Y6H |
unknown |
Het |
| Calr3 |
A |
G |
8: 73,197,449 (GRCm39) |
F27L |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,437 (GRCm39) |
Q247R |
probably benign |
Het |
| Cldn20 |
T |
C |
17: 3,583,409 (GRCm39) |
I194T |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,840,952 (GRCm39) |
P468S |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,672 (GRCm39) |
E253D |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,876,259 (GRCm39) |
T475S |
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,829,649 (GRCm39) |
D299Y |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,965,416 (GRCm39) |
E470G |
possibly damaging |
Het |
| Hmmr |
T |
C |
11: 40,605,636 (GRCm39) |
M318V |
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,821,963 (GRCm39) |
I419K |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,410 (GRCm39) |
F412L |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,925 (GRCm39) |
T308K |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,279,199 (GRCm39) |
Y955H |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,127,304 (GRCm39) |
I916V |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,121,730 (GRCm39) |
H497R |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,012,671 (GRCm39) |
I635T |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,438,686 (GRCm39) |
V3416A |
probably benign |
Het |
|
| Other mutations in Fam98b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02642:Fam98b
|
APN |
2 |
117,090,793 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0384:Fam98b
|
UTSW |
2 |
117,098,328 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1035:Fam98b
|
UTSW |
2 |
117,101,120 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2207:Fam98b
|
UTSW |
2 |
117,098,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Fam98b
|
UTSW |
2 |
117,098,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4273:Fam98b
|
UTSW |
2 |
117,090,712 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5276:Fam98b
|
UTSW |
2 |
117,089,779 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5325:Fam98b
|
UTSW |
2 |
117,101,132 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5460:Fam98b
|
UTSW |
2 |
117,089,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Fam98b
|
UTSW |
2 |
117,098,267 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5627:Fam98b
|
UTSW |
2 |
117,098,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Fam98b
|
UTSW |
2 |
117,093,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7252:Fam98b
|
UTSW |
2 |
117,094,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7502:Fam98b
|
UTSW |
2 |
117,094,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Fam98b
|
UTSW |
2 |
117,080,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Fam98b
|
UTSW |
2 |
117,093,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8439:Fam98b
|
UTSW |
2 |
117,101,381 (GRCm39) |
missense |
unknown |
|
|
R9454:Fam98b
|
UTSW |
2 |
117,080,250 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation