Incidental Mutation 'R1035:Fam98b'
| ID |
95503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98b
|
| Ensembl Gene |
ENSMUSG00000027349 |
| Gene Name |
family with sequence similarity 98, member B |
| Synonyms |
2610510H03Rik |
| MMRRC Submission |
039134-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R1035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117080220-117102021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117101120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 311
(R311W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028825]
|
| AlphaFold |
Q80VD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028825
AA Change: R311W
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028825
Gene: ENSMUSG00000027349
AA Change: R311W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2465
|
17 |
331 |
2e-135 |
PFAM |
|
| Meta Mutation Damage Score |
0.1824 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.4%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,113,659 (GRCm39) |
L850Q |
unknown |
Het |
| Asxl3 |
T |
C |
18: 22,658,106 (GRCm39) |
S2039P |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,235 (GRCm39) |
M109K |
probably damaging |
Het |
| Caskin1 |
A |
G |
17: 24,724,011 (GRCm39) |
N933S |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,883,989 (GRCm39) |
N77S |
possibly damaging |
Het |
| Chek1 |
A |
G |
9: 36,627,769 (GRCm39) |
I256T |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,704,795 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,616,473 (GRCm39) |
S360L |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,167,202 (GRCm39) |
S222P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,608 (GRCm39) |
I471V |
probably benign |
Het |
| Ear2 |
A |
T |
14: 44,340,344 (GRCm39) |
M1L |
possibly damaging |
Het |
| Entpd6 |
T |
A |
2: 150,606,112 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Ggt7 |
A |
T |
2: 155,348,347 (GRCm39) |
C102S |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,401,384 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
C |
T |
7: 26,070,702 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,280,238 (GRCm39) |
S688P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,944,900 (GRCm39) |
F1319L |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,579,803 (GRCm39) |
Y446H |
unknown |
Het |
| Spmap2 |
G |
A |
10: 79,419,684 (GRCm39) |
T182M |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,801,758 (GRCm39) |
T88A |
probably benign |
Het |
| Tas2r143 |
A |
T |
6: 42,377,199 (GRCm39) |
I10F |
probably benign |
Het |
| Tmprss12 |
G |
A |
15: 100,183,081 (GRCm39) |
R141Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,961,527 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
A |
G |
14: 45,410,020 (GRCm39) |
S187P |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,011 (GRCm39) |
I671T |
possibly damaging |
Het |
| Zfp78 |
G |
T |
7: 6,381,660 (GRCm39) |
V237F |
probably damaging |
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 |
|
IGL03175:Fam98b
|
APN |
2 |
117,089,719 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0384:Fam98b
|
UTSW |
2 |
117,098,328 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTACCTCGGAATGCAGTCTTC -3'
(R):5'- TAATCGCCCCTGCCTTGGAAAC -3'
Sequencing Primer
(F):5'- CGGAATGCAGTCTTCTTTGATAACC -3'
(R):5'- ccctcccccaccacttc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation