Incidental Mutation 'R4295:Fam98a'
| ID |
323284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam98a
|
| Ensembl Gene |
ENSMUSG00000002017 |
| Gene Name |
family with sequence similarity 98, member A |
| Synonyms |
2810405J04Rik |
| MMRRC Submission |
041084-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.642)
|
| Stock # |
R4295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75844081-75858941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75848342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 124
(M124K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112507]
|
| AlphaFold |
Q3TJZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112507
AA Change: M124K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: M124K
| 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
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,606,249 (GRCm39) |
S164P |
probably benign |
Het |
| 4933427D06Rik |
A |
G |
6: 89,084,883 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
C |
T |
10: 83,331,784 (GRCm39) |
V674M |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,756,479 (GRCm39) |
I870V |
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,653,239 (GRCm39) |
V3A |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,875 (GRCm39) |
N302S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,009,598 (GRCm39) |
I363N |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Foxj3 |
G |
T |
4: 119,483,494 (GRCm39) |
G555* |
probably null |
Het |
| Gm4841 |
T |
C |
18: 60,403,262 (GRCm39) |
N277S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,363,410 (GRCm39) |
D863G |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lcn11 |
G |
A |
2: 25,668,111 (GRCm39) |
A90T |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,614 (GRCm39) |
Y165H |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,090 (GRCm39) |
F257I |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pcgf2 |
A |
T |
11: 97,584,282 (GRCm39) |
Y24* |
probably null |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pigf |
A |
G |
17: 87,331,184 (GRCm39) |
I46T |
probably benign |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,590 (GRCm39) |
E65G |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,972,898 (GRCm39) |
D514G |
probably damaging |
Het |
| Ttll11 |
TCGCCGCCGCCGCCGCCGCCGC |
TCGCCGCCGCCGCCGCCGC |
2: 35,869,564 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,641,786 (GRCm39) |
S1236P |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,590,381 (GRCm39) |
D2364E |
possibly damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,665,057 (GRCm39) |
I52M |
probably benign |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,816,836 (GRCm39) |
F154L |
probably 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 |
|
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 |
|
|
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'- AATACGCTACAATCGGTACTAAAGG -3'
(R):5'- GAATACCTGAGTTGCATAATCAGTG -3'
Sequencing Primer
(F):5'- GCTACAATCGGTACTAAAGGTCTTAC -3'
(R):5'- CCTGAGTTGCATAATCAGTGTAATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation