Incidental Mutation 'R7639:Fam234b'
| ID |
628302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam234b
|
| Ensembl Gene |
ENSMUSG00000030207 |
| Gene Name |
family with sequence similarity 234, member B |
| Synonyms |
8430419L09Rik |
| MMRRC Submission |
045697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
135173881-135213240 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 135202798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111915]
[ENSMUST00000111915]
[ENSMUST00000111916]
[ENSMUST00000111916]
|
| AlphaFold |
Q8BYI8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111915
|
| SMART Domains |
Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111915
|
| SMART Domains |
Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111916
|
| SMART Domains |
Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111916
|
| SMART Domains |
Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
500 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
528 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,977,531 (GRCm39) |
M381L |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,669,173 (GRCm39) |
L184Q |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,697,614 (GRCm39) |
V410A |
possibly damaging |
Het |
| Bhmt2 |
C |
T |
13: 93,799,822 (GRCm39) |
G205R |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,414,502 (GRCm39) |
D405G |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,043,648 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
T |
4: 45,928,043 (GRCm39) |
I1193F |
possibly damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,143 (GRCm39) |
C478R |
possibly damaging |
Het |
| Celsr1 |
C |
T |
15: 85,814,073 (GRCm39) |
E1950K |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
| Defa34 |
A |
T |
8: 22,155,883 (GRCm39) |
K24I |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,582,769 (GRCm39) |
D136Y |
probably damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,141,254 (GRCm39) |
V1258F |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,716 (GRCm39) |
S1181P |
probably damaging |
Het |
| Evl |
A |
G |
12: 108,652,362 (GRCm39) |
D366G |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,018,134 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
T |
A |
7: 18,870,560 (GRCm39) |
V393E |
probably damaging |
Het |
| Gkap1 |
T |
G |
13: 58,411,784 (GRCm39) |
K63T |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,037,791 (GRCm39) |
D742V |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,046,341 (GRCm39) |
V515A |
possibly damaging |
Het |
| Itga10 |
G |
A |
3: 96,556,898 (GRCm39) |
V207I |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,357,743 (GRCm39) |
Y274F |
probably benign |
Het |
| Mettl8 |
A |
T |
2: 70,812,526 (GRCm39) |
S36R |
probably benign |
Het |
| Miip |
A |
T |
4: 147,947,021 (GRCm39) |
M244K |
probably benign |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,398,860 (GRCm39) |
N574S |
probably benign |
Het |
| Nlrc4 |
C |
T |
17: 74,754,952 (GRCm39) |
|
probably null |
Het |
| Oas2 |
C |
T |
5: 120,883,751 (GRCm39) |
W244* |
probably null |
Het |
| Oat |
A |
T |
7: 132,168,530 (GRCm39) |
I163N |
probably damaging |
Het |
| Or7a41 |
A |
G |
10: 78,871,206 (GRCm39) |
D192G |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,235,187 (GRCm39) |
M273T |
possibly damaging |
Het |
| Poln |
A |
C |
5: 34,290,495 (GRCm39) |
V60G |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,800,049 (GRCm39) |
A699E |
probably damaging |
Het |
| Rims1 |
A |
T |
1: 22,844,750 (GRCm39) |
M19K |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,422,184 (GRCm39) |
L89P |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,140,244 (GRCm39) |
S116P |
probably damaging |
Het |
| Rtn3 |
C |
T |
19: 7,435,356 (GRCm39) |
C212Y |
probably benign |
Het |
| Smcp |
G |
A |
3: 92,491,797 (GRCm39) |
P17S |
unknown |
Het |
| Syne2 |
A |
C |
12: 75,981,273 (GRCm39) |
E1525A |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,158 (GRCm39) |
D172G |
probably benign |
Het |
| Traf2 |
TAGA |
TA |
2: 25,427,100 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,957,137 (GRCm39) |
T760A |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,840,450 (GRCm39) |
S134C |
probably damaging |
Het |
| Zfp729b |
C |
T |
13: 67,739,971 (GRCm39) |
V765I |
probably benign |
Het |
|
| Other mutations in Fam234b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00536:Fam234b
|
APN |
6 |
135,202,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01020:Fam234b
|
APN |
6 |
135,188,904 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01731:Fam234b
|
APN |
6 |
135,188,903 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01994:Fam234b
|
APN |
6 |
135,202,203 (GRCm39) |
nonsense |
probably null |
|
|
IGL02010:Fam234b
|
APN |
6 |
135,186,405 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02071:Fam234b
|
APN |
6 |
135,204,149 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02340:Fam234b
|
APN |
6 |
135,208,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Fam234b
|
APN |
6 |
135,202,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Fam234b
|
UTSW |
6 |
135,204,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0076:Fam234b
|
UTSW |
6 |
135,204,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0123:Fam234b
|
UTSW |
6 |
135,194,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0127:Fam234b
|
UTSW |
6 |
135,195,821 (GRCm39) |
splice site |
probably benign |
|
|
R0225:Fam234b
|
UTSW |
6 |
135,194,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0570:Fam234b
|
UTSW |
6 |
135,186,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0705:Fam234b
|
UTSW |
6 |
135,204,213 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1140:Fam234b
|
UTSW |
6 |
135,202,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1446:Fam234b
|
UTSW |
6 |
135,186,328 (GRCm39) |
splice site |
probably null |
|
|
R1464:Fam234b
|
UTSW |
6 |
135,205,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Fam234b
|
UTSW |
6 |
135,205,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2044:Fam234b
|
UTSW |
6 |
135,203,912 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2350:Fam234b
|
UTSW |
6 |
135,208,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Fam234b
|
UTSW |
6 |
135,202,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Fam234b
|
UTSW |
6 |
135,186,134 (GRCm39) |
missense |
unknown |
|
|
R5102:Fam234b
|
UTSW |
6 |
135,186,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5133:Fam234b
|
UTSW |
6 |
135,186,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5313:Fam234b
|
UTSW |
6 |
135,186,185 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5375:Fam234b
|
UTSW |
6 |
135,210,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Fam234b
|
UTSW |
6 |
135,203,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5838:Fam234b
|
UTSW |
6 |
135,202,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5953:Fam234b
|
UTSW |
6 |
135,202,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6737:Fam234b
|
UTSW |
6 |
135,205,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7056:Fam234b
|
UTSW |
6 |
135,205,450 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7221:Fam234b
|
UTSW |
6 |
135,205,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Fam234b
|
UTSW |
6 |
135,194,009 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7459:Fam234b
|
UTSW |
6 |
135,188,899 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7599:Fam234b
|
UTSW |
6 |
135,203,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Fam234b
|
UTSW |
6 |
135,202,241 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7748:Fam234b
|
UTSW |
6 |
135,186,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Fam234b
|
UTSW |
6 |
135,220,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8544:Fam234b
|
UTSW |
6 |
135,210,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9324:Fam234b
|
UTSW |
6 |
135,202,793 (GRCm39) |
nonsense |
probably null |
|
|
R9733:Fam234b
|
UTSW |
6 |
135,194,008 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Z1177:Fam234b
|
UTSW |
6 |
135,175,006 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGCTGCTCAATTTGAC -3'
(R):5'- CCTTTAGTTGTTCTAATTCGGACTG -3'
Sequencing Primer
(F):5'- ACTCTTCCTGTGGCACTAGGAAAC -3'
(R):5'- AGTTGTTCTAATTCGGACTGTTAAG -3'
|
| Posted On |
2020-02-27 |
Incidental Mutation