Incidental Mutation 'R3118:Fam241b'
| ID |
477747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam241b
|
| Ensembl Gene |
ENSMUSG00000020083 |
| Gene Name |
family with sequence similarity 241, member B |
| Synonyms |
2010107G23Rik |
| MMRRC Submission |
040591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R3118 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61943435-61946829 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 61944635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 121
(*121R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027719]
[ENSMUST00000064050]
[ENSMUST00000124615]
[ENSMUST00000125704]
[ENSMUST00000141144]
[ENSMUST00000141724]
[ENSMUST00000142796]
[ENSMUST00000142821]
[ENSMUST00000150057]
[ENSMUST00000156798]
|
| AlphaFold |
Q9D882 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027719
AA Change: *101R
|
| SMART Domains |
Protein: ENSMUSP00000027719
Gene: ENSMUSG00000020083
AA Change: *101R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
40 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
41 |
100 |
9.6e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064050
AA Change: *121R
|
| SMART Domains |
Protein: ENSMUSP00000063504
Gene: ENSMUSG00000020083
AA Change: *121R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
120 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124615
AA Change: *121R
|
| SMART Domains |
Protein: ENSMUSP00000118912
Gene: ENSMUSG00000020083
AA Change: *121R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
120 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125704
AA Change: *121R
|
| SMART Domains |
Protein: ENSMUSP00000115865
Gene: ENSMUSG00000020083
AA Change: *121R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
120 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141144
|
| SMART Domains |
Protein: ENSMUSP00000119982
Gene: ENSMUSG00000020083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
99 |
9.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141724
|
| SMART Domains |
Protein: ENSMUSP00000119343
Gene: ENSMUSG00000020083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
83 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
84 |
123 |
6.6e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142796
AA Change: *121R
|
| SMART Domains |
Protein: ENSMUSP00000116424
Gene: ENSMUSG00000020083
AA Change: *121R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
120 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142821
AA Change: *121R
|
| SMART Domains |
Protein: ENSMUSP00000119289
Gene: ENSMUSG00000020083
AA Change: *121R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
120 |
2e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150057
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156798
|
| SMART Domains |
Protein: ENSMUSP00000115712
Gene: ENSMUSG00000020083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
60 |
N/A |
INTRINSIC |
|
Pfam:DUF4605
|
61 |
100 |
3e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
G |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,826,827 (GRCm39) |
V228A |
possibly damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,442 (GRCm39) |
I486V |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,235,493 (GRCm39) |
T500A |
possibly damaging |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Cxcl1 |
T |
A |
5: 91,039,454 (GRCm39) |
|
probably null |
Het |
| Dab1 |
G |
A |
4: 104,537,266 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
T |
A |
17: 66,456,272 (GRCm39) |
M751K |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,831,753 (GRCm39) |
V402I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,443 (GRCm39) |
V471A |
probably benign |
Het |
| Lemd3 |
A |
G |
10: 120,783,156 (GRCm39) |
S557P |
probably benign |
Het |
| Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,693 (GRCm39) |
Y243H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pak6 |
T |
C |
2: 118,520,222 (GRCm39) |
V71A |
probably damaging |
Het |
| Pira2 |
T |
A |
7: 3,844,676 (GRCm39) |
R452* |
probably null |
Het |
| Plxna1 |
A |
G |
6: 89,333,958 (GRCm39) |
S224P |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,242,045 (GRCm39) |
K665* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,470 (GRCm39) |
I447T |
probably damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ugt1a9 |
T |
C |
1: 87,998,562 (GRCm39) |
V4A |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,468,963 (GRCm39) |
I95M |
probably benign |
Het |
|
| Other mutations in Fam241b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03226:Fam241b
|
APN |
10 |
61,945,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0898:Fam241b
|
UTSW |
10 |
61,944,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1535:Fam241b
|
UTSW |
10 |
61,944,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Fam241b
|
UTSW |
10 |
61,945,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7311:Fam241b
|
UTSW |
10 |
61,944,733 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7625:Fam241b
|
UTSW |
10 |
61,970,479 (GRCm39) |
unclassified |
probably benign |
|
|
R7875:Fam241b
|
UTSW |
10 |
61,970,271 (GRCm39) |
missense |
|
|
|
R9135:Fam241b
|
UTSW |
10 |
61,944,892 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation