Incidental Mutation 'R3784:Fam161b'
| ID |
272186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam161b
|
| Ensembl Gene |
ENSMUSG00000021234 |
| Gene Name |
family with sequence similarity 161, member B |
| Synonyms |
9830169C18Rik |
| MMRRC Submission |
040876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R3784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84392083-84408607 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 84408464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021659]
[ENSMUST00000021661]
[ENSMUST00000065536]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000152913]
|
| AlphaFold |
Q8CB59 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021659
|
| SMART Domains |
Protein: ENSMUSP00000021659
Gene: ENSMUSG00000021234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
Pfam:UPF0564
|
168 |
535 |
5.3e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021661
|
| SMART Domains |
Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
3.9e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000065536
|
| SMART Domains |
Protein: ENSMUSP00000070407
Gene: ENSMUSG00000021234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
107 |
N/A |
INTRINSIC |
|
Pfam:UPF0564
|
168 |
535 |
8.3e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110276
|
| SMART Domains |
Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
5.1e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110278
|
| SMART Domains |
Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
6.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
410 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153450
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145522
|
| SMART Domains |
Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SCOP:d1foha5
|
35 |
167 |
2e-6 |
SMART |
|
PDB:4K22|B
|
90 |
156 |
3e-8 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152913
|
| SMART Domains |
Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1foha5
|
39 |
269 |
1e-10 |
SMART |
|
PDB:4K22|B
|
94 |
274 |
1e-20 |
PDB |
|
| Meta Mutation Damage Score |
0.9482 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,798,190 (GRCm39) |
I779V |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
| Cfap206 |
A |
T |
4: 34,716,445 (GRCm39) |
I340N |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
| Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
| Foxg1 |
A |
G |
12: 49,432,382 (GRCm39) |
T372A |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Spats2l |
A |
G |
1: 57,924,938 (GRCm39) |
E112G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Taf15 |
G |
A |
11: 83,397,248 (GRCm39) |
D313N |
unknown |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly damaging |
Het |
|
| Other mutations in Fam161b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Fam161b
|
APN |
12 |
84,408,525 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00900:Fam161b
|
APN |
12 |
84,402,743 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00905:Fam161b
|
APN |
12 |
84,404,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01123:Fam161b
|
APN |
12 |
84,404,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02156:Fam161b
|
APN |
12 |
84,401,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02630:Fam161b
|
APN |
12 |
84,400,688 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02670:Fam161b
|
APN |
12 |
84,404,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03160:Fam161b
|
APN |
12 |
84,400,599 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0560:Fam161b
|
UTSW |
12 |
84,404,492 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0569:Fam161b
|
UTSW |
12 |
84,395,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Fam161b
|
UTSW |
12 |
84,395,552 (GRCm39) |
splice site |
probably benign |
|
|
R2070:Fam161b
|
UTSW |
12 |
84,403,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3786:Fam161b
|
UTSW |
12 |
84,408,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4697:Fam161b
|
UTSW |
12 |
84,395,332 (GRCm39) |
unclassified |
probably benign |
|
|
R5247:Fam161b
|
UTSW |
12 |
84,404,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Fam161b
|
UTSW |
12 |
84,395,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Fam161b
|
UTSW |
12 |
84,403,124 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6891:Fam161b
|
UTSW |
12 |
84,401,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Fam161b
|
UTSW |
12 |
84,395,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Fam161b
|
UTSW |
12 |
84,404,575 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7514:Fam161b
|
UTSW |
12 |
84,404,512 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8035:Fam161b
|
UTSW |
12 |
84,395,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Fam161b
|
UTSW |
12 |
84,393,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8428:Fam161b
|
UTSW |
12 |
84,404,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8921:Fam161b
|
UTSW |
12 |
84,395,056 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9638:Fam161b
|
UTSW |
12 |
84,403,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0019:Fam161b
|
UTSW |
12 |
84,401,747 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1176:Fam161b
|
UTSW |
12 |
84,402,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCCTGGTACAAGACAC -3'
(R):5'- AGAAGACGCTCTTGCCTCATTG -3'
Sequencing Primer
(F):5'- GCCTGGTACAAGACACAAAAG -3'
(R):5'- CTCATTGGGCGGAACAGAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation