Incidental Mutation 'R9403:Fam187b'
| ID |
711342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam187b
|
| Ensembl Gene |
ENSMUSG00000046826 |
| Gene Name |
family with sequence similarity 187, member B |
| Synonyms |
1700020B09Rik, Tmem162 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
30673219-30689151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30676515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001279]
[ENSMUST00000058093]
[ENSMUST00000098553]
[ENSMUST00000108116]
[ENSMUST00000128384]
[ENSMUST00000129773]
[ENSMUST00000147431]
[ENSMUST00000205961]
|
| AlphaFold |
Q0VAY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001279
|
| SMART Domains |
Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
Pfam:LSR
|
206 |
253 |
9.6e-27 |
PFAM |
|
low complexity region
|
280 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
558 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Blast:IG
|
27 |
116 |
4e-30 |
BLAST |
|
Blast:IG_like
|
223 |
290 |
4e-6 |
BLAST |
|
transmembrane domain
|
324 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098553
|
| SMART Domains |
Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108116
|
| SMART Domains |
Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
IG
|
43 |
186 |
1.23e-3 |
SMART |
|
Pfam:LSR
|
187 |
235 |
2.3e-25 |
PFAM |
|
low complexity region
|
261 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128384
|
| SMART Domains |
Protein: ENSMUSP00000144424
Gene: ENSMUSG00000046826
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Blast:IG
|
45 |
133 |
2e-17 |
BLAST |
|
SCOP:d1wiu__
|
53 |
125 |
1e-3 |
SMART |
|
IG_like
|
238 |
306 |
1.9e-2 |
SMART |
|
transmembrane domain
|
340 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129773
|
| SMART Domains |
Protein: ENSMUSP00000144533
Gene: ENSMUSG00000046826
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147431
|
| SMART Domains |
Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205961
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,181,944 (GRCm39) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,639,008 (GRCm39) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,691,467 (GRCm39) |
W285S |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,199,179 (GRCm39) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,219,572 (GRCm39) |
M434L |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,680 (GRCm39) |
T130A |
probably damaging |
Het |
| Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,593,145 (GRCm39) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,409,905 (GRCm39) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,696,012 (GRCm39) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,748,817 (GRCm39) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,176,909 (GRCm39) |
R635H |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,142,280 (GRCm39) |
T255P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,537,843 (GRCm39) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 36,882,215 (GRCm39) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,471,852 (GRCm39) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,302,349 (GRCm39) |
H22N |
probably benign |
Het |
| Semp2l2b |
C |
T |
10: 21,943,840 (GRCm39) |
D47N |
possibly damaging |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,066,747 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,066,745 (GRCm39) |
|
probably null |
Het |
| Slc2a3 |
A |
C |
6: 122,713,569 (GRCm39) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,810,016 (GRCm39) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,684 (GRCm39) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Fam187b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0131:Fam187b
|
UTSW |
7 |
30,688,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Fam187b
|
UTSW |
7 |
30,688,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Fam187b
|
UTSW |
7 |
30,688,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0594:Fam187b
|
UTSW |
7 |
30,676,579 (GRCm39) |
nonsense |
probably null |
|
|
R1728:Fam187b
|
UTSW |
7 |
30,688,445 (GRCm39) |
nonsense |
probably null |
|
|
R2965:Fam187b
|
UTSW |
7 |
30,677,154 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3104:Fam187b
|
UTSW |
7 |
30,676,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3106:Fam187b
|
UTSW |
7 |
30,676,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4607:Fam187b
|
UTSW |
7 |
30,677,170 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4608:Fam187b
|
UTSW |
7 |
30,677,170 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4612:Fam187b
|
UTSW |
7 |
30,676,518 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4672:Fam187b
|
UTSW |
7 |
30,676,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Fam187b
|
UTSW |
7 |
30,676,515 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4802:Fam187b
|
UTSW |
7 |
30,676,515 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4959:Fam187b
|
UTSW |
7 |
30,681,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Fam187b
|
UTSW |
7 |
30,676,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Fam187b
|
UTSW |
7 |
30,677,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6624:Fam187b
|
UTSW |
7 |
30,676,612 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6823:Fam187b
|
UTSW |
7 |
30,688,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7725:Fam187b
|
UTSW |
7 |
30,677,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8686:Fam187b
|
UTSW |
7 |
30,676,659 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9342:Fam187b
|
UTSW |
7 |
30,677,185 (GRCm39) |
nonsense |
probably null |
|
|
R9350:Fam187b
|
UTSW |
7 |
30,677,037 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9443:Fam187b
|
UTSW |
7 |
30,677,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Fam187b
|
UTSW |
7 |
30,688,745 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAATAATTCTATTTCCTGGGGAC -3'
(R):5'- GTTGACCAGGGACAGTTTGTC -3'
Sequencing Primer
(F):5'- CGCATATAGGTCTGTGCATCAC -3'
(R):5'- GACAGTTTGTCCTCTAAAGATGAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation