Incidental Mutation 'R7725:Fam187b'
| ID |
595444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam187b
|
| Ensembl Gene |
ENSMUSG00000046826 |
| Gene Name |
family with sequence similarity 187, member B |
| Synonyms |
1700020B09Rik, Tmem162 |
| MMRRC Submission |
045781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R7725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30673219-30689151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30677139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000058093
AA Change: D216G
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: D216G
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
| Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
| Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
| Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
| Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
| Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
| Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
| Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
| Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
| Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
| Shld2 |
T |
G |
14: 33,990,661 (GRCm39) |
T82P |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
| Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
| St3gal4 |
C |
A |
9: 34,964,375 (GRCm39) |
R209L |
possibly damaging |
Het |
| Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
| Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
| Txk |
G |
A |
5: 72,864,900 (GRCm39) |
A379V |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
| Zfp40 |
A |
G |
17: 23,397,251 (GRCm39) |
V82A |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
probably benign |
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 |
|
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 |
|
R9403:Fam187b
|
UTSW |
7 |
30,676,515 (GRCm39) |
missense |
|
|
|
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'- TTGCCAAAAGCCAGGTGAGC -3'
(R):5'- ACCATGAAGGCTTCTGGGTTG -3'
Sequencing Primer
(F):5'- TGAGCGCAAACGTCTAGGCTAC -3'
(R):5'- GGAAGAAGTGCTGGCTTGTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation