Incidental Mutation 'R6624:Fam187b'
| ID |
524659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam187b
|
| Ensembl Gene |
ENSMUSG00000046826 |
| Gene Name |
family with sequence similarity 187, member B |
| Synonyms |
1700020B09Rik, Tmem162 |
| MMRRC Submission |
044746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6624 (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 30676612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 40
(I40M)
|
| 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 |
probably benign
Transcript: ENSMUST00000058093
AA Change: I40M
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057020
Gene: ENSMUSG00000046826
AA Change: I40M
| 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 |
noncoding transcript
Transcript: ENSMUST00000206754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205961
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,298 (GRCm39) |
E852K |
possibly damaging |
Het |
| Cib3 |
T |
A |
8: 72,959,582 (GRCm39) |
I96F |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,407,996 (GRCm39) |
P841S |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,360,100 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
A |
T |
4: 63,143,248 (GRCm39) |
H312L |
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,115,855 (GRCm39) |
I197T |
probably damaging |
Het |
| Cyp4f40 |
C |
T |
17: 32,890,154 (GRCm39) |
R275C |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,129 (GRCm39) |
S515P |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,545,653 (GRCm39) |
Y262* |
probably null |
Het |
| Ergic3 |
T |
A |
2: 155,858,818 (GRCm39) |
M286K |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,777,006 (GRCm39) |
A305T |
probably benign |
Het |
| Fcho1 |
T |
G |
8: 72,162,015 (GRCm39) |
K798T |
probably damaging |
Het |
| Iah1 |
C |
T |
12: 21,369,785 (GRCm39) |
Q100* |
probably null |
Het |
| Jak2 |
T |
C |
19: 29,259,989 (GRCm39) |
I296T |
probably damaging |
Het |
| Lats2 |
A |
G |
14: 57,931,769 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,704,929 (GRCm39) |
H319L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,482 (GRCm39) |
N939D |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,966,215 (GRCm39) |
T53A |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,359,710 (GRCm39) |
E421K |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,743 (GRCm39) |
I49T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,256,822 (GRCm39) |
S509P |
possibly damaging |
Het |
| Pou4f3 |
A |
T |
18: 42,528,707 (GRCm39) |
I217F |
probably damaging |
Het |
| Ppara |
C |
A |
15: 85,675,237 (GRCm39) |
N235K |
probably benign |
Het |
| Prrg2 |
T |
C |
7: 44,709,410 (GRCm39) |
Y73C |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,702,378 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
G |
7: 98,364,793 (GRCm39) |
Y320* |
probably null |
Het |
| Trpm6 |
A |
G |
19: 18,773,803 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,866,384 (GRCm39) |
C1978S |
probably damaging |
Het |
| Usp33 |
A |
G |
3: 152,087,435 (GRCm39) |
Y708C |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,051,642 (GRCm39) |
T669M |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,343,073 (GRCm39) |
I484T |
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 |
|
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 |
|
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'- GGAGAAACTCGCTGAACCAC -3'
(R):5'- GCCTTGTGATTATCCAGGCAG -3'
Sequencing Primer
(F):5'- CAAGTTCTGTGGGTGACGTCAC -3'
(R):5'- TGATTATCCAGGCAGCGGTAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation