Incidental Mutation 'R6683:Fam187a'
| ID |
527587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam187a
|
| Ensembl Gene |
ENSMUSG00000075510 |
| Gene Name |
family with sequence similarity 187, member A |
| Synonyms |
4933439F11Rik |
| MMRRC Submission |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
102775995-102777557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102777015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021307]
[ENSMUST00000067444]
[ENSMUST00000077902]
[ENSMUST00000100369]
[ENSMUST00000159834]
|
| AlphaFold |
Q9D3R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021307
|
| SMART Domains |
Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynein_attach_N
|
7 |
74 |
3.3e-32 |
PFAM |
|
Pfam:RPAP3_C
|
98 |
188 |
1.2e-19 |
PFAM |
|
low complexity region
|
219 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067444
|
| SMART Domains |
Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
2 |
64 |
1.7e-8 |
PFAM |
|
Filament
|
65 |
373 |
2.34e-136 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077902
|
| SMART Domains |
Protein: ENSMUSP00000077061
Gene: ENSMUSG00000020932
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
1 |
64 |
1.6e-7 |
PFAM |
|
Pfam:Filament
|
65 |
373 |
1e-112 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100369
AA Change: V273A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: V273A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
39 |
142 |
3.73e0 |
SMART |
|
IG_like
|
275 |
361 |
1.61e1 |
SMART |
|
transmembrane domain
|
377 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159834
|
| SMART Domains |
Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,321,604 (GRCm39) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
| Creb3l4 |
T |
A |
3: 90,145,112 (GRCm39) |
T347S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
| Lkaaear1 |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG |
2: 181,339,354 (GRCm39) |
|
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,274,156 (GRCm39) |
S546P |
probably damaging |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,896 (GRCm39) |
M117T |
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
Het |
|
| Other mutations in Fam187a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02569:Fam187a
|
APN |
11 |
102,776,985 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02886:Fam187a
|
APN |
11 |
102,777,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1735:Fam187a
|
UTSW |
11 |
102,776,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Fam187a
|
UTSW |
11 |
102,776,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Fam187a
|
UTSW |
11 |
102,776,124 (GRCm39) |
unclassified |
probably benign |
|
|
R2259:Fam187a
|
UTSW |
11 |
102,776,124 (GRCm39) |
unclassified |
probably benign |
|
|
R2424:Fam187a
|
UTSW |
11 |
102,776,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Fam187a
|
UTSW |
11 |
102,776,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4206:Fam187a
|
UTSW |
11 |
102,777,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5176:Fam187a
|
UTSW |
11 |
102,777,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6011:Fam187a
|
UTSW |
11 |
102,776,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Fam187a
|
UTSW |
11 |
102,776,701 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7309:Fam187a
|
UTSW |
11 |
102,776,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Fam187a
|
UTSW |
11 |
102,776,874 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8352:Fam187a
|
UTSW |
11 |
102,777,400 (GRCm39) |
nonsense |
probably null |
|
|
R8452:Fam187a
|
UTSW |
11 |
102,777,400 (GRCm39) |
nonsense |
probably null |
|
|
R9043:Fam187a
|
UTSW |
11 |
102,776,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACTTGCAGTACCCTGACC -3'
(R):5'- TTGCCGTGGTCGATGAAAAC -3'
Sequencing Primer
(F):5'- GCTACATTAAGACTCGGTCCG -3'
(R):5'- CCGTGGTCGATGAAAACTCTCATG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation