Incidental Mutation 'R3753:Fam187a'
| ID |
271326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam187a
|
| Ensembl Gene |
ENSMUSG00000075510 |
| Gene Name |
family with sequence similarity 187, member A |
| Synonyms |
4933439F11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R3753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
102775995-102777557 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102776675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 160
(P160S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021306]
[ENSMUST00000021307]
[ENSMUST00000067444]
[ENSMUST00000077902]
[ENSMUST00000100369]
[ENSMUST00000107060]
[ENSMUST00000159834]
|
| AlphaFold |
Q9D3R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021306
|
| SMART Domains |
Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EFTUD2
|
3 |
110 |
1.1e-42 |
PFAM |
|
Pfam:GTP_EFTU
|
127 |
440 |
9.6e-47 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
489 |
566 |
3.8e-15 |
PFAM |
|
Pfam:EFG_II
|
584 |
656 |
9.9e-11 |
PFAM |
|
EFG_IV
|
703 |
824 |
1.1e-16 |
SMART |
|
EFG_C
|
826 |
915 |
1.14e-14 |
SMART |
|
| 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 benign
Transcript: ENSMUST00000100369
AA Change: P160S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510
AA Change: P160S
| 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: ENSMUST00000107060
|
| SMART Domains |
Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
50 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
126 |
439 |
9.6e-44 |
PFAM |
|
Pfam:Miro
|
130 |
260 |
2.5e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
488 |
565 |
7.9e-13 |
PFAM |
|
Pfam:EFG_II
|
583 |
655 |
8.2e-10 |
PFAM |
|
EFG_IV
|
702 |
823 |
1.1e-16 |
SMART |
|
EFG_C
|
825 |
914 |
1.14e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181125
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably damaging |
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 |
|
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 |
|
R6683:Fam187a
|
UTSW |
11 |
102,777,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCAGCATCCGCATGTTCAG -3'
(R):5'- AGCTCTGAAACTGCAGCTC -3'
Sequencing Primer
(F):5'- CCGCATGTTCAGCCTGTTGG -3'
(R):5'- CTGGAGATGCAGTTTCCACG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation