Incidental Mutation 'R4192:Fam185a'
| ID |
318348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam185a
|
| Ensembl Gene |
ENSMUSG00000047221 |
| Gene Name |
family with sequence similarity 185, member A |
| Synonyms |
|
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
134 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
21629956-21687122 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 21630122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030552]
[ENSMUST00000056045]
[ENSMUST00000115245]
|
| AlphaFold |
Q7TPD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030552
|
| SMART Domains |
Protein: ENSMUSP00000030552
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056045
|
| SMART Domains |
Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115245
|
| SMART Domains |
Protein: ENSMUSP00000110900
Gene: ENSMUSG00000064280
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
130 |
N/A |
INTRINSIC |
|
coiled coil region
|
194 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
342 |
N/A |
INTRINSIC |
|
coiled coil region
|
438 |
477 |
N/A |
INTRINSIC |
|
coiled coil region
|
549 |
595 |
N/A |
INTRINSIC |
|
coiled coil region
|
617 |
663 |
N/A |
INTRINSIC |
|
coiled coil region
|
690 |
720 |
N/A |
INTRINSIC |
|
coiled coil region
|
770 |
793 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153301
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
G |
T |
14: 35,818,536 (GRCm39) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,089,948 (GRCm39) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,230,955 (GRCm39) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,785,238 (GRCm39) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,935,936 (GRCm39) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,030,454 (GRCm39) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,860 (GRCm39) |
D182E |
probably benign |
Het |
| Epb42 |
G |
T |
2: 120,860,570 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,518,998 (GRCm39) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,165,341 (GRCm39) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,479,596 (GRCm39) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,472 (GRCm39) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,156,940 (GRCm39) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,663,904 (GRCm39) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,915,098 (GRCm39) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,188 (GRCm39) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,555,534 (GRCm39) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm39) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 55,946,997 (GRCm39) |
F342S |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,415,573 (GRCm39) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,166,025 (GRCm39) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,785 (GRCm39) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,853,207 (GRCm39) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,184,648 (GRCm39) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,758,377 (GRCm39) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,501,962 (GRCm39) |
T207A |
possibly damaging |
Het |
| Spata31f3 |
A |
T |
4: 42,874,185 (GRCm39) |
|
probably benign |
Het |
| Syt12 |
T |
A |
19: 4,497,709 (GRCm39) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,330,857 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,790,173 (GRCm39) |
C91S |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,435 (GRCm39) |
T132A |
probably benign |
Het |
| Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,192,812 (GRCm39) |
I14R |
probably damaging |
Het |
|
| Other mutations in Fam185a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Fam185a
|
APN |
5 |
21,685,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01980:Fam185a
|
APN |
5 |
21,664,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Fam185a
|
APN |
5 |
21,630,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Fam185a
|
APN |
5 |
21,685,392 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02553:Fam185a
|
APN |
5 |
21,634,839 (GRCm39) |
splice site |
probably benign |
|
|
IGL02553:Fam185a
|
APN |
5 |
21,660,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Fam185a
|
APN |
5 |
21,660,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
famine
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Fam185a
|
UTSW |
5 |
21,664,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Fam185a
|
UTSW |
5 |
21,685,328 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1883:Fam185a
|
UTSW |
5 |
21,630,242 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3775:Fam185a
|
UTSW |
5 |
21,660,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Fam185a
|
UTSW |
5 |
21,630,122 (GRCm39) |
unclassified |
probably benign |
|
|
R4194:Fam185a
|
UTSW |
5 |
21,630,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4704:Fam185a
|
UTSW |
5 |
21,685,471 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4724:Fam185a
|
UTSW |
5 |
21,660,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Fam185a
|
UTSW |
5 |
21,685,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6225:Fam185a
|
UTSW |
5 |
21,630,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6438:Fam185a
|
UTSW |
5 |
21,663,970 (GRCm39) |
splice site |
probably null |
|
|
R6475:Fam185a
|
UTSW |
5 |
21,630,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7512:Fam185a
|
UTSW |
5 |
21,652,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8400:Fam185a
|
UTSW |
5 |
21,643,814 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8690:Fam185a
|
UTSW |
5 |
21,638,766 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9157:Fam185a
|
UTSW |
5 |
21,660,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTGACTTGTCCAGGTCAG -3'
(R):5'- ATACTTGACCTGCAGGCTG -3'
Sequencing Primer
(F):5'- CCAGGTCAGGGTTTCAACTAG -3'
(R):5'- TTGACCTGCAGGCTGTCCAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation