Incidental Mutation 'R4192:Fam205c'
| ID |
318346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam205c
|
| Ensembl Gene |
ENSMUSG00000050141 |
| Gene Name |
family with sequence similarity 205, member C |
| Synonyms |
BC049635 |
| MMRRC Submission |
041023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
42868004-42874234 bp(-) (GRCm38) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to T
at 42874185 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055944]
[ENSMUST00000107978]
|
| AlphaFold |
Q80YD3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055944
|
| SMART Domains |
Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
51 |
139 |
2.7e-31 |
PFAM |
|
internal_repeat_1
|
147 |
168 |
5.83e-10 |
PROSPERO |
|
internal_repeat_1
|
180 |
201 |
5.83e-10 |
PROSPERO |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107978
|
| SMART Domains |
Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
52 |
138 |
3.4e-28 |
PFAM |
|
internal_repeat_1
|
147 |
168 |
5.79e-10 |
PROSPERO |
|
internal_repeat_1
|
180 |
201 |
5.79e-10 |
PROSPERO |
|
low complexity region
|
278 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144112
|
| 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: 36,096,579 (GRCm38) |
R178L |
possibly damaging |
Het |
| Acot4 |
T |
C |
12: 84,043,174 (GRCm38) |
|
probably benign |
Het |
| Add3 |
C |
A |
19: 53,242,524 (GRCm38) |
D543E |
probably benign |
Het |
| Angpt4 |
A |
C |
2: 151,943,318 (GRCm38) |
D418A |
probably benign |
Het |
| Ano8 |
A |
T |
8: 71,483,292 (GRCm38) |
V260D |
probably damaging |
Het |
| Cfh |
C |
T |
1: 140,102,716 (GRCm38) |
R860H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,847,271 (GRCm38) |
D1536G |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,207,077 (GRCm38) |
D182E |
probably benign |
Het |
| E330021D16Rik |
T |
C |
6: 136,401,437 (GRCm38) |
T132A |
probably benign |
Het |
| Epb42 |
G |
T |
2: 121,030,089 (GRCm38) |
|
probably null |
Het |
| Fam185a |
T |
A |
5: 21,425,124 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,647,149 (GRCm38) |
D1710G |
probably damaging |
Het |
| Gabra2 |
G |
A |
5: 71,007,998 (GRCm38) |
P210S |
probably benign |
Het |
| Gm8369 |
C |
T |
19: 11,502,232 (GRCm38) |
P9S |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,481,511 (GRCm38) |
D541G |
probably damaging |
Het |
| Ints4 |
T |
G |
7: 97,507,733 (GRCm38) |
H337Q |
probably damaging |
Het |
| Itgam |
A |
G |
7: 128,064,732 (GRCm38) |
T44A |
probably benign |
Het |
| Lyst |
C |
A |
13: 13,740,513 (GRCm38) |
T3264N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,473,042 (GRCm38) |
F1077S |
possibly damaging |
Het |
| Myo3a |
T |
A |
2: 22,407,377 (GRCm38) |
F728I |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,605,534 (GRCm38) |
E72G |
probably benign |
Het |
| Nkain3 |
G |
A |
4: 20,485,003 (GRCm38) |
Q25* |
probably null |
Het |
| Oca2 |
T |
C |
7: 56,297,249 (GRCm38) |
F342S |
probably damaging |
Het |
| Olfr934 |
T |
A |
9: 38,983,017 (GRCm38) |
Q9L |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,585,229 (GRCm38) |
L499Q |
probably damaging |
Het |
| Pcdhgb8 |
G |
C |
18: 37,763,541 (GRCm38) |
D555H |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,258,741 (GRCm38) |
N634K |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 72,051,959 (GRCm38) |
K818R |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,925,470 (GRCm38) |
|
probably benign |
Het |
| Rcc1l |
T |
C |
5: 134,155,809 (GRCm38) |
T385A |
probably benign |
Het |
| Rrm2 |
T |
C |
12: 24,708,378 (GRCm38) |
I11T |
probably benign |
Het |
| Scnn1b |
A |
G |
7: 121,902,739 (GRCm38) |
T207A |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,447,681 (GRCm38) |
|
probably benign |
Het |
| Tmprss6 |
A |
T |
15: 78,446,657 (GRCm38) |
|
probably null |
Het |
| Ttbk1 |
A |
T |
17: 46,479,247 (GRCm38) |
C91S |
probably damaging |
Het |
| Vit |
A |
G |
17: 78,586,826 (GRCm38) |
H219R |
probably benign |
Het |
| Vmn1r27 |
A |
C |
6: 58,215,827 (GRCm38) |
I14R |
probably damaging |
Het |
|
| Other mutations in Fam205c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Fam205c
|
APN |
4 |
42,868,564 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL01697:Fam205c
|
APN |
4 |
42,874,163 (GRCm38) |
missense |
probably benign |
|
|
IGL02413:Fam205c
|
APN |
4 |
42,868,549 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02450:Fam205c
|
APN |
4 |
42,874,127 (GRCm38) |
missense |
probably benign |
|
|
R0433:Fam205c
|
UTSW |
4 |
42,874,013 (GRCm38) |
splice site |
probably benign |
|
|
R1580:Fam205c
|
UTSW |
4 |
42,874,020 (GRCm38) |
splice site |
probably null |
|
|
R2042:Fam205c
|
UTSW |
4 |
42,874,030 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2102:Fam205c
|
UTSW |
4 |
42,868,558 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3824:Fam205c
|
UTSW |
4 |
42,873,492 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4668:Fam205c
|
UTSW |
4 |
42,871,608 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4690:Fam205c
|
UTSW |
4 |
42,873,032 (GRCm38) |
splice site |
probably null |
|
|
R5743:Fam205c
|
UTSW |
4 |
42,873,087 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5868:Fam205c
|
UTSW |
4 |
42,871,711 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6186:Fam205c
|
UTSW |
4 |
42,872,000 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6778:Fam205c
|
UTSW |
4 |
42,868,522 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6986:Fam205c
|
UTSW |
4 |
42,868,696 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7318:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R7413:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R7675:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R7785:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R7842:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R8125:Fam205c
|
UTSW |
4 |
42,873,051 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8808:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R8954:Fam205c
|
UTSW |
4 |
42,871,753 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9343:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
R9620:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
RF040:Fam205c
|
UTSW |
4 |
42,871,823 (GRCm38) |
small deletion |
probably benign |
|
|
X0052:Fam205c
|
UTSW |
4 |
42,874,047 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTAAACGACATGCTTAGGCC -3'
(R):5'- CCTCATCTGGACACCGAATC -3'
Sequencing Primer
(F):5'- TAAACGACATGCTTAGGCCTGGTC -3'
(R):5'- CGAATCACCACTTGAGTTTATCCAAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation