Incidental Mutation 'R4845:Fam227a'
ID |
372129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam227a
|
Ensembl Gene |
ENSMUSG00000042564 |
Gene Name |
family with sequence similarity 227, member A |
Synonyms |
4933432B09Rik |
MMRRC Submission |
042458-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4845 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79533912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 17
(R17H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109646]
[ENSMUST00000109648]
[ENSMUST00000187519]
[ENSMUST00000191401]
[ENSMUST00000229064]
[ENSMUST00000230366]
|
AlphaFold |
Q9D3V8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046816
|
SMART Domains |
Protein: ENSMUSP00000048277 Gene: ENSMUSG00000042564
Domain | Start | End | E-Value | Type |
Pfam:FWWh
|
128 |
242 |
6.3e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109646
|
SMART Domains |
Protein: ENSMUSP00000105273 Gene: ENSMUSG00000042564
Domain | Start | End | E-Value | Type |
low complexity region
|
156 |
175 |
N/A |
INTRINSIC |
low complexity region
|
204 |
211 |
N/A |
INTRINSIC |
low complexity region
|
243 |
253 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109648
AA Change: R17H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105275 Gene: ENSMUSG00000042564 AA Change: R17H
Domain | Start | End | E-Value | Type |
Pfam:FWWh
|
134 |
295 |
1.4e-51 |
PFAM |
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
low complexity region
|
560 |
567 |
N/A |
INTRINSIC |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187519
AA Change: R17H
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139524 Gene: ENSMUSG00000042564 AA Change: R17H
Domain | Start | End | E-Value | Type |
Pfam:FWWh
|
132 |
295 |
1e-47 |
PFAM |
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
low complexity region
|
560 |
567 |
N/A |
INTRINSIC |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191401
AA Change: R17H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229064
AA Change: R17H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230366
AA Change: R17H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231126
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
C |
T |
17: 31,333,057 (GRCm39) |
S600F |
possibly damaging |
Het |
Arhgap21 |
T |
A |
2: 20,885,998 (GRCm39) |
N393I |
probably damaging |
Het |
Atp5pf |
T |
A |
16: 84,628,365 (GRCm39) |
I6F |
possibly damaging |
Het |
B4galt6 |
A |
G |
18: 20,821,517 (GRCm39) |
L337S |
probably benign |
Het |
C8b |
G |
T |
4: 104,649,009 (GRCm39) |
V308F |
possibly damaging |
Het |
Cables1 |
A |
G |
18: 12,077,545 (GRCm39) |
R558G |
probably damaging |
Het |
Chmp2b |
T |
A |
16: 65,347,862 (GRCm39) |
Q38L |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,531,031 (GRCm39) |
I773K |
probably benign |
Het |
Cnmd |
T |
C |
14: 79,899,448 (GRCm39) |
T2A |
probably benign |
Het |
Crb1 |
C |
T |
1: 139,170,772 (GRCm39) |
D812N |
probably benign |
Het |
Dnah7c |
T |
A |
1: 46,832,692 (GRCm39) |
D3901E |
probably damaging |
Het |
Dst |
T |
C |
1: 34,232,208 (GRCm39) |
V3445A |
probably benign |
Het |
Epn1 |
T |
A |
7: 5,096,908 (GRCm39) |
I230N |
possibly damaging |
Het |
Exoc6b |
G |
T |
6: 84,812,119 (GRCm39) |
D627E |
probably benign |
Het |
Exosc1 |
T |
C |
19: 41,919,797 (GRCm39) |
K74E |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,315,024 (GRCm39) |
T53A |
probably benign |
Het |
Faxc |
G |
T |
4: 21,993,358 (GRCm39) |
W334L |
probably damaging |
Het |
Gabrr3 |
T |
C |
16: 59,246,833 (GRCm39) |
I94T |
probably damaging |
Het |
Ifi203 |
A |
T |
1: 173,754,595 (GRCm39) |
M298K |
probably benign |
Het |
Igkv4-78 |
A |
T |
6: 69,037,207 (GRCm39) |
M1K |
probably null |
Het |
Iqcm |
G |
T |
8: 76,472,980 (GRCm39) |
R273I |
probably damaging |
Het |
Itga1 |
G |
T |
13: 115,110,708 (GRCm39) |
S961* |
probably null |
Het |
Jmy |
T |
A |
13: 93,576,246 (GRCm39) |
M886L |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,339,585 (GRCm39) |
T1109A |
possibly damaging |
Het |
Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
Mettl14 |
T |
A |
3: 123,165,004 (GRCm39) |
E112V |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Musk |
A |
G |
4: 58,296,679 (GRCm39) |
D93G |
probably damaging |
Het |
Myoc |
C |
T |
1: 162,475,034 (GRCm39) |
T195M |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,404,208 (GRCm39) |
D893G |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,339,902 (GRCm39) |
V908M |
probably benign |
Het |
Or4a79 |
T |
C |
2: 89,552,120 (GRCm39) |
I112V |
probably benign |
Het |
Or52n5 |
T |
C |
7: 104,588,570 (GRCm39) |
V279A |
possibly damaging |
Het |
Or5g9 |
T |
A |
2: 85,551,836 (GRCm39) |
L29* |
probably null |
Het |
Orc4 |
T |
C |
2: 48,799,478 (GRCm39) |
N333S |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhb8 |
G |
A |
18: 37,489,771 (GRCm39) |
G483D |
probably benign |
Het |
Pclo |
A |
T |
5: 14,729,132 (GRCm39) |
|
probably benign |
Het |
Ppm1k |
A |
T |
6: 57,499,753 (GRCm39) |
Y174* |
probably null |
Het |
Ptprq |
A |
T |
10: 107,489,393 (GRCm39) |
S911T |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,419,451 (GRCm39) |
A554S |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,562,700 (GRCm39) |
Y427C |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,030,146 (GRCm39) |
I573F |
probably damaging |
Het |
Slc17a1 |
A |
T |
13: 24,060,601 (GRCm39) |
Y201F |
probably damaging |
Het |
Slc4a7 |
A |
T |
14: 14,733,803 (GRCm38) |
H71L |
probably damaging |
Het |
Spata6l |
G |
T |
19: 28,905,148 (GRCm39) |
D305E |
probably benign |
Het |
St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
Tab1 |
C |
T |
15: 80,036,964 (GRCm39) |
R217W |
probably damaging |
Het |
Taf6 |
T |
A |
5: 138,180,909 (GRCm39) |
Y224F |
possibly damaging |
Het |
Tmc5 |
C |
G |
7: 118,241,604 (GRCm39) |
F432L |
probably damaging |
Het |
Trbc1 |
A |
T |
6: 41,516,169 (GRCm39) |
|
probably benign |
Het |
Trbv21 |
A |
G |
6: 41,179,879 (GRCm39) |
N65S |
probably benign |
Het |
Trim15 |
G |
A |
17: 37,177,875 (GRCm39) |
P40L |
probably benign |
Het |
Txnip |
T |
C |
3: 96,466,916 (GRCm39) |
S197P |
probably benign |
Het |
Vmn1r167 |
T |
A |
7: 23,204,158 (GRCm39) |
Q286L |
probably benign |
Het |
Wnt9a |
A |
G |
11: 59,222,067 (GRCm39) |
I322V |
probably benign |
Het |
Zfp879 |
T |
C |
11: 50,724,672 (GRCm39) |
E128G |
probably damaging |
Het |
|
Other mutations in Fam227a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01650:Fam227a
|
APN |
15 |
79,518,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01807:Fam227a
|
APN |
15 |
79,533,856 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01936:Fam227a
|
APN |
15 |
79,496,747 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02355:Fam227a
|
APN |
15 |
79,528,139 (GRCm39) |
intron |
probably benign |
|
IGL02362:Fam227a
|
APN |
15 |
79,528,139 (GRCm39) |
intron |
probably benign |
|
IGL02569:Fam227a
|
APN |
15 |
79,518,323 (GRCm39) |
missense |
probably benign |
|
IGL02713:Fam227a
|
APN |
15 |
79,520,997 (GRCm39) |
splice site |
probably benign |
|
IGL02734:Fam227a
|
APN |
15 |
79,502,042 (GRCm39) |
splice site |
probably benign |
|
IGL02816:Fam227a
|
APN |
15 |
79,510,497 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03354:Fam227a
|
APN |
15 |
79,520,951 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0105:Fam227a
|
UTSW |
15 |
79,505,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0194:Fam227a
|
UTSW |
15 |
79,524,870 (GRCm39) |
nonsense |
probably null |
|
R0437:Fam227a
|
UTSW |
15 |
79,528,189 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0786:Fam227a
|
UTSW |
15 |
79,510,469 (GRCm39) |
missense |
probably benign |
0.01 |
R0925:Fam227a
|
UTSW |
15 |
79,505,006 (GRCm39) |
missense |
probably benign |
0.04 |
R1200:Fam227a
|
UTSW |
15 |
79,496,738 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1424:Fam227a
|
UTSW |
15 |
79,518,309 (GRCm39) |
missense |
probably benign |
0.34 |
R1474:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
probably damaging |
0.97 |
R1495:Fam227a
|
UTSW |
15 |
79,510,446 (GRCm39) |
missense |
probably benign |
0.00 |
R1561:Fam227a
|
UTSW |
15 |
79,520,963 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1661:Fam227a
|
UTSW |
15 |
79,504,878 (GRCm39) |
splice site |
probably null |
|
R1669:Fam227a
|
UTSW |
15 |
79,504,878 (GRCm39) |
splice site |
probably null |
|
R1967:Fam227a
|
UTSW |
15 |
79,521,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1976:Fam227a
|
UTSW |
15 |
79,510,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2197:Fam227a
|
UTSW |
15 |
79,507,668 (GRCm39) |
missense |
probably damaging |
0.97 |
R2230:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2231:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2232:Fam227a
|
UTSW |
15 |
79,499,582 (GRCm39) |
missense |
possibly damaging |
0.66 |
R2910:Fam227a
|
UTSW |
15 |
79,520,935 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3027:Fam227a
|
UTSW |
15 |
79,532,934 (GRCm39) |
splice site |
probably null |
|
R3943:Fam227a
|
UTSW |
15 |
79,505,060 (GRCm39) |
splice site |
probably benign |
|
R4811:Fam227a
|
UTSW |
15 |
79,499,628 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4896:Fam227a
|
UTSW |
15 |
79,521,255 (GRCm39) |
missense |
probably benign |
0.32 |
R4934:Fam227a
|
UTSW |
15 |
79,521,262 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4941:Fam227a
|
UTSW |
15 |
79,524,204 (GRCm39) |
critical splice donor site |
probably null |
|
R5225:Fam227a
|
UTSW |
15 |
79,520,936 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5369:Fam227a
|
UTSW |
15 |
79,499,637 (GRCm39) |
missense |
probably benign |
0.27 |
R5593:Fam227a
|
UTSW |
15 |
79,524,259 (GRCm39) |
utr 3 prime |
probably benign |
|
R6311:Fam227a
|
UTSW |
15 |
79,524,895 (GRCm39) |
missense |
probably benign |
0.23 |
R6362:Fam227a
|
UTSW |
15 |
79,527,551 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6532:Fam227a
|
UTSW |
15 |
79,520,921 (GRCm39) |
missense |
probably benign |
0.00 |
R7239:Fam227a
|
UTSW |
15 |
79,518,263 (GRCm39) |
critical splice donor site |
probably null |
|
R7619:Fam227a
|
UTSW |
15 |
79,501,967 (GRCm39) |
missense |
probably benign |
|
R7719:Fam227a
|
UTSW |
15 |
79,504,913 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8006:Fam227a
|
UTSW |
15 |
79,518,299 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8048:Fam227a
|
UTSW |
15 |
79,533,959 (GRCm39) |
start codon destroyed |
probably null |
|
R8175:Fam227a
|
UTSW |
15 |
79,524,861 (GRCm39) |
missense |
probably damaging |
0.97 |
R8439:Fam227a
|
UTSW |
15 |
79,514,271 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9014:Fam227a
|
UTSW |
15 |
79,504,958 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9034:Fam227a
|
UTSW |
15 |
79,532,952 (GRCm39) |
missense |
probably benign |
0.00 |
R9582:Fam227a
|
UTSW |
15 |
79,501,978 (GRCm39) |
missense |
probably benign |
0.33 |
R9613:Fam227a
|
UTSW |
15 |
79,518,284 (GRCm39) |
missense |
probably benign |
0.09 |
R9668:Fam227a
|
UTSW |
15 |
79,526,444 (GRCm39) |
missense |
probably benign |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAGAGTGGGCTCACAGATG -3'
(R):5'- CCTTAGAGTCCAGATCAGCAGG -3'
Sequencing Primer
(F):5'- AGTGGGCTCACAGATGACTTATATG -3'
(R):5'- AGTCCAGATCAGCAGGCTGTTG -3'
|
Posted On |
2016-03-01 |