Incidental Mutation 'IGL02362:Fam227a'
| ID |
290558 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam227a
|
| Ensembl Gene |
ENSMUSG00000042564 |
| Gene Name |
family with sequence similarity 227, member A |
| Synonyms |
4933432B09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL02362
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 79528139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000109648
|
| SMART Domains |
Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
| 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 benign
Transcript: ENSMUST00000187519
|
| SMART Domains |
Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
| 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 benign
Transcript: ENSMUST00000191401
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230475
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
C |
A |
8: 25,187,207 (GRCm39) |
C428F |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,113,838 (GRCm39) |
Y469C |
probably damaging |
Het |
| Asxl1 |
C |
T |
2: 153,243,706 (GRCm39) |
L1419F |
probably benign |
Het |
| Bcan |
C |
T |
3: 87,901,449 (GRCm39) |
D418N |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,839 (GRCm39) |
D199G |
possibly damaging |
Het |
| Chst15 |
T |
C |
7: 131,868,401 (GRCm39) |
N340D |
probably benign |
Het |
| Col12a1 |
T |
G |
9: 79,537,993 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,849 (GRCm39) |
H116L |
probably benign |
Het |
| Cyp2c67 |
G |
A |
19: 39,605,826 (GRCm39) |
R357* |
probably null |
Het |
| Ears2 |
T |
C |
7: 121,643,773 (GRCm39) |
D395G |
probably benign |
Het |
| Fap |
A |
G |
2: 62,403,842 (GRCm39) |
V11A |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,264,238 (GRCm39) |
D397G |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,752 (GRCm39) |
G170C |
possibly damaging |
Het |
| Gria2 |
A |
T |
3: 80,614,244 (GRCm39) |
W599R |
probably damaging |
Het |
| Gvin-ps5 |
T |
C |
7: 105,929,480 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,236 (GRCm39) |
S94P |
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,836,507 (GRCm39) |
A85T |
probably damaging |
Het |
| Lifr |
G |
A |
15: 7,194,174 (GRCm39) |
|
probably null |
Het |
| Lonp2 |
T |
G |
8: 87,350,874 (GRCm39) |
S21R |
probably benign |
Het |
| Nxpe3 |
A |
G |
16: 55,710,949 (GRCm39) |
V30A |
probably benign |
Het |
| Olfml1 |
T |
C |
7: 107,167,010 (GRCm39) |
V13A |
probably benign |
Het |
| Or10w1 |
T |
C |
19: 13,632,597 (GRCm39) |
V268A |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,109,681 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,210,996 (GRCm39) |
Q2376* |
probably null |
Het |
| Pglyrp2 |
A |
G |
17: 32,635,996 (GRCm39) |
L380P |
probably damaging |
Het |
| Plin3 |
A |
G |
17: 56,593,636 (GRCm39) |
V26A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,041,996 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
A |
G |
4: 143,519,580 (GRCm39) |
S114G |
probably damaging |
Het |
| Rims1 |
A |
G |
1: 22,522,288 (GRCm39) |
I470T |
probably damaging |
Het |
| Rora |
T |
C |
9: 69,281,374 (GRCm39) |
Y329H |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,770 (GRCm39) |
R503H |
probably damaging |
Het |
| Sec14l1 |
A |
G |
11: 117,035,675 (GRCm39) |
D237G |
possibly damaging |
Het |
| Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,140 (GRCm39) |
L164P |
probably benign |
Het |
| Sik2 |
C |
T |
9: 50,828,903 (GRCm39) |
W176* |
probably null |
Het |
| Slc2a1 |
T |
C |
4: 118,993,612 (GRCm39) |
F483S |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,400,559 (GRCm39) |
D2573G |
possibly damaging |
Het |
| Stil |
C |
T |
4: 114,867,308 (GRCm39) |
S239L |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,685,571 (GRCm39) |
S941R |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,115,778 (GRCm39) |
D273V |
probably damaging |
Het |
| Tns2 |
A |
G |
15: 102,020,725 (GRCm39) |
T864A |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,962,890 (GRCm39) |
H184R |
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 |
|
|
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 |
|
R4845:Fam227a
|
UTSW |
15 |
79,533,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation