Incidental Mutation 'IGL02569:Fam227a'
| ID |
298952 |
| 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 # |
IGL02569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79518323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 323
(C323Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155261
(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
AA Change: C327Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: C327Y
| 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
AA Change: C327Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: C327Y
| 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
AA Change: C323Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,034,061 (GRCm39) |
D2223G |
probably damaging |
Het |
| Brd1 |
A |
G |
15: 88,598,132 (GRCm39) |
L538P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,245 (GRCm39) |
V424A |
probably damaging |
Het |
| Capg |
A |
C |
6: 72,538,032 (GRCm39) |
E306A |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,373,428 (GRCm39) |
Y115C |
probably benign |
Het |
| Crat |
G |
A |
2: 30,294,542 (GRCm39) |
R509W |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,477,985 (GRCm39) |
N1594S |
possibly damaging |
Het |
| Fabp2 |
T |
C |
3: 122,689,113 (GRCm39) |
F18L |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,985 (GRCm39) |
K263R |
probably benign |
Het |
| Fas |
A |
G |
19: 34,297,962 (GRCm39) |
E210G |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,569 (GRCm39) |
F241S |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,932 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,573,244 (GRCm39) |
M2135K |
probably benign |
Het |
| Ikbkb |
G |
T |
8: 23,183,899 (GRCm39) |
Q84K |
probably damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,426 (GRCm39) |
T251A |
probably benign |
Het |
| Mphosph9 |
C |
A |
5: 124,435,634 (GRCm39) |
E600* |
probably null |
Het |
| Or2ag1 |
T |
A |
7: 106,313,793 (GRCm39) |
I32L |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,849 (GRCm39) |
T30S |
probably benign |
Het |
| Pde1a |
C |
A |
2: 79,698,602 (GRCm39) |
K341N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Scart2 |
A |
C |
7: 139,878,275 (GRCm39) |
I885L |
probably benign |
Het |
| Slc17a3 |
A |
G |
13: 24,030,285 (GRCm39) |
Y132C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St6galnac1 |
T |
C |
11: 116,658,528 (GRCm39) |
D312G |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,703,639 (GRCm39) |
|
probably null |
Het |
| Tex9 |
C |
T |
9: 72,385,645 (GRCm39) |
V8I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,301,382 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,818,129 (GRCm39) |
W182* |
probably null |
Het |
| Vmn2r61 |
G |
A |
7: 41,926,070 (GRCm39) |
G525E |
probably damaging |
Het |
| Zfp111 |
T |
C |
7: 23,906,494 (GRCm39) |
T2A |
possibly 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 |
|
|
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