Incidental Mutation 'IGL01650:Fam227a'
| ID |
102811 |
| 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 # |
IGL01650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79493777-79543157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79518274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 339
(H339Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000109648
AA Change: H343Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: H343Q
| 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 |
possibly damaging
Transcript: ENSMUST00000187519
AA Change: H343Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: H343Q
| 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 |
possibly damaging
Transcript: ENSMUST00000229064
AA Change: H339Q
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,070,067 (GRCm39) |
D281G |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,180,127 (GRCm39) |
E236G |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,046,822 (GRCm39) |
|
probably benign |
Het |
| Btbd3 |
A |
T |
2: 138,126,025 (GRCm39) |
D334V |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,189,323 (GRCm39) |
E78G |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,287,280 (GRCm39) |
|
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,270,089 (GRCm39) |
Y600C |
unknown |
Het |
| Cpne4 |
A |
G |
9: 104,778,710 (GRCm39) |
D167G |
probably damaging |
Het |
| Eif3a |
T |
A |
19: 60,762,434 (GRCm39) |
I450F |
probably damaging |
Het |
| Enpp2 |
T |
A |
15: 54,783,329 (GRCm39) |
Y10F |
probably benign |
Het |
| Far2 |
C |
A |
6: 148,074,985 (GRCm39) |
T406K |
possibly damaging |
Het |
| Fmo1 |
A |
G |
1: 162,661,153 (GRCm39) |
S377P |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,821,430 (GRCm39) |
S5721N |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,520,791 (GRCm39) |
I300T |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,070,132 (GRCm39) |
N375D |
probably benign |
Het |
| Gsdma |
G |
T |
11: 98,564,513 (GRCm39) |
D331Y |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,002,594 (GRCm39) |
V1073A |
probably benign |
Het |
| Mfsd4b1 |
T |
A |
10: 39,879,115 (GRCm39) |
M261L |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,498 (GRCm39) |
D1321E |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,872,720 (GRCm39) |
I219T |
possibly damaging |
Het |
| Or52j3 |
A |
G |
7: 102,836,286 (GRCm39) |
I159M |
probably benign |
Het |
| Or6c69 |
A |
G |
10: 129,747,550 (GRCm39) |
V199A |
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,936 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g32 |
G |
T |
9: 39,305,252 (GRCm39) |
S55I |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,242,053 (GRCm39) |
R857L |
unknown |
Het |
| Prune2 |
T |
A |
19: 17,145,656 (GRCm39) |
I2752N |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,400 (GRCm39) |
I859T |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,031,075 (GRCm39) |
D510G |
probably damaging |
Het |
| Sema3g |
C |
A |
14: 30,943,744 (GRCm39) |
P208H |
probably benign |
Het |
| Smcr8 |
T |
C |
11: 60,669,010 (GRCm39) |
F53L |
probably damaging |
Het |
| Tnfsf13b |
A |
T |
8: 10,081,411 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,679,024 (GRCm39) |
V235A |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,383,103 (GRCm39) |
|
probably null |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
| Other mutations in Fam227a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation